Clinical features of Friedreich's ataxia: classical and atypical phenotypes.

  title={Clinical features of Friedreich's ataxia: classical and atypical phenotypes.},
  author={Michael H. Parkinson and Sylvia M. Boesch and Wolfgang Nachbauer and Caterina Mariotti and Paola Giunti},
  journal={Journal of neurochemistry},
  volume={126 Suppl 1},
One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative ataxic syndrome which bears his name, his description remains at the core of the classical clinical phenotype of gait and limb ataxia, poor balance and coordination, leg weakness, sensory loss, areflexia, impaired walking, dysarthria, dysphagia, eye movement abnormalities, scoliosis, foot deformities, cardiomyopathy and diabetes. Onset is typically around puberty with slow progression and shortened… CONTINUE READING
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