ABSTRACT

Ataxia-telangiectasia (AT) in a rare, multisystemic autosomal recessive disorder. The core features of the disease are progressive cerebellar ataxia, oculocutaneous telangiectasia, immune deficiency, radiation hypersensitivity and predisposition to malignacy. Except prominent feature, cerebellar ataxia, oculomotor apraxia, choreoathetosis, dystonia and neuromuscular symptoms may be observed. Neuromuscular abnormalities commonly accompanied the disease in later stages. Most involvement types are sensorimotor axonal polyneuropathy and spinal muscular atrophy in neuromuscular system. Here we report an adult AT patient with severe neuromuscular system involvement.