Huntington's disease

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Huntington's disease (pronounced: /ˈhʌntɪŋtənz/), also known as HD or Huntington's chorea, is a neurodegenerative genetic disorder that affects muscle coordination and leads to cognitive decline and psychiatric problems. It typically becomes noticeable in mid-adult life, with symptoms often beginning between 30 and 50 years of age.

Etymology

The disease is named after American physician George Huntington, who first described the condition in 1872. The term "chorea" comes from the Greek word χορεία (khoros), meaning "dance", as the quick, uncontrolled movements of the disease can appear dance-like.

Symptoms

Huntington's disease is characterized by uncontrolled movements, cognitive impairments, and emotional disturbances. The most common physical symptoms include chorea, a specific type of involuntary, irregular movement that is not repetitive or rhythmic, but appears to flow from one muscle to the next.

Causes

Huntington's disease is caused by an inherited defect in a single gene. It is an autosomal dominant condition, which means that a person needs only one copy of the defective gene to develop the disorder.

Diagnosis

Diagnosis of Huntington's disease is based on a clinical examination and confirmed through a genetic test. The genetic test can confirm the diagnosis if physical symptoms are present and can also predict onset of the disease in those at risk due to a family history.

Treatment

There is currently no cure for Huntington's disease, and full-time care is required in the later stages of the disease. Treatment focuses on managing symptoms and includes medications for movement problems and mental health conditions, as well as physical, occupational, and speech therapy.

Prognosis

The progression of Huntington's disease varies between individuals. The time from disease emergence to death is often about 10 to 30 years. Juvenile Huntington's disease usually results in death within 10 years after symptoms develop.

See also

External links

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