Ataxia telangiectasia

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Ataxia Telangiectasia

Ataxia Telangiectasia (pronounced: a-tax-ee-a tel-an-gee-ek-tay-zee-a), often referred to as A-T, is a rare, neurodegenerative, autosomal recessive disease causing severe disability.

Etymology

The term "Ataxia Telangiectasia" is derived from two Greek words: "Ataxia" meaning lack of order, and "Telangiectasia" referring to dilated blood vessels.

Definition

Ataxia Telangiectasia is characterized by progressive difficulty with coordinating movements (Ataxia) beginning in early childhood, usually before the age of 5. The term "Telangiectasia" refers to the appearance of tiny, red "spider" veins (Telangiectasias) that appear in the corners of the eyes and on the surface of the skin, particularly in sun-exposed areas.

Symptoms

Symptoms of Ataxia Telangiectasia include problems with movement and balance (Ataxia), dilated blood vessels (Telangiectasias), immune system problems, and an increased risk of cancer. Other symptoms may include delayed development of motor skills, poor balance, and slurred speech.

Causes

Ataxia Telangiectasia is caused by mutations in the ATM gene, which is involved in cell division and DNA repair. This mutation leads to cell death, particularly in the nervous system, leading to the symptoms of the disease.

Diagnosis

Diagnosis of Ataxia Telangiectasia is usually made through a combination of physical examination, medical history, and genetic testing to identify mutations in the ATM gene.

Treatment

There is currently no cure for Ataxia Telangiectasia. Treatment is symptomatic and supportive, and may include physical therapy, speech therapy, and occupational therapy. Medications may be used to manage symptoms such as tremors and involuntary movements.

Prognosis

The prognosis for individuals with Ataxia Telangiectasia varies. The disease progresses slowly, and individuals may become wheelchair-bound by adolescence. Life expectancy is often reduced, with many individuals not living beyond their twenties or thirties.

External links

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