Ataxia–telangiectasia

Ataxia–telangiectasia is an autosomal recessive disorder caused by mutations in the ATM gene, resulting in defective DNA repair and neurodegeneration. Clinical hallmarks include progressive cerebellar ataxia, oculocutaneous telangiectasias, immunodeficiency, and increased cancer susceptibility. Neurological deterioration typically begins in early childhood, with gait abnormalities preceding fine motor impairment. Diagnosis relies on clinical criteria, elevated alpha-fetoprotein levels, immunologic evaluation, and genetic testing. Management is supportive, focusing on physiotherapy, infection prevention, and surveillance for malignancy; prognosis is poor due to progressive neurodegeneration and immunologic complications.