Authored by MCN Neurologists

Huntington’s disease (HD) is an incurable genetic disease that causes specific brain cells (neurons) to degenerate slowly.  It usually begins during middle age years with the very gradual appearance of difficulty coordinating limb movements and walking, along with abnormal, involuntary writhing or dancing-like movements of the arms or legs called “chorea.”  As HD progresses, there is also decline in mental abilities and the appearance of behavioral and psychiatric problems.  Although the disorder itself is not fatal, it is severely disabling.  Complications from the disability include infections, like pneumonia as well as physical injury from fall, and these complications reduce life expectancy to about 20 years after symptoms begin.  HD is genetic and 50% of the children of an affected individual will inherit the gene that causes HD.

Symptoms

Neurological symptoms include chorea, stiffness of the limbs, abnormal posturing of the limbs, lack of coordination, abnormal eye movements, unstable walking, difficulty speaking and difficulty chewing and swallowing food.  Seizures and sleep disruption are also sometimes seen.  Mental symptoms include loss of memory, planning abilities, abstract thinking and judgment skills.  Behavioral and psychiatric symptoms include anxiety, depression, aggression and compulsive behaviors that can include gambling and other addictions.  Other physical symptoms include muscle weakness, heart failure, impaired glucose tolerance, weight loss, osteoporosis and testicular atrophy.

Examination and Tests

Diagnosis of HD can be made by evaluating the specific symptoms as they appear, as well as by ruling out other conditions that can appear similar to HD, such as  drug effects, toxicities like Wilson’s disease (abnormal copper accumulation), other forms of inherited movements disorders, multiple sclerosis, lupus and thyroid disease.  A brain MRI is often helpful in ruling out other diseases. 

Genetic testing is available but may not be necessary for a patient with the typical symptoms and a genetically proven family history of HD.  In the absence of a family history of HD, a patient with typical symptoms should undergo genetic testing.  Those persons with a family history of HD, who have NO typical symptoms, should undergo extensive genetic counseling given the implications of receiving a positive or negative result for an incurable, disabling genetic disease.

Treatment

Treatment is aimed at working to control the symptoms for as long as possible using both medication and non-medication methods.  Consultations with a family doctor, neurologist, psychiatrist and a genetic counselor are a part of a comprehensive treatment plan.  Medications can include movement control medicines (e.g. tetrabenzine, clonazepam, and valproic acid), antidepressants and antipsychotics.  Therapy can include evaluation and treatment by physical, occupational and speech/swallowing therapists.

For further information about Huntington’s disease, click on the following link:

www.emedicinehealth.com/huntington_disease_dementia/article_em.htm (WebMD, Inc.)

January 1, 2010

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