Huntingtons Disease

Huntington's disease is an inherited condition characterized by abnormal body movements, dementia , and psychiatric problems. Huntington's disease (HD) results from genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. The disorder was documented in 1872 by American physician George Huntington. The name "chorea" comes from the Greek word for "dance" and refers to the incessant quick, jerky, involuntary movements that are characteristic of this condition. The rate of disease progression and the age of onset vary from person to person. A genetic test, coupled with a complete medical history and neurological and laboratory tests, help physician's diagnose HD. Huntington disease is inherited as an autosomal dominant condition and usually appears in middle age (30-50 years), but can develop in younger and older people.

The gene for Huntington disease on the fourth chromosome has been characterized in recent years. The chromosome is composed of genes, and each gene is composed of a string of molecules called nucleotides. The nucleotides are adenine (A), cytosine (C), guanine (G), and thymine (T). An estimated one in 10,000 Americans has Huntington's disease, with about 30,000 known cases in the United States. About 150,000 Americans may be at risk of inheriting Huntington's disease from a parent.

Causes of Huntingtons Disease

You must have inherited the gene to get this disease. HD is caused by a trinucleotide repeat expansion in the Huntingtin gene, and is one of several polyglutamine diseases . Having a parent with Huntington's is the risk factor. A child of an affected parent has a 50% chance of inheriting the disease.

Symptoms of Huntingtons Disease

Early symptoms of Huntington's Disease may affect cognitive ability or mobility and include depression, mood swings, forgetfulness, clumsiness, involuntary twitching and lack of coordination. Symptoms may include involuntary movements and loss of motor control. In addition, personality changes may occur, with loss of memory and decreased mental capacity. Some of the signs and symptoms of HD are listed -

• Irritability
• Depression
• Anxiety
• Aggressive outbursts
• Mood swings
• Social withdrawal
• Motor
• Fidgety behavior
• Uncoordination
• Involuntary movements (chorea, dystonia)
• Difficulties with speech, swallowing, balance, walking

Treatment of Huntingtons Disease

The medication is not 'magic' and certainly does not offer a cure for HD. It does offer an alternative treatment. The drug tetrabenazine has shown some positive effects in the treatment of chorea, for patients with Huntington disease (HD). Botulinum toxin may be injected into overactive muscles to produce a controlled amount of muscle relaxation or weakness. It may be of benefit to some people with HD if focal muscle spasm is problematic. Various medications, including fluoxetine (Prozac, Sarafem), sertraline (Zoloft) and nortriptyline (Aventyl, Pamelor), can help control depression and the obsessive-compulsive rituals that some people with Huntington's disease develop. Medications such as lithium (Eskalith, Lithobid) can help control extreme emotions and mood swings.

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