Is Huntington’s Disease?
Huntington’s disease is a hereditary condition in which your
brain’s nerve cells gradually break down. This affects your physical movements,
emotions, and cognitive abilities. There is no cure, but there are ways to cope
with this disease and its symptoms.
Huntington’s disease is much more common in people with European
ancestry, affecting about three to seven out
of every 100,000 people of European descent.
Are the Symptoms of Huntington’s Disease?
There are two types of Huntington’s disease: adult onset and
Adult onset is the most common type of Huntington’s disease.
Symptoms usually begin when people are in their 30s or 40s. Initial signs often
- minor involuntary movements
- poor coordination
- difficulty understanding new information
- trouble making decisions
Symptoms that may occur as the disease progresses include:
- uncontrolled twitching movements, called chorea
- difficulty walking
- trouble swallowing and speaking
- memory loss
- personality changes
- speech changes
- decline in cognitive abilities
This type of Huntington’s disease is less common. Symptoms
usually start to appear in childhood or adolescence. Early-onset Huntington’s
disease causes mental, emotional, and physical changes, such as:
- slurred speech
- slow movements
- frequent falling
- rigid muscles
- sudden decline in school performance
Causes Huntington’s Disease?
A defect in a single gene causes Huntington’s disease. It’s
considered an autosomal dominant disorder. This means that one copy of the
abnormal gene is enough to cause the disease. If one of your parents has this
genetic defect, you have a 50 percent chance of inheriting it. You can also
pass it on to your children.
The genetic mutation responsible for Huntington’s disease is
different from many other mutations. There isn’t a substitution or a missing
section in the gene. Instead, there is a copying error. An area within the gene
is copied too many times. The number of repeated copies tends to increase with
In general, symptoms of Huntington’s disease show up earlier in
people with a larger number of repeats. The disease also progresses faster as
more repeats build up.
Is Huntington’s Disease Diagnosed?
Family history plays a major role in the diagnosis of
Huntington’s disease. However, a variety of clinical and laboratory testing can
be done to assist in diagnosing the problem.
A neurologist will do tests to check your:
- muscle tone
- sense of touch
Brain Function and Imaging Tests
If you’ve had seizures, you may need an electroencephalogram (EEG). This test measures the
electrical activity in your brain.
Brain-imaging tests can also be used to detect physical changes
in your brain.
resonance imaging (MRI) scans use magnetic fields to record brain
images with a high level of detail.
- Computed tomography (CT) scans combine several X-rays to
produce a cross-sectional image of your brain.
Your doctor might ask you to undergo a psychiatric evaluation.
This evaluation checks your coping skills, emotional state, and behavioral
patterns. A psychiatrist will also look for signs of impaired thinking.
You may be tested for substance abuse to see if drugs might
explain your symptoms.
If you have several symptoms associated with Huntington’s
disease, your doctor might recommend genetic testing. A genetic test can
definitively diagnose this condition.
Genetic testing may also help you decide whether or not to have
children. Some people with Huntington’s do not want to risk passing the
defective gene to the next generation.
Are the Treatments for Huntington’s Disease?
Medications can provide relief from some of your physical and
psychiatric symptoms. The types and amounts of drugs needed will change as your
- Involuntary movements may be treated with tetrabenazine
and antipsychotic drugs.
- Muscle rigidity and involuntary muscle
contractions can be treated with diazepam.
- Depression and other psychiatric symptoms can be
treated with antidepressants and mood-stabilizing drugs.
Physical therapy can
help improve your coordination, balance, and flexibility. With this training, your
mobility is improved, and falls may be prevented.
Occupational therapy can
be used to evaluate your daily activities and recommend devices that help with:
- eating and drinking
- getting dressed
Speech therapy may
be able to help you speak clearly. If you can’t speak, you will be taught other
types of communication. Speech therapists can also help with swallowing and
help you work through emotional and mental problems. It can also help you
develop coping skills.
Is the Long-Term Outlook for Huntington’s Disease?
There is no way to stop this disease from progressing. The rate
of progression differs for each person and depends on the number of genetic
repeats present in your genes. A lower number usually means that the disease
will progress more slowly.
People with the adult-onset form of Huntington’s disease usually
live for 15 to 20
years after symptoms begin to appear. The early-onset form generally
progresses at a faster rate. People may live for only 10 to 15 years after the
onset of symptoms.
of death among people with Huntington’s disease include:
such as pneumonia
from being unable to swallow
Can I Cope With Huntington’s Disease?
If you’re having trouble coping with your condition, consider
joining a support group. It can help to meet other people with Huntington’s
disease and share your concerns.
If you need help performing daily tasks or getting around,
contact the health and social services agencies in your area. They might be
able to set up daytime care.
Ask your doctor for advice on the type of care you might begin to
need as your condition progresses. You might have to move into an assisted
living facility or set up in-home nursing care.