Huntington's Disease

Home » Huntington's Disease » Overview, Incidence and Prevalence, Causes and Risk Factors

Overview

Huntington's disease (HD) is a fatal hereditary disease that destroys neurons in areas of the brain involved in the emotions, intellect, and movement. The course of Huntington's is characterized by jerking uncontrollable movement of the limbs, trunk, and face (chorea); progressive loss of mental abilities; and the development of psychiatric problems.

Huntington's disease progresses without remission over 10 to 25 years and patients ultimately are unable to care for themselves. Huntington's disease usually appears in middle age (30-50 years), but can develop in younger and older people.

Juvenile HD (also called Westphal variant or akinetic-rigid HD) develops before the age of 20, progresses rapidly, and produces muscle rigidity in which the patient moves little, if at all (akinesia).

Autosomal Dominant Inheritance
In autosomal dominant inherited disease, a single abnormal allele is inherited from one parent. Alleles are the pairs of genes that determine individual characteristics.

Any child, male or female, with one affected parent has a 50% chance of inheriting Huntington's disease. The unaffected child of an affected parent cannot transmit the disease to their children because they have not inherited the abnormal gene.

Incidence and Prevalence
Experts estimate that one in every 10,000 persons—nearly 30,000 in the United States—have Huntington's disease. Juvenile Huntington's occurs in approximately 16% of all cases.

Huntington's disease is not prevalent within any particular population. All races and ethnic groups, and both sexes are affected.

Causes and Risk Factors

Having a parent with Huntington's is the risk factor. A child of an affected parent has a 50% chance of inheriting the disease.

The genetic mutation that occurs in gene IT-15, located on chromosome 4, alters the huntington protein, which is present in all human beings, and causes Huntington's disease. How the mutation of gene IT-15 alters the function of the protein is not well understood.

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