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Huntington's Disease

Definition


Disease: Huntington's Disease Huntington's Disease
Category: Neurological diseases
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Disease Definition:

Huntington's disease is an inherited disease that causes certain nerve cells in the brain to waste away. It is a progressive and degenerative disease. A person could experience mental deterioration, uncontrolled movements and emotional disturbances as a result of this disease.

Usually, the signs and symptoms of Huntington disease develop in middle age. Children could develop Huntington's disease only in some rare cases. Younger people with this disease usually have a more severe case and their symptoms could also progress more quickly.

Even though treatments can't prevent the physical and mental decline that is associated with the condition, medications could help manage the signs and symptoms of this disease.

Work Group:


Prepared by: Scientific Section

Symptoms, Causes

Symptoms:

The signs and symptoms of this disease could significantly vary from one person to another. This disease develops slowly and the degree of nerve cell loss determines the severity of signs and symptoms.  Death occurs about 10 to 30 years after signs and symptoms first appear. In younger people, the disease may progress quicker.

Some of the early signs and symptoms of Huntington's disease may include:

 

  • Clumsiness
  • Personality changes, such as depression, anger, a loss of interest and irritability.
  • Involuntary facial movements, including grimacing
  • Mild balance problems
  • Decreased cognitive abilities, including difficulty learning new information, making decisions, remembering important information and answering questions.


These changes may be noticed by the patient's family and friends before he/she notices them.

Some of the later signs and symptoms of this disease may include:

 

  • Jerky, rapid eye movements
  • Sudden jerky, involuntary movements (chorea) throughout the body
  • Dementia
  • Swallowing problems
  • Severe problems with balance and coordination
  • Hesitant, halting or slurred speech


When young people develop Huntington's disease, their signs and symptoms could mimic those of Parkinson's disease, such as:

 

  • Slow movements
  • Muscle rigidity
  • Tremors


In people with early-onset Huntington's disease, seizures could also occur.


In case a person notices any changes in his/her movements, mental ability or emotional control, they should see a doctor. However, these signs and symptoms don't always mean that they have Huntington's disease because they could be the result of many conditions.

A person might want to talk to a doctor about genetic testing in case they have a family history of Huntington's disease. This test can tell someone whether they carry the defective gene or not. Sometimes, the uncertainty of whether they carry the faulty gene or not could be quite stressful and distracting for some people. If a person is not sure that testing is right for them, they should talk to a genetic counselor who could help:

 

  • Weigh the pros and cons
  • Understand the implications of a positive or negative test result
  • Walk them through the testing process

Causes:

A single abnormal gene causes Huntington's disease, which is an inherited condition. Because only one copy of the defective gene, which could be inherited from either parent, is necessary to produce the disease, Huntington's disease is usually referred to as autosomal dominant disorder. The chance of an offspring getting the disease is 50% in case one of the parents has the single faulty gene. Most parents don't know that they carry the gene until they've already had children and possibly passed on the trait, because the signs and symptoms appear first in middle age.

In case a child didn't inherit the faulty gene, he/she won't develop the disease and can't pass it on to the next generation. Anyone who has the gene will ultimately develop Huntington's disease if they live long enough.

In the last few years, it has been discovered that the protein that is expressed by the Huntington's gene interacts with another protein to disturb the way that cholesterol accumulates in the brain. Cholesterol, which needs to be in proper levels and in the proper locations, is essential for healthy brain cells and the network among those brain cells. Cognitive skills, motor skills and speech could be affected in case the network of brain cells is disrupted. A targeted drug therapy could be developed in case scientists figure out a way to disrupt this interaction between the proteins.

Complications

Complications:

After the onset of Huntington's disease, the signs and symptoms continue to death. Over time, vital functions such as swallowing, eating, walking and speaking degenerate, however, these signs and symptoms vary from one person to another. One of the common complications in Huntington's disease is depression, and some people could even be at risk of suicide. A fall, an infection like pneumonia or other complications usually cause death.

Treatments:

There is no available treatment that could stop or reverse Huntington's disease. Eventually, Huntington's disease will cause physical and mental disability despite the fact that some approaches could control the signs and symptoms of the disease. Long-term nursing home care could be necessary as the disease progresses.

MEDICATIONS:
The first medication that has been specifically approved by the FDA for the treatment of the signs and symptoms of Huntington's disease is tetrabenazine. By increasing the amount of dopamine available in the brain, this medication helps reduce the jerky, involuntary movements of Huntington's disease. Restlessness, drowsiness, insomnia and nausea are some of the possible side effects of this medication. People suffering from depression, especially those with suicidal thoughts are not recommended this medication.

To help control movements, violent outbursts and hallucinations, tranquillizers could be used, such as clonazepam and antipsychotic drugs, such as haloperidol and clozapine. Sedation is one of the common side effects of these medications. Although these medications could be helpful in some cases, they could cause additional rigidity and stiffness.

Depression and the obsessive-compulsive rituals that some people with this disease develop could be controlled by various medications, such as sertraline, nortriptyline and fluoxetine. To control extreme emotions and mood swings, lithium could be helpful.

Fatigue, hyperexcitability and restlessness could be some of the side effects of many of the drugs that are used to treat the symptoms of Huntington's disease.

SPEECH THERAPY:
Speech therapy could help with the impairment of speech that occurs with Huntington's disease, affecting the patient's ability to express complex thoughts. In case someone has Huntington's disease, they should ask people to continue talking to them and keep their environment as normal as possible. The patient should also remind their friends and family that the fact that they don't speak doesn't mean that they don't understand what's going on around them.

PHYSICAL AND OCCUPATIONAL THERAPY:
To help maintain balance and lessen the risk of falling, the patient should undergo physical therapy, which could help keep their muscles stronger and more flexible. To make their home safer and develop strategies for coping with memory and concentration problems, they should undergo occupational therapy. Later in the disease, occupational therapy could also assist with eating, dressing and hygiene challenges.

EXPERIMENTAL TREATMENTS AND NEW RESEARCH:
To help slow the course of Huntington's disease, scientists are trying to find new treatments. One research has combined certain cancer and AIDS drugs, which has halted the progression of Huntington's disease in fruit flies.

Stem cells are being used in another research. When stem cells are transplanted in the brain, they may help in reducing some of the damage that has been done to the neurons in the brain. Even though more research is still needed, animal studies have shown promising results.

ACR16 is a medication that stabilizes levels of dopamine, which could improve motor, cognitive and psychiatric functioning, however, this drug is still in clinical trial.

Prognosis:

Not Available

Expert's opinion

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Expert's opinion:

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Clinical Trials:

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