What is Huntington’s disease?
Huntington’s disease is an uncommon hereditary ailment that causes the reformist breakdown (degeneration) of nerve cells in the cerebrum. Huntington’s disease has a significant impact on a person’s functional abilities and usually results in disturbances in movement, thinking (perception), and mental disorders.
Huntington’s disease side effects can show up whenever, however, they regularly first show up when individuals are in their 30s or 40s. If the condition develops before the age of 20, it is called Young Huntington’s disease. When Huntington’s disease develops early, symptoms are somewhat different and the disease may progress faster.
Medicines are available to help manage the symptoms of Huntington’s disease. But treatments cannot prevent the physical, mental, and behavioral deterioration associated with the condition.
Symptoms of Huntington’s disease
Symptoms usually begin around the age of 30 to 50 years, but they can start much earlier or much later.
Symptoms may include Huntington’s disease:
- Difficulty with concentration and memory
- Tripping and Breaching
- Involuntary jerking or restless movements of the limbs and body
- Mood swings and personality changes
- Problems with swallowing, speaking and breathing
- Difficulty moving
Full-time nursing care is needed in the later stages of the condition. It is usually fatal about 15 to 20 years after symptoms begin.
Causes of Huntington’s disease
A single gene defect causes Huntington’s disease. It is considered an autosomal dominant disorder. This means that one copy of the abnormal gene is sufficient to cause the disease. If one of your parents had this genetic defect, you have a 50 percent chance of inheriting it. You can likewise give it to your children.
The genetic mutation responsible for Huntington’s disease differs from many of the other mutations. There is no substitute or missing section in the gene. Instead, there is a transcription error. A region within a gene is replicated multiple times. The number of duplicates tends to increase with each generation.
In general, symptoms of Huntington’s disease appear early in people who have a higher number of recurrences. The disease also progresses faster as more recurrences accumulate.
Not being able to do things that were easy before can lead to frustration and depression. Weight loss can worsen symptoms and weaken a patient’s immune system, making them more vulnerable to infections and other complications. HD itself is not usually fatal, but it can be choking, pneumonia, or other infection. At all stages, it is important to adjust the patient’s diet to ensure adequate food intake.
How is Huntington’s disease diagnosed?
Family history plays a major role in diagnosing Huntington’s disease. However, a variety of clinical and laboratory tests may be done to help diagnose the problem.
The neurologist will perform tests to verify:
- Muscle strength
- Sense of touch
- He heard
Brain function and imaging tests
If you’ve had epileptic seizures, you may need an electroencephalogram (EEG). This test gauges the electrical action in your mind.
Brain imaging tests may also be used to detect physical changes in your brain.
- MRI scans use magnetic fields to record images of the brain with a high level of detail.
- Computerized tomography (CT) scans combine several X-rays to produce a cross-section of your brain.
Your doctor may ask you to undergo a psychological evaluation. This evaluation checks your coping skills, emotional state, and behavior patterns. The psychiatrist will likewise search for indications of impaired thinking.
You may be tested for drug use to see if the drugs could explain your symptoms.
If you have multiple symptoms associated with Huntington’s disease, your doctor may recommend a genetic test. A genetic test can definitively diagnose this condition.
Genetic testing may also help you determine whether or not you have children. A few people with Huntington’s disease would prefer not to hazard passing the blemished quality onto the people to come.
Huntington’s disease treatment
HD is currently incurable. There is no treatment that can reverse or slow its progress. However, some symptoms can be controlled with medications and treatments.
Tetrabenazine (Xenazine) is approved by the Food and Drug Administration (FDA) to treat the jerky or involuntary movements or dance associated with HD.
Side effects consider depression & suicidal thoughts or actions.
- Feeling sad and crying
- Loss of enthusiasm for friends and previously enjoyable activities
- Sleeping much than expected and feeling tired
- Feelings of guilt or insignificance
- Feeling more nervous, angry, or anxious than before
- Eat less than usual, possibly with weight loss
- Difficulty concentrating
- Thinking about harming oneself or ending one’s life
Any of these symptoms or any other mood changes should be reported to the doctor immediately. Anyone with a diagnosis of depression, especially with suicidal thoughts, should not use tetrabenazine.
They may include drugs that control movements, seizures, and hallucinations:
- Clonazepam (Klonopin)
- Clozapine (Clorazil)
These medications may cause sedation as well as stiffness and stiffness.
For depression and some of the obsessive-compulsive features that can appear with HD, a doctor may prescribe:
- Fluoxetine (Prozac, Sarafem)
- Nortriptyline (Pamelor)
- Sertraline (Zoloft)
Lithium might help treat intense emotions and mood swings.
Speech therapy can help patients find ways to express words and phrases and communicate more effectively.
Physical and occupational therapy
A physical therapist can help improve muscle strength and flexibility, leading to better balance and a reduced risk of falls.
An occupational therapist can help the patient develop strategies to deal with concentration and memory problems, as well as make the home safer.
What is the long-term outlook for Huntington’s disease?
There is no way to prevent this disease from progressing. The rate of progression varies for each person and depends on the number of genetic repeats present in your genes. A lower number normally implies that the infection will advance all the more gradually.
People with Huntington’s disease usually live 15 to 20 years after symptoms begin. The beginning stage structure by and large advances at a quicker rate. People may only live for 10 to 15 years after symptoms appear.
Causes of death include those with Huntington’s disease:
- Infections, such as pneumonia
- Fall injuries
- Complications of inability to swallow
Is Huntington’s disease Prevented?
People with a known family history of Huntington’s disease are understandably concerned about whether they might pass the Huntington gene to their children. These individuals may think about hereditary testing and family arranging choices.
If an at-risk parent is considering genetic testing, it may be helpful to meet with a genetic counselor. The genetic counselor will discuss the potential risks of a positive test result, which would indicate that the parent will develop the disease. Also, couples will need to make additional choices about having children or consider alternatives, such as prenatal testing for the gene or in vitro fertilization with donor sperm or eggs.
Another option for couples is IVF and preimplantation genetic diagnosis. In this process, eggs are removed from the ovary and fertilized with the father’s sperm in the laboratory. Embryos are tested for the presence of the Huntington gene, and only those that test negative for the Huntington gene are implanted in the mother’s womb.