Ataxia-telangiectasia
Ataxia-telangiectasia
Ataxia-telangiectasia (pronounced: a-tax-ee-a tel-an-gee-ek-tay-zee-a), also known as A-T or Louis–Bar syndrome, is a rare, neurodegenerative, autosomal recessive disease causing severe disability.
Etymology
The term "Ataxia" originates from the Greek word "a-taxis", meaning "without order", referring to the lack of voluntary coordination of muscle movements. "Telangiectasia" refers to the visible dilation of small blood vessels, and is derived from the Greek words "telos" (end), "angeion" (vessel), and "ektasis" (dilation).
Symptoms
Symptoms of Ataxia-telangiectasia include ataxia, telangiectasia, immunodeficiency, and a higher than average risk of developing cancer, particularly leukemia and lymphoma.
Causes
Ataxia-telangiectasia is caused by a mutation in the ATM gene, which is involved in cell cycle control. This results in cells' inability to repair DNA damage, leading to cell death, particularly in the nervous system and immune system.
Diagnosis
Diagnosis of Ataxia-telangiectasia is typically 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 supportive and aimed at managing symptoms and improving quality of life. This may include physical therapy, speech therapy, and treatment for infections and other complications.
Related Terms
External links
- Medical encyclopedia article on Ataxia-telangiectasia
- Wikipedia's article - Ataxia-telangiectasia
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