Huntington's Chorea

Huntington's disease

What is Huntington's chorea?

Huntington's chorea is a disease characterized by jerky, involuntary movements and mental deterioration, both intellectual and emotional. It begins in mid-life (average age 37) and usually progresses to death within 15 to 25 years. It is an uncommon disease, occurring in less than one per 10,000 people. It has a strong hereditary component. Each child of a parent with Huntington's chorea has a 50% chance of developing the disease.

How is it diagnosed?

History usually reveals a strong family history of the disease. Forgetfulness and minor clumsiness are common early symptoms. Changes in mood, personality, and intellectual functioning are usually seen before the involuntary movements are noticed. Mental deterioration is usually accompanied by moodiness, irritability, or antisocial behavior. Depression is common; suicide is a risk, while intellectual function is still intact. The person might develop delusions or a frank psychosis.

The symptoms will worsen. Intellectual deterioration and jerky movements of the extremities and face will evolve. Individuals eventually lose the ability to care for themselves as they become unable to walk and function intellectually.

Physical exam: Initially, periodic twitching in the face or extremities is seen; these movements will become more pronounced and frequent as the disease progresses. Walking becomes unsteady. Later, more generalized and sustained writhing motions are seen, with the muscles becoming more rigid. Speech becomes hard to understand, and swallowing becomes difficult.

Tests: Genetic testing is very specific for Huntington's disease. CT scan of the brain shows atrophy of the cerebral cortex and basal ganglia in later stages.

How is Huntington's chorea treated?

The only treatment is for the symptoms of Huntington's chorea, not for the disease itself. Abnormal movements and mental disturbances may be controlled by a phenothiazine or other drugs that block dopamine receptors (dopamine blockers), but the side effects of this class of drugs are troublesome in themselves.

Genetic counseling should be offered to the children of parent(s) who have Huntington's chorea. DNA testing will determine whether or not the offspring also carry the affected gene, and are at risk of developing the disease and/or passing the risk to their children.

Medications

Information Brand Generic Label Rating
Sertraline Zoloft Sertraline Off-Label
Lioresal Lioresal Baclofen Off-Label

Pamelor (Nortriptyline), Prozac (Fluoxetine), Zyprexa (Olanzapine), Klonopin (Clonazepam), Geodon (Ziprasidone), Symmetrel (Amantadine)

Predicted outcome

The prognosis is poor. Most individuals become unable to care for themselves and require institutionalization at the end stage of the disease. Death usually comes after ten to twenty years from pneumonia or heart failure.

Alternatives

Other possibilities are benign familial chorea, a stroke involving the basal ganglia, and Wilson's disease.

Appropriate specialists

Neurologist, physiatrist, psychiatrist, and medical geneticist.

Last updated 16 December 2011


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