ataxia-telangiectasia
Pronunciation: uh-TAK-see-uh tel-an-jee-ek-TAY-zee-uh
A rare genetic disorder combining progressive neurodegeneration with immunodeficiency and increased cancer susceptibility.
Full Definition
Ataxia-telangiectasia (A-T) is an autosomal recessive disorder caused by mutations in the ATM gene, affecting DNA repair mechanisms. The condition is characterized by progressive cerebellar ataxia beginning in early childhood, oculocutaneous telangiectasias, immunodeficiency (particularly affecting T-cells and humoral immunity), and a dramatically increased risk of malignancy. Children typically present with developmental delays, recurrent respiratory infections, and distinctive neurological symptoms including difficulty with coordination and balance. There is no cure, and management focuses on supportive care and infection prevention.
Usage
Usage note: Always hyphenate; abbreviated as 'A-T' in clinical contexts.
In Context
- "The child's progressive ataxia and recurrent infections led to genetic testing confirming ataxia-telangiectasia." — Diagnostic workup summary
- "Patients with ataxia-telangiectasia require careful monitoring for malignancy development." — Follow-up care protocol