ISSN: 1305-9327

 
 

VOLUME: 14 NUMBER: 3
 
 

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Print version of Medical Journal of Bakirkoy has been stopped as of 2018; the journal continues to be published as e-journal starting with March 2018 issue.

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10 - Ataxia-telangiectasia is not only a movement disorder; neuromuscular abnormalities in an advanced aged ataxia-telangiectasia patient
   
Amber Eker, Muhammed Alshanableh, Pembe Hare Yiğitoğlu
   
  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.
   
  Keywords
  Ataxia-telangiectasia, neuromuscular, adult
   
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