Article
Atypical, perhaps under-recognized? An unusual phenotype of Friedreich ataxia.
Neurogenetics - 1 May 2010
Diehl Beate, Lee Michael S, Reid Janet R, Nielsen Craig D, Natowicz Marvin R
Abstract excerpt
Friedreich ataxia (FRDA) is typically characterized by slowly progressive ataxia, depressed tendon reflexes, dysarthria, pyramidal signs, and loss of position and vibration sense with onset before 25 years. While several atypical forms of FRDA are recognized, profound vision deficit is rare. We d...
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