Huntington's Disease

Definition:
Huntington's disease (HD) also called Huntington's chorea is a rare inherited disease of the central nervous system characterized by progressive dementia, abnormal posture, and involuntary movements. The typical age of onset is between 30 and 50 years.

Prevalence of Huntington's disease:

Estimated 3-7 per 100,000 people of European ancestry suffer from Huntington disease
(Genetics Home Reference website) Saudi Arabia 773 25,795,938
2

Incidence (annual) of Huntington's disease:

26 annual cases in Victoria 1996 (DHS-VIC)
Saudi Arabia 147 25,795,938
2

WARNING! EXTRAPOLATED STATISTICS ONLY! Not based on data sources from individual countries 2. US Census Bureau, International Data Base, 2004

Etiology:
Huntington's disease (HD) results from genetically programmed degeneration of brain cells, called neurons, in certain areas of the brain. This degeneration causes uncontrolled movements, loss of intellectual faculties, and emotional disturbance. HD is a familial disease, passed from parent to child through a mutation in the normal gene. Each child of an HD parent 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 cannot pass it to subsequent generations. A person who inherits the HD gene will sooner or later develop the disease. Whether one child inherits the gene has no bearing on whether others will or will not inherit the gene.

Signs & Symptoms:

Symptoms usually don't appear until middle age, Some early symptoms of HD are mood swings, depression, irritability or trouble driving, learning new things, remembering a fact, or making a decision. As the disease progresses, concentration on intellectual tasks becomes increasingly difficult and the patient may have difficulty feeding himself or herself and swallowing. 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, helps physicians diagnose HD. Presymptomic testing is available for individuals who are at risk for carrying the HD gene. In 1 to 3 percent of individuals with HD, no family history of HD can be found.

Treatment
There are currently no treatments that can cure Huntington's disease. There are also no treatments that can reverse or slow the advancement of the disease. However, there are some medications that may help to reduce some symptoms, and there are many clinical trials taking place to research a variety of potential treatments. Physicians prescribe a number of medications to help control emotional and movement problems associated with HD. In August 2008 the U.S. Food and Drug Administration approved TETRABENAZINE to treat Huntingtons chorea (the involuntary writhing movements), making it the first drug approved for use in the United States to treat the disease. Most drugs used to treat the symptoms of HD have side effects such as fatigue, restlessness, or hyperexcitability. It is extremely important for people with HD to maintain physical fitness as much as possible, as individuals who exercise and keep active tend to do better than those who do not.

The list of treatments includes the following list. Prenatal chorionic villus sampling Medications Anti-chorea medications Anti-agitation medications Physiotherapy Exercise There is no cure for HD, but there are treatments available to reduce the severity of some of its symptoms Tetrabenazine Benzodiazepines Mirtazapine SSRIs Atypical antipsychotic drugs Physical therapy

Prognosis
At this time, there is no way to stop or reverse the course of HD. Now that the HD gene has been located, investigators are continuing to study the HD gene with an eye toward understanding how it causes disease in the human body.

Huntington's disease in Saudi Arabia:

Over a period of six years, four native Saudi families have been diagnosed with Huntington's disease at KFSH & RC. Patients with sporadic Huntington's disease can transmit their expanded CAG repeat to their offspring, who then will subsequently develop Huntington's disease. So, although the prevalence of Huntington's disease in this country is not known, Saudi Arabia may harbour many more Huntington's patients than previously thought. S.BOHLEGA, D.McLEAN, S.OMER & Z.AL KAWI Department of Medicine, King Faisal University Hospital and Research Centre, J Med Genet 1995; 32:325-328