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Treatments for Functional Neurological Disorder | Neurology

What is a functional neurological disorder?

Functional neurological disorder (FND) is a medicinal condition in which there is a problem with the operative of the nervous system and how the brain and body send and/or receive signals, rather than a structural disease process such as multiple sclerosis or a stroke. The functional neurological disorder can encompass a wide variety of neurological symptoms, such as limb weakness or seizures.

A functional neurological disorder is a condition at the interface between the specialties of neurology and psychiatry. Conventional tests, such as brain MRIs and EEGs, are usually normal in patients with functional neurological disorders. This has historically led to both doctors and researchers neglecting the disease.

However, it has now been established that functional neurological disorder is a common cause of disability and distress, which can overlap with other problems such as chronic pain and fatigue. Encouraging studies support the possible reversibility of functional neurological disorder with specifically designed treatments. New scientific findings are influencing the way patients are diagnosed and treated, which is creating a general shift in attitudes towards people with functional neurological disorders.

Older ideas that functional neurological disorder is “totally psychological” and that diagnosis is made only when someone has normal tests have changed since the mid-2000s. New understanding, including modern neuroscientific studies, has shown that FND it is not a diagnosis of exclusion. It has specific clinical features of its own and is a disorder of nervous system functioning in which many perspectives are needed. These vary greatly from person to person. In some people, psychological factors are important, in others they are not.

Signs and symptoms of functional neurological disorder

Patients with a functional neurological disorder can experience a wide range and combination of physical, sensory, and/or cognitive symptoms. The most common include:

Motor dysfunction

  • Functional weakness/paralysis of the limbs
  • Functional movement disorders; including tremors, spasms (dystonia), jerky movements (myoclonus), and trouble walking (gait disorder)
  • Functional speech symptoms; including whispering (dysphonia), slurred speech, or stuttering

Sensory dysfunction

  • Functional sensory disturbance includes altered sensation; eg numbness, tingling, or pain in the face, torso, or extremities. This often occurs on one side of the body
  • functional visual symptoms; including vision loss or double vision

Episodes of altered consciousness

  • Dissociative (non-epileptic) seizures, fainting spells, and fainting spells: These symptoms may overlap and may look like epileptic seizures or blackouts (syncope)

Symptoms often fluctuate and can vary from day to day or be present all the time. Some patients with a functional neurological disorder may experience a substantial or even complete remission followed by sudden relapses of symptoms.

Patients with the functional neurological disorder often experience other physical and psychological symptoms, but they may not be present. These include chronic pain, fatigue, trouble sleeping, memory symptoms, bowel and bladder symptoms, anxiety, and depression.

Causes functional neurological disorder

The exact cause of the functional neurological disorder is unknown, although ongoing research is beginning to provide suggestions on how and why it develops. Many different predisposing factors can make patients more susceptible to FND, such as having another neurological condition, experiencing chronic pain, fatigue, or stress. However, some people with functional neurological disorders do not have any of these risk factors.

By the time FND begins, studies have shown that there can be triggers such as a physical injury, infectious disease, panic attack, or migraine that can give someone the first experience of symptoms. These symptoms usually go away on their own.

However, in FND the symptoms “get stuck” in a “pattern” in the nervous system. This “pattern” is reflected in altered brain function. The result is a genuine and disabling problem, which the patient cannot control. The goal of treatment is to “retrain the brain,” for example, by unlearning abnormal and dysfunctional movement patterns that have developed and re-learning normal movement.

One way to think about FND is to think of it as a “software” problem on a computer. The “hardware” is not damaged, but there is a problem with the “software”, so the computer does not work, it does not work properly. Conventional structural magnetic resonance imaging of the brain is usually normal in FND unless the person has another neurological condition.

Functional brain scans (fMRI) are beginning to provide early evidence of how the brain fails in FND. Functional magnetic resonance imaging shows changes in FND patients who look different from healthy patients without these symptoms, as well as from healthy people who “pretend” to have these symptoms.

Functional imaging is still a research tool and is not sufficiently developed to be used in the diagnosis of FND. The scans support what patients and researchers already know: These are genuine disorders in which there is a change in how the brain works, which is beyond the control of the person with FND.

Diagnosis of functional neurological disorder

The diagnosis of a functional neurologic disorder depends on the positive features of the history and examination.

Positive features of functional softness on examination include the Hoover sign, when there is the weakness of hip extension that regularizes with contralateral hip flexion, and the abductor thigh sign, thigh abduction weakness which is normalized with the abduction of the contralateral thigh. Signs of functional tremors include entrainment and distraction.

The trembling patient should be asked to copy the rhythmic movements with one hand or one foot. If the tremor on the other hand follows the same rhythm, stops, or if the patient has trouble copying a simple movement, this may indicate a functional tremor.

Functional dystonia usually presents with an inverted ankle stance or with a clenched fist. Positive features of dissociative or nonepileptic seizures include prolonged immobile unresponsiveness, long-lasting episodes (> 2 minutes), and dissociative symptoms before the seizure. These signs can be usefully discussed with patients when making the diagnosis.

Patients with functional movement disorders and limb faintness may experience the onset of symptoms triggered by an episode of acute pain, bodily injury, or physical trauma. They may also experience symptoms when faced with a psychological stressor, but this is not the case for most patients. Patients with functional neurological disorders are more likely to have a history of another disease, such as irritable bowel syndrome, chronic pelvic pain, or fibromyalgia, but this cannot be used to make a diagnosis.

FND does not show up on blood tests or structural brain images, such as MRI or CT. However, this is also the case for many other neurological conditions, so negative investigations should not be used alone to make the diagnosis. However, FND can occur along with other neurological diseases, and tests can show nonspecific abnormalities that confuse clinicians and patients.

Treatment for a functional neurological disorder

There is no best treatment for a conversion disorder. A physician is likely to provide support and reassurance and tailor treatment goals to the specific situation.

Most doctors will explain the limits of what the physical exam and tests could show about symptoms. They try to avoid confronting the individual with the idea that the symptoms are “false”, because the symptoms are often distressing and are not under the control of the person. It is helpful to avoid overly intrusive and uncomfortable medical tests, while still monitoring symptoms.

Symptoms occasionally go away on their own after the stress has been reduced, the conflict has been resolved, or the family or public has responded with concern and support.

If symptoms do not recover relatively quickly, more vigorous rehabilitation may be required. Physical or occupational therapy can be helpful.

Psychotherapy can deliver relief, although there is no evidence that one type of therapy is more effective than another. Many therapists will focus on encouragement and motivational interviewing, with the goal of improving functioning.

If the source of the conflict or stress can be determined, it can be helpful to know what triggered the symptoms. For instance, the person may be in conflict about leaving home, starting a new job, or having a first child.

In psychotherapy, the person can learn to cope with conflict or withdraw from the source of distress. In either case, the physical symptoms can go away. Performance remains a higher priority than knowledge.

As with psychotherapy, there is no single drug that is best for this disorder. Medication can be helpful in treating an underlying problem with anxiety or depression.

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Overview of Heart Failure in Children | Cardiology

What is heart failure in children?

The most common cause of heart failure in children is congestive heart failure, in which the heart cannot pump enough blood to meet the needs of the body’s organs. The heart continues to pump, but not as efficiently as a healthy heart. In general, heart failure reflects a progressive underlying heart condition.

For a child to grow and develop, the heart needs to maintain a normal pumping function, providing adequate blood flow throughout the body. However, sometimes a child’s heart may not function normally. The term “cardiac arrest” describes a dysfunctional heart. This does not mean that the heart has stopped working, but that it is not working.

Heart failure in children is caused by smoking, high blood pressure, diabetes, coronary artery disease, and faulty heart valves. It can occur in newborns, young children, young children, and adolescents for other reasons. Because heart failure has different causes and outcomes, it is important to identify how it is diagnosed, treated, and cured in young children.

How is heart failure in children identified?

Heart failure in children is often accompanied by shortness of breath, poor diet, poor growth, excessive sweating, or low blood pressure. Sometimes heart failure can be similar to other problems, such as colic, pneumonia, or other respiratory infections.

Parents often notice that it takes a long time to feed the baby or that they are not interested in feeding after a short time. If the heartbeat is caused by a very fast heartbeat, parents may experience a rapid heartbeat through the chest wall while the baby is sleeping or resting peacefully.

Older children and teens can quickly complain of fatigue, especially if the virus infection damages the heart muscle.

Causes of heart failure in children

Heart failure is more common in children with certain congenital heart defects (congenital heart defects). These include defects like holes in the heart, which increase blood flow from one side of the heart to the other. It alters the dynamics of blood flow and weakens one side of the heart. The heart then becomes unable to support blood flow, resulting in further deterioration of heart function.

Other types of heart problems, such as cardiomyopathy, can also cause heart failure, a condition that affects the pumping function of the heart. Some non-heart problems, such as kidney failure, are caused by changes in the body’s fluid balance or hormonal changes that lead to high blood pressure.

Risk factors for heart failure in children

  • Smoking
  • High blood pressure
  • Diabetes
  • The high blood level of cholesterol
  • Physical inactivity
  • Obesity
  • Family history of early-onset heart disease

Symptoms of heart failure in children

Symptoms are slightly different for each child. They can include:

  • Swelling of the feet, ankles, calves, abdomen, liver, and cervix (edema)
  • Difficulty breathing, especially with rapid breathing, shortness of breath, or excessive coughing
  • Poor diet and weight gain (in babies)
  • Feeling tired
  • Excessive sweating when eating, playing, or exercising
  • Irritated

Older children may also have:

  • Weight loss
  • Passing out
  • Chest pain

The severity of the symptoms depends on how much the heart’s pumping ability is affected.

The symptoms of heart failure are similar to those of other conditions. See your child’s healthcare provider for a diagnosis.

Diagnosis of heart failure in children

Your child’s doctor will obtain a complete medical history and physical exam by asking questions about your child’s appetite, breathing patterns, and energy level. Other diagnostic procedures for heart failure may include:

  • Blood and urine tests
  • Chest X-ray: A diagnostic test that uses invisible X-rays to produce images of internal tissues, bones, and organs onto film.
  • Electrocardiogram (ECG or EKG): A test that records the electrical activity of the heart shows abnormal rhythms (arrhythmia or dysrhythmia) and can detect problems with the heart muscle.
  • Echocardiogram (echo): A noninvasive test that uses sound waves to study the movement of the heart’s chambers and valves. The echo sound waves create an image on the monitor when the ultrasound transducer passes over the heart.
  • Cardiac catheterization (cath): Assault test that inserts a small catheter into the heart from the groin or arm. It allows the different pressures within the heart to be measured to help detect heart failure. Also, a heart tissue biopsy can be obtained to determine the root cause of heart failure.

Treatment for heart failure in children

Treatment of heart failure in children depends on the cause of the problem. Most heart defects resolve on their own over time, and some can resolve with medication. Sometimes surgery or other procedures may be necessary. In some cases, your child may need a combination of therapies.   

Medicine

For some heart problems, children can take medicine after they get better. Medicines sometimes need to be taken for many years or even the child’s entire life.

Surgery

Heart surgery can provide a lifelong cure for certain heart conditions. The cardiac surgeon will discuss the risks and benefits with you in detail. Sometimes surgery can be delayed until your child is older and stronger, which means they will be able to tolerate the surgery better. Depending on the condition of your child, multiple operations may be required.

In very rare cases where surgery, procedures, or medications do not help, children may need a heart transplant.

Other procedures

Some procedures involve placing a narrow tube called a catheter into the heart through a vein to treat a heart defect. Your child will be given general anesthesia for this procedure.

Prognosis

All results depend on the cause. If the bleeding is constant due to a structural problem of the heart, the result is excellent.

Children with large ventricular septal defects, whose pores are small or surgically closed, can lead normal lives. Children with more complicated congenital heart disease may have more variable outcomes.

Older children with cardiomyopathy can progress if the cause of the cardiomyopathy is not reversible. The key to managing heart failure is making a proper diagnosis, staying in contact with a cardiologist, and taking prescribed medications daily.

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What are Heart Problems in Children? | Cardiology

Overview of heart problems in children

Congenital malformations are abnormalities in the formation of the heart and/or its main blood vessels. These heart problems occur at birth in eight out of 1,000 babies, but go undiagnosed for many years. The abnormalities range from simple defects, such as a small hole in the wall between the two chambers of the heart, to more complex problems.

Although congenital heart defects are one of the most common birth defects, it can be difficult to know if your child has one. Most heart problems recover during pregnancy or immediately after birth, but others may not be apparent until the baby is a little older.

Heart disease in children

Heart disease is very difficult when touched by adults, but it is especially tragic in children. Heart disease can occur for a variety of reasons, from viral infections to chromosomal abnormalities, and can arise as problems secondary to other diseases or conditions in the body. In most cases, the cause of heart disease is unknown.

The good news is that with the advancement of medicine and technology, many children with heart disease are living full and active lives.

Causes of heart problems in children

A congenital heart defect is a condition (or one of the main heart problems in children) that you are born into. Certain genetic (inherited) diseases or disorders, such as Down syndrome, are associated with congenital heart defects. Certain substances or diseases that a pregnant woman is exposed to can cause congenital heart defects in the fetus, some of which include prescription drugs, rubella (German measles), and uncontrolled diabetes.

Risk factors for heart problems in children

Risk factors for these heart problems in children are divided into two categories: major and contributing. The major risk factors of heart problems in children have been shown to increase your risk of heart disease. There is a risk of heart disease due to proportionate risk factors.

If you have higher risk factors, you are more likely to have heart disease. Some risk factors of heart problems in children can change, treat, or modify and others cannot. But by controlling as many risk factors as possible through lifestyle changes, medications, or both, you can lower your risk of heart disease.

Major risk factors for heart problems in children are:

  • High blood pressure (Hypertension)
  • High blood cholesterol
  • Diabetes
  • Obesity and Overweight
  • Smoking
  • Physical Inactivity
  • Gender
  • Heredity
  • Age

Contributing risk factors to heart problems in children are:

  • Stress
  • Sex hormones
  • Birth control pills
  • Alcohol

Symptoms of heart problems in children

  • Heart murmurs (abnormal heartbeats), depending on the location and nature of the disorder.
  • Symptoms of cardiac arrest, increased breathing rate, shortness of breath, tachycardia
  • “Blue baby” syndrome, in which the skin changes color from lack of oxygen to blue or purple.
  • Clubfoot or spread with a nail that extends the fingers and toes
  • An abnormal increase in red blood cell circulation.
  • Liver dilation
  • Pulse that is hard to hear or has no pulse
  • Cold hands and feet
  • Signs of organ failure, including low urine output or kidney failure
  • The expansion of the heart’s chambers results in the need to work harder to overcome the defect.

Diagnosis of heart problems in children

To diagnose a congenital heart defect or any heart problems in children, your doctor may recommend that you or your baby have some of the following tests and procedures:

  • Echocardiography: Track your / your child’s progress over time to diagnose or not diagnose heart failure. Fetal echocardiography can sometimes diagnose congenital heart defects before the baby is born.
  • Electrocardiogram (EKG or ECG): To evaluate the rhythm of the heartbeat.
  • Cardiac catheterization: Measure the pressure and oxygen levels within the chambers of the heart and blood vessels. This helps to know if blood is flowing from the left side of the heart to the right side of the heart instead of going to the rest of the body.
  • Chest X-ray: To show if the heart is dilated. It also shows whether there is excess blood flow or excess fluid in the lungs, which is a sign of heart failure.
  • Genetic testing: To find out if specific genes or genetic syndromes like Down syndrome are causing congenital heart defects. Your doctor can refer you or your child to a genetic testing specialist.
  • Cardiac MRI: Track your / your child’s progress over time to diagnose heart failure or not.
  • Pulse oximetry: Estimate the amount of oxygen in the blood. The small sensor is placed on the hand or foot of the baby or on the finger or toe of the elderly person.

Treatment for heart problems in children

Treatment for heart problems in children depends on the part of the heart affected. Some children do not need treatment if the effect on blood flow is minimal. Others require medication or intervention, such as cardiac catheterization or surgery. Some heart problems in children may not be treated right away, but wait until the child is an adult. Some heart problems in children are dealt with in stages. In such cases, there are options:

● Medications: Many medications help the heart work more efficiently. Some are also useful for preventing blood clots and controlling irregular heartbeats.

● Implantable heart devices: Some devices, such as pacemakers, can help control abnormal heart rates and implantable cardiovascular defibrillators (ICDs), which can correct irregular heart rates and prevent some of the problems associated with congenital heart defects.

● Catheter procedures: These allow doctors to surgically correct or repair congenital heart defects without opening the chest or heart. Here, the doctor inserts a catheter through a vein in the leg to guide the heart. Using small tools threaded through the catheter, he/she proceeds to correct the error. With the advancement of technology, many heart defects can be closed at the cathode in cathode procedures. This reduces the risks and complications of heart surgery.

● Open-heart surgery: These may be necessary if catheter procedures do not correct the error. These can close the openings of the heart, dilate the blood vessels, or repair the heart valves.

● Heart transplant: In cases where the congenital heart defect is too difficult to repair, a heart transplant may be used. In the process, the healthy donor heart replaces the patient’s heart.

Complications of heart problems in children

Congenital heart disease or heart problems in children can cause complications including:

  • Arrhythmia: The heart may beat very fast, very slow, or abnormally due to a defect or scarring after surgery.
  • Congestive heart failure: When the heart cannot efficiently pump oxygen-rich blood to the rest of the body, symptoms affect various body systems.
  • Heart infections (endocarditis): This infection of the thin layer that lines the inside of the heart occurs when bacteria or other germs enter the bloodstream from another part of the body and remain in the heart. If left untreated, it can damage your heart valves or lead to a stroke.
  • Pulmonary hypertension: This type of high blood pressure only affects the arteries in the lungs. Some heart defects cause more blood to flow to the lungs. As pressure increases, the heart has to work harder, causing the muscles to weaken and sometimes fail. Permanent damage to the pulmonary artery can also occur.
  • Slower growth and development: Children with severe congenital heart defects may be younger and learn to walk and talk later than other children.
  • Stroke: Although rare, blood clots can travel to the brain through a hole in the heart or occur during corrective surgery.
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Symptoms and Treatment for Brain Stem Stroke | Cardiology

What is a brain stem stroke? 

The brain stem stroke regulates breathing, eye movement, facial movement, heart rate, and blood pressure. Sitting just above the spinal cord, the brain stem controls your breathing, heartbeat, and blood pressure. It also controls your speech, swallowing, hearing, and eye movements. Impulses sent by other parts of the brain travel through the brain stem on their way to various body parts.

We’re dependent on brain stem function for survival. A brain stem stroke threatens vital bodily functions, making it a life-threatening condition. When the blood supply to a part of the brain is cut off, a stroke occurs because the blocked artery or blood vessels are leaking. The brainstem is located at the base of the brain and is responsible for receiving and transmitting information throughout the body.

The brain stem regulates essential bodily functions, namely:

  • Breathing
  • Swallow
  • Eye movement
  • Facial movement and sensation
  • Listening
  • Heart rate
  • Blood pressure
  • Brain stem strokes affect a person’s basic bodily functions and can lead to chronic problems.

Symptoms of brain stem stroke

Dizziness and loss of balance are common symptoms of a stroke. Because the brain stem regulates different types of motor functions, strokes in this area of the brain can cause a wide variety of symptoms. Brainstem strokes affect important bodily functions, including:

  • Breathing
  • Swallow
  • Heart rate

The brain stem receives different signals from the brain and sends them to different parts of the body. Brainstem strokes interrupt these signals, so people may experience physical symptoms, such as numbness or weakness in the face, arms, or legs.

Other common symptoms of a stroke:

  • Dizziness
  • Loss of balance
  • Vertigo
  • Blurred or double vision
  • Trouble speaking or swallowing
  • Headache
  • Confusion

Stroke syndromes of the brain system

Some stroke syndromes of the brain system have an unrelated set of symptoms because their control is in small concentrated areas of the brain system that share the same blood supply.

Ondine’s curse: Ondine’s curse due to a lower spinal injury affects voluntary breathing.

Weber syndrome: Weber syndrome is a stroke of the midbrain that causes weakness in the front of the body, which is accompanied by weakness of the eyelids and weakness of eye movements.

Blockage syndrome: Blockage syndrome affects strokes and leads to complete paralysis and inability to speak, the ability to move consciousness, and intact eyes. This may be due to a very abnormal salt and fluid balance.

Wallenberg syndrome: Also known as a lateral spinal syndrome, Wallenberg syndrome causes sensory deficits of the face on the same side as stroke and sensory deficits of the body.

Types of brain stem stroke 

There are two main types of strokes, both of which affect the brain stem:

Ischemic stroke:

  • Ischemic strokes occur when blood clots form in narrow arteries in the head or neck and cut off the blood supply to an area of the brain.
  • Ischemic strokes are the most common type, accounting for 87% of all strokes. About 10% of all ischemic strokes affect the brain stem.
  • A transient ischemic attack (TIA), also known as a mini-stroke or warning stroke, when the blood supply to the brain is briefly interrupted. TIAs cause milder symptoms than full ischemic strokes, and most symptoms clear up within an hour.

Brain-vascular hemorrhagic accident:

  • Brain bleeding or hemorrhage occurs when weak blood vessels leak or open, creating swelling and pressure. This stress damages the tissues and cells of the brain.
  • Hemorrhagic strokes are less common than other types of strokes but account for 40 percent of all stroke deaths.

Risk factors of brain stem stroke

High blood pressure increases the risk of stroke. Anyone can have a stroke, but specific genetic factors such as family history, gender, race, and age put some people at higher risk for stroke than others. Women have more strokes than men and are more likely to die from a stroke than men.

Some risk factors specific to women:

  • Use of hormone replacement therapies
  • Long-term use of birth control pills in combination with other risk factors such as smoking
  • The pregnancy
  • People of African American and Hispanic descent are also at risk for stroke.
  • Most strokes occur in people over the age of 65. However, research suggests that the rate of stroke hospitalizations and the presence of risk factors for stroke in young children has increased significantly.

Medical conditions that increase the risk of stroke:

  • Hypertension
  • High cholesterol
  • Atrial fibrillation (AFib)
  • Diabetes
  • is blackberry
  • Heart disease (CVD)
  • Lifestyle risk factors

People cannot control genetic factors, but they can control lifestyle factors that increase the risk of stroke. Behaviors that increase the risk of high blood pressure or clotting increase the risk of stroke.

Behaviors that increase the risk of stroke:

  • Smoke tobacco
  • Excessive drinking
  • Consumption of illicit drugs
  • Sedentary lifestyle
  • Lack of food 

Diagnosis of brain stem stroke

Brain stem stroke is a fatal medical emergency. If you have symptoms that indicate a stroke, your doctor may order imaging tests such as an MRI, CT scan, Doppler ultrasound, or angiogram. The cardiac function test may include an EKG and an echocardiogram. Additional diagnostic procedures may include blood tests, as well as kidney and liver function tests. 

Treatment for brain stem strokes

When an ischemic stroke occurs, the first line of treatment is clotting or drawing the blood. If a stroke is diagnosed quickly, blood thinners can be given. If possible, a catheter can be used to clot during a procedure called an embolectomy. In some cases, angioplasty and stenting are used to widen and keep the artery open. Bleeding For a stroke, the bleeding must stop.

Sometimes a clip or coil is placed over the aneurysm to stop the bleeding. Medications to reduce clotting may also be needed. During this time, your medical team will need to take extra steps to keep your heart and lungs working. Brain stem stroke is a medical emergency. You need immediate treatment to save lives and reduce the risk of permanent complications.

Treatment depends on the type, location, and severity of the stroke:

Ischemic stroke: In the treatment of ischemic stroke, blood flow is restored through clotting. The methods include the following:

  • Anticoagulant drugs, such as tissue plasminogen activator (T-PA), help dissolve clots and restore blood flow to the affected area.
  • Antiplatelet drugs such as warfarin. The doctor may prescribe aspirin if a person has a lower risk of having a heart attack or stroke and bleeding. Current guidelines do not recommend the use of aspirin as in the past.
  • Endovascular therapy, which is a surgical procedure that involves the use of mechanical reclaimers to clot the blood.
  • Other devices, such as balloons or stents, can be used to open narrow blood vessels and improve blood flow.

Brain-vascular hemorrhagic accident: Treatment of hemorrhagic strokes focuses on controlling bleeding and reducing stress on the brain. Treatment methods:

  • Give medicine to control blood pressure and prevent seizures.
  • Spiral embolization, which is a surgical procedure that helps blood to clot in a weakened vessel. Clotting reduces bleeding and prevents blood vessels from reopening.
  • Once bleeding in the brain has been controlled, doctors can perform surgical procedures to prevent the ruptured blood vessel from bleeding again.

Prevention of brain stem strokes

It is estimated that 80 percent of strokes are preventable. People can reduce their risk of stroke by making the following lifestyle changes:

  • It controls the levels of lipids and cholesterol
  • Control blood pressure with medications and behavior changes
  • Manage medical conditions like diabetes
  • Give up smoking
  • Eat a diet low in fat and sodium
  • Make sure you have plenty of fresh fruits and vegetables in your diet
  • At least 150 minutes of moderate-intensity aerobic exercise per week or at least 75 minutes of vigorous aerobic exercise per week
  • Restoration and perspective
  • Brain stem stroke can lead to serious chronic problems. Medications and behavior changes can help reduce the risk of future strokes.
  • Physical therapy improves muscle strength and coordination and ultimately helps people regain lost motor skills.
  • Speech and language and occupational therapy can help people improve their cognitive skills, such as memory, problem-solving, and judgment.
  • Some people with stroke and severe disabilities need counseling to adjust.
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Overview of Nervous System Problems in Women | Neurology

What are the nervous system problems in women?

The nervous system problems in women may be a complex and complicated system that regulates and coordinates bodily activities. it’s made from two main divisions, including the following:

  • Central system nervous: It consists of the brain and medulla spinalis.
  • Peripheral system nervous: It consists of all the opposite neural elements, including the peripheral nerves and therefore the autonomic nerves.

In addition to the brain and medulla spinalis, the main organs of the system nervous include the following:

  • Eyes
  • Ears
  • Sensory organs of taste
  • Sensory organs of smell
  • Sensory receptors located within the skin, joints, muscles, and other parts of the body.

The nervous system is subject to various disorders. It can be harmed by the following:

  • Trauma
  • Infections
  • Degeneration
  • Structural defects
  • Tumors
  • Interruption of blood flow
  • Autoimmune disorders

Nervous system problems in women can involve the following:

  • Vascular disorders, like stroke, transient ischemic attack (TIA), subarachnoid hemorrhage, subdural hemorrhage, and extradural hematoma and hemorrhage
  • Infections, like meningitis, encephalitis, polio, and epidural abscess
  • Structural disorders, like brain or medulla spinalis injury, Bell’s palsy, cervical spondylosis, carpal tunnel syndrome, brain or medulla spinalis tumors, peripheral neuropathy, and Guillain-Barre syndrome
  • Functional disorders, like headache, epilepsy, dizziness, and neuralgia
  • Degeneration, like paralysis, MS, amyotrophic lateral sclerosis (ALS), Huntington’s chorea, and Alzheimer’s disease

Symptoms of nervous system problems in women

The following are the foremost common general signs and symptoms of nervous system problems in women. However, each individual may experience symptoms differently.

Symptoms of nervous system problems in women can include:

  • Persistent or sudden headache
  • A headache that changes or is different
  • Loss of sensation or tingling
  • Weakness or loss of muscle strength
  • Loss of sight or diplopia
  • Memory loss
  • Impaired brain
  • Lack of coordination
  • Muscular stiffness
  • Tremors and seizures
  • Back pain that radiates to the feet, toes, or other parts of the body
  • Loss of muscle mass and difficulty speaking
  • New language impairment (expression or comprehension)

The symptoms of nervous system problems in women may resemble other medical conditions or problems. Always consult your healthcare provider for a diagnosis.

There are many sorts of nervous system problems in women, including:

  • Alzheimer’s disease (AD)
  • Epilepsy
  • Multiple sclerosis
  • Paralysis agitans
  • Migraines

Causes of nervous system problems in women

If you think that you simply or a beloved could also be affected by one among these nervous system problems in women, you’ll even be wondering what causes a nervous disorder. The causes of such dysfunction are often quite diverse. Both the medulla spinalis and therefore the brain is insulated by numerous membranes that will be susceptible to force and pressure. Peripheral nerves located deep under the skin also can be susceptible to damage. Nervous system problems in women can affect a whole neurological pathway or one neuron. Even a little alteration during a neuron’s structural pathway may result in dysfunction. As a result, neurological disorders are often thanks to a variety of causes, including:

  • Lifestyle-related causes
  • Infections
  • Genetics
  • Nutrition-related causes
  • Environmental influences
  • Physical injuries

Medications

Medication Options for nervous system problems in women

While it’s understandable that the thought of being diagnosed with a nervous disorder is often terrifying, it’s important to know that there are medication options for nervous system problems in women. These options can assist you or your beloved in better control your condition, reduce symptoms, and improve your quality of life.

Neurological drugs: Possible options for nervous system problems in women

The type of drugs which will be wont to treat your nervous disorder will depend upon your condition. Possible neurological drug options may include corticosteroids, which are often indicated for the treatment of MS . this sort of drug can help decrease inflammation. Medications that affect dopamine, like levodopa, are commonly utilized in the treatment of Parkinson’s to assist with stiffness and tremors.

Side effects of medicines

When taking medication to treat any condition or disorder, it’s important to know that you simply may experience certain side effects. The side effects of medicines associated with the treatment of neurological disorders may vary counting on your own situation and therefore the sort of medication in question. In some cases, you’ll develop a dependence on the drugs you’re taking. this will occur albeit it’s a prescription and you’re taking it to treat significant ill health, like a nervous disorder.

Depression and neurological problems

Depression and neurological problems are often interrelated. thanks to the debilitating nature of depression, people that suffer from it, also as neurological problems, can find it challenging to recover without professional assistance. There are many treatment options available that will assist you to treat your depression, including combination therapy with medications.

Dual diagnosis: Addiction and neurological disorders

Seeking the assistance of a middle that gives the power to form a dual diagnosis, as the diagnosis of an addiction aggravated by a nervous disorder, is critical to achieving optimal recovery. If one problem is treated but the opposite isn’t treated, the probabilities of a full recovery may decrease. At a treatment center that focuses on addressing both addiction and neurological issues, you’ll be ready to receive the critical assist you need for your addiction while ensuring that your nervous disorder is treated also.

Diagnosis of nervous system problems in women

Assessing and diagnosing harm to the sensory system is confounded and complex. A significant number of the equivalent symptoms happen in various mixes among the various issues. To additionally confound the symptomatic cycle, numerous issues don’t have complete causes, markers, or tests.

Notwithstanding a total clinical history and physical test, symptomatic strategies for nervous system problems in women may incorporate the accompanying:

  • Computed tomography scan (also called a CT or CAT scan)
  • Electroencephalogram (EEG)
  • Magnetic resonance imaging (MRI)
  • Electrodiagnostic tests, such as electromyography (EMG) and nerve conduction velocity (NCV)
  • Positron emission tomography (PET)
  • Arteriogram (also called an angiogram)
  • Spinal tap (also called a lumbar puncture)
  • Evoked potentials
  • Myelogram
  • Neurosonography
  • Ultrasound (also called sonography)

Treatment of nervous system problems in women

Neurological disorders are undoubtedly one of the foremost terrifying diseases that humans face. Other sorts of dysfunction, like cancer or viruses, are a minimum of easily understood, if not so easily treated. A malfunctioning pancreas, problematic because it could also be, doesn’t strike the guts of what it means to be human, and can basically leave its victim intact as an individual.

Knowledge is usually the sole power that exists against the vagaries of neurological diseases. Learning the causes of neurological problems can make the difference between a totally voting patient who is responsible for his or her own care decisions and a helpless and terrifying subject who is preoccupied with mysterious ailments that make no sense.

Therapies for neurological disorders

Aside from the question of cure, sometimes patients with neurological problems can receive rehabilitation as a part of an attempt to revive some lost function. this is often usually a hopeful sign because it is rare to seek out a patient assigned to therapy when there’s little or no hope of a minimum of partial recovery. Therapies for nervous system problems in women can often consist of:

  • Lifestyle changes to stop or minimize the impact of such conditions.
  • Physiotherapy to regulate symptoms and restore some function
  • Pain management, as many deficiencies are often related to considerable discomfort
  • Medications to revive function or prevent a worsening of the patient’s condition

Cognitive therapy treatments

One approach to treating primarily behavioral neurological problems is understood as cognitive behavioral therapy, formerly referred to as talk therapy. CBT focuses on reorienting a patient’s thoughts and behavior associated with their disability. While this is often obviously not an adequate response to several brain and systema nervosum disorders, like paralysis agitans or epilepsy, it’s shown a big effect in treating ADHD, anxiety, and other mood disorders. , and a spread of mainly psychogenic deficiencies.

It’s several advantages, one among which is that it doesn’t pose the danger of side effects like medications or other interventions might. CBT can often be administered by someone aside from a physician, although it must be administered by licensed therapists. it’ll often be among the primary options for patients, given its generally non-invasive nature.

Other therapeutic methods

Clearly, CBT isn’t necessary in the case of patients recovering from a stroke, traumatic injury, or degenerative brain diseases. In cases like these, other therapeutic methods are preferred. These can range from medications like neuroleptics (haloperidol and chlorpromazine, for example) that are wont to treat organic brain disorders like schizophrenia, to comparatively simple pain relievers, like ibuprofen, acetaminophen, and opiates to treat the painful effects of the many neurological diseases.

Residential inpatient neurological treatment centers

One of the choices nearby might be any number of residential inpatient neurological treatment centers. These institutions, sometimes mentioned simply as rehabilitation centers, often focus their attention on treatable disorders, the most ones being problems of alcoholic abuse and other chemical dependencies.

Luxury neurological treatment facilities

The sometimes bitter pill of relocation and treatment can be sweetened considerably at the prospect of admission to one of the many luxury neurological treatment facilities. They are mostly inpatient or residential care facilities but provide care in a resort-like setting.

Executive neurological treatment programs

Often, those with behavioral deficiencies, such as addictions to substances or processes, will have a difficult time breaking away from the ongoing demands of everyday life. They may have jobs that don’t allow them time off or family responsibilities. In cases like these, you can arrange treatment into an executive neurological treatment program that specializes in quickly addressing the needs of the inpatient clinical patient and quickly reintegrating them into their jobs and families.

Outpatient neurological rehabilitation and treatment programs

Sometimes patients and their care providers feel that the demands of hospital care are excessive or impossible due to life circumstances. In cases like this, outpatient neurological rehabilitation and treatment programs may be the most desirable option for treatment. By maintaining a stable residence, a patient in this type of therapeutic treatment course will often present to an outpatient clinic for a specified period to receive agreed-upon care.

Prescription and over-the-counter drugs

A valuable adjunct to the clinical care of those with nervous system problems in women is the provision of effective prescription and non-prescription medications. While not all brain and nervous system conditions respond to medication, a surprising number do, and it is rare for a healthcare provider to overlook such a powerful tool for managing the effects of neurological problems.

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General Topics

Things to know about Multiple Sclerosis in Children | Neurology

What is multiple sclerosis in children?

Multiple Sclerosis in Children is a disorder of the central nervous system. This means that it affects the brain and spinal cord. It is an autoimmune disease as well as inflammatory – meaning that white blood cells, which protect against infection, enter the nervous system, and cause damage. The damage occurs because the myelin sheath, the protective covering of nerves, is stripped of antibodies produced by the immune system. (This is called demyelination). Multiple sclerosis is a long-term disease that can happen to anyone.

Multiple sclerosis begins in children or teenagers. About 98% have relapsing and migratory MS, versus 84% ​​of adults with MS. This means that symptoms come and go (relapse and remission). When symptoms disappear, the disease can still progress. This condition may also be called pediatric multiple sclerosis (POMS), early MS, or juvenile MS. Relapses seem to occur more often in children and teens. This group appears to recover from neurological disability more quickly but is at increased risk of cognitive difficulties that can affect schoolwork.

Symptoms of multiple sclerosis in children

MS symptoms depend on which nerves are affected. Because myelin damage is intermittent and can affect any part of the central nervous system, symptoms of MS are unpredictable and vary from person to person. In children, Multiple sclerosis is often the relapsing and dormant type. This means that the disease alternates between relapses, in which a person appears new symptoms, and calm, where there are only mild or no symptoms.

Attacks can last from days to weeks, and remission can last for months or years. Ultimately, the disease can progress to permanent disability. Most symptoms of multiple sclerosis in children are the same as in adults, include:

  • Weakness
  • Tingling and numbness
  • Eye problems, including vision loss, pain with eye movement, and double vision
  • Balance problems
  • Difficulty walking
  • Shivering
  • Spasticity (constant muscle contraction)
  • Problems with bowel and bladder control
  • Unclear

Symptoms such as weakness, numbness, tingling, and vision loss usually occur on one side of the body at a time. Mood disorders occur more frequently in children with MS. Depression is the most common, occurring in about 27 per cent of children with MS. Other frequent causes include:

  • Anxiety
  • Bipolar depression
  • Adjustment disorder
  • Panic disorder

Almost 30 per cent of children with multiple sclerosis have a cognitive impairment or problem with their thinking. Include the most affected activities:

  • Memory
  • Information processing
  • Executive functions like planning, organizing, and decision-making
  • Attention span
  • Speed and coordination performing tasks

Some symptoms appear more frequently in children but rarely in adults. These symptoms:

  • Seizures
  • Lethargy

Causes of multiple sclerosis in children

The cause of multiple sclerosis in children (and adults) is unknown. It is not contagious, and there is nothing that can be done to prevent it. However, there are several things that appear to increase your risk of developing it:

  • Genetics/family history: MS is not inherited from the parents, but if a child has certain sets of genes or a parent or sibling has MS, they are more likely to develop it.
  • Exposure to the Epstein-Barr virus: This virus may act as a trigger that releases MS in children exposed to it. However, many children are exposed to the virus and do not develop MS.
  • Low levels of vitamin D: MS is found more often in people in northern climates where there is less sunlight than around the equator. Our bodies need sunlight to produce vitamin D, so people in northern climates tend to have lower levels of vitamin D. Researchers believe this may imply a link between multiple sclerosis and low vitamin D. Additionally, low vitamin D levels increase the risk of relapse.
  • Exposure to smoking: Cigarette smoke, both direct use and passive exposure, has been shown to increase the risk of developing multiple sclerosis.

Evaluation and diagnosis of multiple sclerosis in children

Children who have been diagnosed with MS have a type called relapsing multiple sclerosis. This type of multiple sclerosis in children is characterized by recurrent episodes that cause new or worsening neurological symptoms, followed by periods without new symptoms, called remissions.

At the time of the first attack, it is not always clear whether the diagnosis of MS is appropriate because the relapsing disease has not yet occurred. New relapses or attacks will confirm your child’s diagnosis and provide insight to help their doctors better manage their care.

There is no single diagnostic test for MS. In most cases, MS is diagnosed in a combination of ways. Your child’s health care provider will take a thorough medical history and order tests that may include:

  • Neurological examination
  • Magnetic resonance imaging to check for lesions in the brain, spinal cord, or optic nerves
  • Lumbar puncture to check the cerebrospinal fluid for antibodies and proteins associated with multiple sclerosis

In some patients, the first MRI scan shows multiple lesions so closely aligned with MS that multiple sclerosis in children can be diagnosed after only one clinical attack. While not common, an early diagnosis can provide an important opportunity for early treatment.

Treatment of multiple sclerosis in children

Although there is no cure for multiple sclerosis in children, there are treatments aimed at reducing new lesions and relapses and slowing the progression of the disease:

  • Steroids can reduce inflammation and reduce the length and severity of relapses.
  • Plasma exchange, which removes antibodies that attack myelin, may be used to treat relapse if steroids do not work or are not tolerated.

Certain symptoms may be treated with other medicines to improve the quality of life. Physical, occupational and speech therapy can also be helpful for children with multiple sclerosis.

Follow-up care

Close follow-up of multiple sclerosis in children is vital to long-term outcomes, and this is provided at the CHOP Children’s Clinic with Multiple Sclerosis and Inflammatory Neurological Disorders. We closely follow children for evidence of relapse, and to monitor drug efficacy. Follow-up MRI studies will also be required on a regular basis, and we will personally review these images during clinic visits.

long-term outlook

Multiple sclerosis in children is a chronic condition that must be dealt with throughout life. The course of the disease is difficult to predict and varies from person to person. Some have long periods of remission while others have frequent seizures.

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Disease

Symptoms and Causes of Ventricular Fibrillation | Cardiology

What is Ventricular fibrillation?

Ventricular fibrillation is a serious heart condition that causes abnormal heart rhythms. It can be fatal. For many people with this disorder, irregular heart rhythms are the first and only sign of coronary artery disease.

Ventricular fibrillation (VFib) can be confused with atrial fibrillation (AFib). Both involve irregular heart rhythms but affect different parts of the heart.

Atrial fibrillation can also indicate a serious heart condition, but it is usually a symptom of a chronic problem, not a life-threatening feature in and of itself.

Alternative names

VF; Fibrillation – ventricular; Arrhythmia – VF; Abnormal heart rhythm – VF; Cardiac arrest – VF; Defibrillator – VF; Cardioversion – VF; Defibrillate – VF.

Causes of ventricular fibrillation

Ventricular fibrillation can have several root causes, including:

  • Insufficient blood flow to the heart muscle
  • Damage to the heart muscle (from a heart attack, for sample)
  • Cardiomyopathy
  • Problems with the aorta
  • Drug toxicity
  • Sepsis (severe body infection)

Symptoms of ventricular fibrillation

When VF occurs, the two chambers at the bottom of your heart cannot pump with enough force to move blood through your body. These lower chambers are called ventricles. This causes your blood pressure to drop quickly and prevents blood from circulating through your body. As a result, the blood cannot reach your vital organs.

Fainting or loss of consciousness are the most common symptoms of VF; early symptoms include:

  • Chest pain
  • Dizziness
  • Nausea
  • Fast, fluttering heartbeat
  • Difficulty breathing

These first symptoms may occur an hour or less before fainting or unconsciousness occurs.

Risk factors for ventricular fibrillation

The most common risk factors are:

  • A weakened heart muscle (cardiomyopathy)
  • A previous or acute heart attack
  • Genetic diseases such as extensive or short QT syndrome, Brugada disease, or hypertrophic cardiomyopathy
  • Certain medications that affect heart function
  • Electrolyte abnormalities

Diagnosis of ventricular fibrillation

To diagnose V-fib, your healthcare provider will consider:

  • Your vital marks, such as blood pressure and pulse
  • Heart function tests, such as an EKG
  • Your medical and general health history
  • An explanation of your symptoms that you, a loved one, or a bystander provide
  • A physical exam

Treatment for ventricular fibrillation

  • Cardiopulmonary resuscitation
  • Prevent new episodes

Ventricular fibrillation should be treated as an extreme emergency. Cardiopulmonary resuscitation (CPR) should be started as quickly as possible. It should be followed by defibrillation (an electric shock to the chest), as soon as the defibrillator is available. Then, medicines used to treat abnormal heart rhythms may be given to help maintain a normal heart rhythm.

When ventricular fibrillation happens within hours after a heart attack in people who are not in shock and do not have heart disappointment, immediate cardioversion restores normal rhythm in 95% of people and the prognosis is good. Shock and heart failure propose severe damage to the ventricles. If the ventricles are severely damaged, even direct cardioversion has only a 30% success rate, and 70% of people who are resuscitated die without regaining normal function.

People who are successfully resuscitated from ventricular fibrillation and survive are at high risk for another episode. If ventricular fibrillation is caused by a rescindable disorder, that disorder is treated. Otherwise, most people have an implantable cardioverter-defibrillator (ICD) surgically implanted to correct the problem if it recurs. ICDs continuously monitor the heart rate and rhythm, automatically detect ventricular fibrillation, and deliver a shock to convert the arrhythmia to a normal rhythm. These people are also often given medications to prevent recurrences.

Prevention

If you have a first-degree relative (parent, brother, or child) with an inherited heart condition (congenital heart disease), talk to your doctor about genetic screening. Early identification of an inherited heart problem can guide preventive care and reduce the risk of complications.

Complications

People who have survived VF may be in a coma or have long-term damage to the brain or other organs.

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Disease

Diagnosis and Treatment of Atrial Tachycardia | Cardiology

What is atrial tachycardia?

Atrial tachycardia (AT) is a type of abnormal heart rhythm or arrhythmia. It happens when the electrical signal that controls the heartbeat starts from an unusual location in the upper chambers (atria) and rapidly recurrences, causing the atria to beat too quickly.

What happens during atrial tachycardia?

A normal heartbeat begins with an electrical instinct from the sinus node, a single point in the heart’s right atrium (right upper chamber). Throughout atrial tachycardia, an electrical impulse outside the sinus node fires repeatedly, often due to a short circuit – a circular electrical pathway. Electricity circles the atria, again and again, causing the upper chambers to agreement more than 100 times per minute. (A normal heart rate is between 60 and 100 beats per minute.) The rapid heart contractions prevent the chambers from filling completely between beats.

An arrhythmia placed in the upper chambers of the heart is called supraventricular tachycardia (SVT) – accurately, fast “heartbeat above the ventricles” (lower chambers). Atrial tachycardia usually occurs for brief periods and starts and stops spontaneously. That’s called paroxysmal AT. If it continues, it is called persistent AT.

Causes of atrial tachycardia

Atrial tachycardia happens most often in elderly patients and those with other types of heart disease, although it occasionally seems in children, younger people, and people with healthy hearts. Causes include:

  • A “stretched” atrium as a result of high blood pressure (hypertension) or cardiomyopathy
  • A previous heart attack
  • Excessive use of alcohol, cocaine, and other stimulants
  • An “irritable focus,” when cells outside the sinus node automatically start to generate an electrical impulse on their own
  • Sometimes atrial tachycardia is idiopathic, which means that doctors cannot find a specific cause

Symptoms of atrial tachycardia

Atrial tachycardia can cause the following symptoms:

  • Pressure or pain in the chest
  • Fainting, also known as syncope or near syncope
  • Fatigue
  • Lightheadedness or dizziness
  • Palpitations, which may jump, flap, or pound in the chest
  • Difficulty breathing

It is important to note that some children may not know how to describe what they feel during a period of atrial tachycardia. They may have trouble custody up with other children or realize that they are having “incantations” and want to sit and rest. Occasionally a child does not experience any symptoms at all.

Diagnosis of atrial tachycardia

The tests and procedures used to diagnose atrial tachycardia may include:

  • Blood tests to check thyroid function, heart disease, or other conditions that can trigger atrial tachycardia
  • Electrocardiogram (ECG) to measure the electrical activity of your heart and measure the time and duration of each beat
  • Holter monitor, which is a transportable ECG device designed to record your heart activity as you go about your routine
  • Echocardiogram, which uses sound waves to produce pictures of the size, structure, and movement of your heart

Your doctor may also try to trigger an episode with other tests, which may include:

  • A stress test, which is usually done on a treadmill or stationary bike while monitoring heart activity
  • Electrophysiological testing and plotting, which allows your doctor to see the precise location of the arrhythmia

Treatment for atrial tachycardia

Treatment of atrial tachycardia depends on the harshness of the condition and the factors that trigger it. In addition to managing any underlying conditions that may trigger your atrial tachycardia, your doctor may recommend or test:

  • Vagal maneuvers: You may be able to temporarily lower your heart rate by using particular maneuvers including holding your breath and straining, dipping your face in ice water, or coughing.
  • Medicines: Your doctor may suggest intravenous or oral medications to control your heart rate or restore a normal heart rhythm.
  • Cardioversion: If your arrhythmia (irregular heartbeat) does not respond to vagal maneuvers or medication, and if there is no identifiable and treatable condition that triggers it, your doctor may use electrical cardioversion. In the procedure, a shock is delivered to the heart through paddles or patches on the chest. The present affects the electrical impulses in your heart and can restore a normal rhythm.
  • Catheter ablation. In some cases, your physician may recommend tube ablation. For this procedure, your doctor inserts one or more catheters through the blood vessels to the heart. The electrodes on the catheter tips can use heat, extreme cold, or radiofrequency energy to damage (remove) a small part of the heart tissue and create an electrical jam along the pathway that is causing the arrhythmia.
  • If you experience common episodes of atrial tachycardia and all other treatment options are vain, your doctor may suggest implantation of a small device called a pacemaker to deliver electrical impulses that kindle your heart to beat at a normal rate. For people with AT, this procedure is usually shadowed by the ablation of the AV node.

Complications

Incessant (prolonged) atrial tachycardia can lead to cardiomyopathy (a weakening of the heart muscle) and heart failure. This type of cardiomyopathy is often reversible if the atrial tachycardia can be controlled.

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Disease

Signs and Symptoms of Costello Syndrome | Cardiology

What is Costello syndrome?

Costello syndrome is a very rare genetic condition. It occurs when there is a change (mutation) in a gene called the HRAS gene. This happens in a child’s DNA before birth.

Costello syndrome causes glitches that affect the heart, muscles, bones, skin, brain, and spinal cord. There is no cure for the condition, but doctors can help children control most symptoms.

Alternate name

  • Faciocutaneoskeletal syndrome

Causes of Costello syndrome

Mutations in the HRAS gene cause Costello syndrome. This gene provides orders for making a protein called H-Ras, which is part of a pathway that helps control cell growth and division. The mutations that cause Costello syndrome to lead to the production of an H-Ras protein that is turned on (activated) in an abnormal way. The overactive protein causes cells to constantly grow and divide, which can lead to the development of cancerous and non-cancerous tumors. It is not clear how mutations in the HRAS gene cause the other features of Costello syndrome, but many of the signs and symptoms are likely the result of excessive cell growth and abnormal cell division.

Some people with signs and symptoms such as Costello syndrome do not have an identified mutation in the HRAS gene. These individuals may have CFC syndrome or Noonan syndrome, which are caused by mutations in related genes. The proteins produced from these genes interact with each other and with the H-Ras protein as part of the same cell growth and division pathway. These interactions help explain why mutations in different genes can cause conditions with overlapping signs and symptoms.

Signs and symptoms of Costello syndrome

Babies with Costello syndrome are usually of normal or high birth weight, but show poor sucking ability, have difficulty swallowing, and do not grow or gain weight at the expected rate (growth retardation). Growth delay after birth generally results in short stature during childhood and adulthood. Affected children may have a developmental delay or mild to moderate intellectual disability. In some people, the development of speech and/or the ability to walk is significantly delayed. Children with Costello syndrome generally have warm and sociable personalities.

People with Costello syndrome often have loose skin (cutis laxa) on the neck, palms, fingers, and soles of the feet. The skin in these areas may lack elasticity and become loose; Furthermore, the skin may appear wrinkled and thickened. In some cases, certain areas of the skin may turn unusually dark (hyperpigmentation). Also, most patients with this disorder develop dry, hardened patches of skin (hyperkeratosis) with unusually deep folds on the palms and soles of the feet. Some affected individuals may also have skeletal abnormalities such as disrupted hips, abnormally flexible (hyperextensible) finger joints, wrists bent toward the little finger (ulnar deviation), and/or unusual tension of the fibrous cords at the back of the heels (Achilles tendon). Other skeletal abnormalities include side-to-side curvature of the spine (scoliosis), front-to-back curvature of the spine (kyphosis), and reduced range of motion in the shoulders and elbows.

Children with Costello syndrome often develop papillomas around the mouth and nasal passages. Papillomas can develop as young as two years of age or older. In some cases, these wart-like lesions (warts) can be found near the anus. Papillomas generally become more apparent with age. Other benign tumors have also been reported.

Children with Costello syndrome have a characteristic facial appearance. Characteristic facial features may include an abnormally large head (macrocephaly); low-set ears with large, thick lobes; unusually thick lips; a large, depressed bridge of the nose; abnormally wide nostrils (nostrils); and a rough facial appearance. Also, affected children may have unusually curly hair and/or sparse, thin hair on the front (anterior) part of the head. Some children have folds of skin over the inner corners of the eyes (epicanthus folds).

In early childhood, the relative overgrowth of the rhombencephalon compared to the available space in the posterior fossa of the skull cavity can lead to thronging and neurological problems. Because severe crowding requires surgical intervention, magnetic resonance imaging of the brain and cervical spine has been suggested.

Changes in the eyes and vision are shared and include nystagmus (rapid eye movements) in younger individuals, strabismus, and rarely keratoconus (abnormal thickening of the cornea) in older individuals.

Children with Costello syndrome often have sure heart abnormalities. These may include structural malformations of the heart that are present at birth (congenital heart defects); abnormal thickening of the muscular walls of the lower left chamber of the heart (hypertrophic cardiomyopathy); valve leakage between the left upper (atrial) and lower (ventricular) chambers of the heart (mitral valve prolapse); and/or other heart defects. Symptoms and associated findings may include abnormal heart sounds (heart murmurs) that can be detected by a physician using a stethoscope; shortness of breath, particularly when exercising; weakness; chest pain; abnormal heart rhythms (arrhythmias); and/or other findings that can potentially lead to life-threatening complications without proper treatment.

Affected people have an approximately 15% lifetime risk of developing malignant tumors, such as cancer of the muscle tissue (rhabdomyosarcoma), cancer of the nerve cells (neuroblastoma), and transitional cell carcinoma of the bladder.

In some cases, the symptoms and answers of Costello syndrome overlap with two similar disorders recognized as Noonan syndrome and cardiofaciocutaneous syndrome that are caused by mutations in different genes.

Diagnosis of Costello syndrome

Costello syndrome is very rare, so a doctor is unlikely to immediately suspect it.

A doctor will begin by assessing the child’s height, head size, and birth weight.

The next stage includes molecular genetic testing. Sequence analysis is approved out on the HRAS gene to see if there is an alteration related to Costello syndrome.

Treatment for Costello syndrome

There is no cure for Costello syndrome, nor is there any specific treatment, but aspects of the syndrome, for example, heart conditions, hypertrophic cardiomyopathy, can be specifically treated.

Ways to help the individual manage the condition include:

  • Help a child overcome feeding difficulties during infancy
  • Treatment for heart problems
  • Providing special education
  • Researchers are looking for an effective way to treat the condition at the genetic level.

Other interventions include:

  • Physical therapy and occupational therapy
  • Surgery to lengthen the Achilles tendon
  • Removal of papillomas with cryotherapy

Complications

Costello syndrome is a complex, multi-system condition that can lead to a variety of complications.

Babies may not be able to feed by mouth until they are 2 to 4 years old, or around the same time, they begin to speak.

Cardiovascular problems usually appear from early childhood, although symptoms may not appear until later. These include congenital heart defects and cardiac hypertrophy. The person may experience tachycardia or rapid heartbeat and arrhythmias or irregular heart rhythms.

Macrocephaly, or overgrowth of the brain, has been observed in 50 percent of patients. This can lead to a Chiari malformation, a structural defect in the brain found in 32 percent of people, according to one study. Seizures appear to affect between 20 and 50 percent of people with the condition.

There may be delays in bone growth, low bone density, and an increased risk of bone fractures and osteoporosis. Vitamin D and calcium supplements can help.

Tumors, most commonly papillomas, small growths that resemble warts, can develop, especially around the nose, mouth, and anus.

People with Costello syndrome are prone to developing cancerous and non-cancerous tumors. Cancerous tumors include rhabdomyosarcoma, neuroblastoma, and transitional cell carcinoma.

Two other genetic conditions with similar symptoms are Noonan syndrome and cardiofaciocutaneous syndrome (CFC). Overlapping symptoms make it difficult to diagnose Costello syndrome during childhood.

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Disease

Signs and Symptoms of Becker Muscular Dystrophy | Neurology

What is Becker muscular dystrophy?

Becker muscular dystrophy is a category of muscle-wasting disease caused by a mutation that results in a deficiency or abnormal production of the protein dystrophin (dystrophinopathies). The abnormal gene is called DMD and it is located on the X chromosome. Becker muscular dystrophy follows an X-linked recessive inheritance, so it mainly affects men, but some women are affected. Becker muscular dystrophy usually begins in the teens or early twenties, and symptoms vary greatly between affected people. Muscle atrophy develops slowly but usually requires a wheelchair. In some affected people, the heart muscle becomes weak (cardiomyopathy) and this process can be fatal. There may be learning problems associated with visual skills.

Both the Duchenne and Becker forms of muscular dystrophy are associated with a heart condition called cardiomyopathy. This form of heart disease weakens the cardiac muscle, preventing the heart from pumping blood efficiently. In both Duchenne and Becker muscular dystrophy, cardiomyopathy typically begins in adolescence. Later, the heart muscle becomes enlarged, and the heart problems develop into a condition known as dilated cardiomyopathy. Signs and symptoms of dilated cardiomyopathy can include an irregular heartbeat (arrhythmia), shortness of breath, extreme tiredness (fatigue), and swelling of the legs and feet. These heart problems worsen rapidly and become life-threatening in most cases. Males with Duchenne muscular dystrophy typically live into their twenties, while males with Becker muscular dystrophy can survive into their forties or beyond.

Signs and symptoms of Becker muscular dystrophy

The symptoms of Becker muscular dystrophy usually begin in the teens or late twenties. The first symptoms include numbness during exercise and decreased endurance during exercise. The muscles in the hips, thighs, thighs, and shoulders gradually weaken, causing abdominal cramps. Some muscles (contractions) cannot move due to the contraction of the muscle fibers. The progression of BMD is slower and more variable than Duchenne muscular dystrophy but usually requires a wheelchair. The heart muscle is also affected and there is less shortness of breath, fluid build-up in the lungs, and swelling in the legs and lower legs. Dilated cardiomyopathy is the most common cause of death in people with BMD, and most affected people die in their 40s.

About 5-10% of women who carry the DMD gene have some of the symptoms of muscle weakness that progress slowly or not at all. Muscle weakness (uneven) on one side of the body is usually serious. 

Causes of Becker muscular dystrophy

Becker muscular dystrophy is caused by abnormalities (mutations) in the DMD gene that cause the production of the protein dystrophin. Dystrophin is essential for the stability and protection of muscles. The dystrophin protein is lower than normal and does not function normally due to a genetic mutation.

The DMD gene is located on the X chromosome and follows the X-linked recessive inheritance of Becker muscular dystrophy. Women have two X chromosomes, but one of the X chromosomes is “off” and all the genes on that chromosome become inactive. Women with the disease gene on one of their X chromosomes carry the disorder. Carrier females generally show no symptoms of the disorder because it is generally “aborted” on the X chromosome by an abnormal gene. A man has an X chromosome and if he inherits an X chromosome that contains a gene for the disease, he will develop the disease. Men with X-linked disorders pass the disease gene to all of their daughters, who become carriers. Males do not pass the X-linked gene to their offspring because males always pass their Y chromosome to male offspring instead of their X chromosome. Female carriers of an X-linked disorder have a 25% chance of having it. Own carrier daughter in each pregnancy, a 25% chance of having a non-carrier daughter, a 25% chance that a child will become infected, and a 25% chance of giving birth to an unaffected child. 

How does BMD affect the body?

The weakness of the muscles of the legs, trunk, and pelvis is often the first symptom of BMD. It can cause difficulty in running, jumping, and walking at a normal pace. Patients with more severe symptoms may eventually need a wheelchair.

Although most patients with BMD experience muscle atrophy only in skeletal muscle, this condition also affects the heart muscle, as in DMD. Although BMD does not generally affect life expectancy, it can be fatal if cardiac symptoms do not resolve.

Diagnosis of Becker muscular dystrophy

The diagnosis of Becker muscular dystrophy is complicated because it shares many symptoms with other conditions such as Duchenne, girdle muscular dystrophy, and spinal muscular atrophy.

It is challenging to determine whether the weakness arises in the muscles that control these muscles or in the motor neurons (branches of the spinal cord).

The first step is a careful physical exam and a history of signs and symptoms so that the doctor can observe a pattern of progress. Diagnostic tests for Becker muscular dystrophy:

Blood tests: Genetic blood tests reveal a genetic mutation that causes Becker muscular dystrophy. They can also measure the presence of creatine kinase, an enzyme that is formed when muscle tissue breaks down. This substance increases muscular dystrophy and inflammatory conditions.

Muscle biopsy: For children who do not have clinical evidence of Duchenne muscular dystrophy but have not shown one of the more common mutations, a small sample of muscle tissue is examined under a microscope to confirm the diagnosis.

Electromyogram: This test looks for muscle weakness due to the destruction of muscle tissue without damage to the nerves.

Electrocardiogram (ECG or EKG): A test that records the electrical activity of the heart, an ECG shows abnormal rhythms (arrhythmia or dysrhythmia), and detects damage to the heart muscle.

The heart is mainly muscular and therefore it is affected by muscular dystrophy. Becker muscle dystrophy causes cardiomyopathy, which weakens the heart muscle and, if not observed, can lead to cardiac arrest and transplantation.

Treatment for Becker muscular dystrophy

There is currently no cure for Becker muscular dystrophy. A doctor can prescribe a steroid medicine to help people walk as long as possible.

The clinical course of Becker’s muscular dystrophy is variable. Some may need a wheelchair in their 30s; Others can continue to walk with or without a cane for many years.

Becker is a multidisciplinary team of experts with experience treating muscular dystrophy to help address the symptoms:

Physical and occupational rehabilitation specialists can design exercise programs and teach stretching activities to reduce contractions, which are stiff or deformed joints caused by the contraction of muscles and tendons.

Orthopedic surgeons who specialize in muscular dystrophy can treat contractions and scoliosis.

Cardiologists track a patient’s heart function with EKGs and echocardiograms.

Complications and their handling

The weakness can lead to joint contractions and scoliosis, which may require orthopedic or orthopedic treatment.

Complications of instability, for example, constipation and osteoporosis.

Heart problems

The severity of cardiomyopathy and blood circulation may not parallel the severity of the skeletal muscle disease. Atrial and ventricular arrhythmias can be fatal. The degree of hypoventilation and lung dysfunction also affects cardiac function in muscular dystrophy.

Dilated cardiomyopathy:

It occurs in the majority of patients with BMD. This is an important factor that affects survival.

If the muscle weakness is mild, it can be a manifestation symptom. The severity of cardiac involvement is not related to the severity of skeletal muscle weakness.

Asymptomatic (subclinical) cardiomyopathy is common.

Symptoms can be specific, for example, fatigue, lack of sleep, weight loss, vomiting.

Arrhythmia.

Follow-up and treatment

Regular cardiac monitoring from diagnosis / 10 years of age, including:

  • Clinical evaluation.
  • Electrocardiogram (ECG) and echocardiogram – These are difficult to understand due to scoliosis.
  • Other tests: Cardiac magnetic resonance imaging, multiple acquisition study (MUGA), and tissue Doppler echocardiography may be more helpful than standard echocardiography.
  • Treatment consists of standardized rules, for example, angiotensin-converting enzyme (ACE) inhibitors, beta-blockers, and diuretics for heart failure.
  • Consider the use of anticoagulants as it increases the risk of thromboembolism.
  • Nutritional and respiratory function should be optimized.
  • Some patients require a heart transplant.
  • Intoxication problems
  • Malignant rhabdomyolysis (malignant hyperthermia-like reaction) to certain narcotic agents.
  • Hyperkalemia in response to succinylcholine.
  • The risk of heart disease is high.
  • Careful evaluation and monitoring are required with any anesthesia or surgical procedure.

Other issues

Respiratory muscle weakness:

Depending on the clinical severity of the muscle weakness, this is a possible problem. The management of DMD is similar to respiratory problems. See the article on specific Duchenne muscular dystrophy.

Pain in the lower back, spine, and legs.