Huntington's disease
Fatal inherited neurodegenerative disorder with motor, cognitive, and psychiatric symptoms.
Huntington's disease (HD), also known as Huntington's chorea, is a fatal neurodegenerative disease that is usually inherited. It typically presents as a triad of progressive psychiatric, cognitive, and motor symptoms, with chorea—uncoordinated, involuntary 'dance-like' movements—being a hallmark. The disease is caused by a mutation in the huntingtin gene (HTT) involving an expansion of CAG repeats, leading to gradual damage to the basal ganglia region of the brain.
Quick Facts
- Field
- Neurology, Medical Genetics
- Symptoms
- Problems with motor skills including coordination and gait, mood, and mental abilities
- Complications
- Pneumonia, heart disease, physical injury from falls, suicide
- Onset
- 3050 years old
- Duration
- Long term
- Causes
- Genetic (inherited or new mutation)
- Diagnosis
- Genetic testing
- Differential
- Sydenham's chorea, benign hereditary chorea, lupus, paraneoplastic syndrome, Wilson's disease
- Treatment
- Supportive care
- Medication
- Tetrabenazine
- Prognosis
- Invariably fatal, 1520 years from onset of symptoms
- Frequency
- 415 in 100,000 (European descent)
Facts from the source article.
Lore & Background
The earliest known description of Huntington's disease was in 1841 by American physician Charles Oscar Waters, with further detail provided in 1872 by American physician George Huntington. The genetic basis was discovered in 1993 by an international collaborative effort led by the Hereditary Disease Foundation. Research and support organizations began forming in the late 1960s to increase public awareness, provide support, and promote research.
Reader's Guide
Huntington's disease is significant as a model for understanding trinucleotide repeat disorders and autosomal dominant neurodegenerative diseases. Its discovery and characterization have advanced genetic testing and raised ethical debates about testing minors, confidentiality, and disclosure. The disease affects about 4 to 15 in 100,000 people of European descent, with equal incidence in males and females. No cure exists; treatments such as tetrabenazine can relieve some movement symptoms. Complications like pneumonia, heart disease, and falls reduce life expectancy, with suicide accounting for about 9% of deaths. Research directions include determining the exact mechanism, improving animal models, testing medications, and studying stem-cell therapy to replace damaged neurons.
Did You Know?
- About 8% of cases start before age 20 and are known as juvenile HD, which typically presents with slow movement symptoms similar to Parkinson's disease rather than chorea.
- The mutant huntingtin protein is dominant, so having one affected parent is sufficient to trigger the disease in their children.
- Suicide is the cause of death in about 9% of cases of Huntington's disease.
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