Huntington's Disease

Description

Huntington's disease (HD) is a hereditary progressive neurodegenerative disorder characterized by the development of emotional, behavioral, and psychiatric abnormalities; loss of previously acquired intellectual or cognitive functioning; and movement abnormalities (motor disturbances). Also known as Huntington's chorea, the disorder is named for the American physician who initially described the condition in 1872.

The classic signs of HD include the development of chorea–or involuntary, rapid, irregular, jerky movements that may affect the face, arms, legs, or trunk–as well as the gradual loss of thought processing and acquired intellectual abilities (dementia). There may be impairment of memory, abstract thinking, and judgment; improper perceptions of time, place, or identity (disorientation); increased agitation; and personality changes (personality disintegration). Although symptoms typically become evident during the fourth or fifth decades of life, the age at onset is variable and ranges from early childhood to late adulthood (e.g., 70s or 80s).

HD is transmitted within families as an autosomal dominant trait. The disorder occurs as the result of abnormally long sequences or "repeats" of coded instructions within a gene on chromosome 4 (4p16.3). The progressive loss of nervous system function associated with HD results from loss of neurons in certain areas of the brain, including the basal ganglia and cerebral cortex.

Please see the following topics related to Huntington's disease below, and available on the left side of this page.

• Symptoms, Findings, and Clinical Course of Huntington's Disease
• Neurobehavioral Changes
• Cognitive Decline
• Motor Disturbances
• Advanced Disease
• Juvenile HD
• Epidemiology
• Causes/Genetics
• Pathophysiology
• Mutant Huntingtin Protein and Intracellular Abnormalities
• Diagnosis
• Genetic Testing for Huntington's Disease
• Genetic Testing: family-based linkage studies
• Implications of Predictive Testing
• Predictive Testing in Children
• Prenatal Testing
• Clinical Evaluation
• Differential Diagnosis
• Treatment
• Medical Management
• Investigational Treatments
• Supportive Management
• Additional Resources
• References

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Huntington's Disease Patient Fact Sheets	Anatomical Illustrations