Huntington's Disease

Wesley Cruz

Huntington's Disease

Huntington's disease (HD) is an inherited disorder that causes degeneration of brain cells, called neurons, in motor control regions of the brain, as well as other areas

What Causes This/How Does a Child Acquire it

Huntington’s disease is caused by a mutation in the gene for a protein called huntingtin. Each child of a parent with HD has a 50-50 chance of inheriting the HD gene. If a child does not inherit the HD gene, he or she will not develop the disease and generally cannot pass it to subsequent generations.

Can It Be Prevented?

If an at-risk parent is considering genetic testing, it can be helpful to meet with a genetic counselor. A genetic counselor will discuss the potential risks of a positive test result, which would indicate the parent will develop the disease. Couples could also do things such as prenatal testing for the gene or in vitro fertilization with donor sperm or eggs.

Symptoms and Effects

Symptoms of the disease, which gets progressively worse, include uncontrolled movements (called chorea), abnormal body postures, and changes in behavior, emotion, judgment, and cognition. People with HD also develop impaired coordination, slurred speech, and difficulty feeding and swallowing. HD typically begins between ages 30 and 50.

How Can The Condition be Detected?

A diagnostic genetic test is now available.The test can confirm that the defective gene for huntingtin protein is the cause of symptoms in people with suspected Huntington's disease and can detect the defective gene in people who don't yet have symptoms but are at risk because a parent has Huntington's.

Treatment Options

There is no treatment that can stop or reverse the course of HD. Tetrabenazine is prescribed for treating Huntington’s-associated chorea. Drugs may be prescribed to treat depression and anxiety. Drugs used to treat the symptoms of HD may have side effects such as fatigue, sedation, decreased concentration, restlessness, or hyperexcitability, and should be only used when symptoms create problems for the individual.
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