Annotation
Diagnosing Friedreich's ataxia
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Introduction |
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The condition that now bears his name was first described by
Nicolaus Friedreich in a series of papers between 1863 and 1877. He
noted the onset at around puberty of ataxia and dysarthria; sensory
loss and weakness developed later. The skeletal deformities of pes
cavus and scoliosis were also reported. Over the following generations
there was a tendency to lump the inherited ataxias together, and the
essential features of Friedreich's ataxia became diluted. Clinical
studies in the 1970s and 1980s1 2 and subsequent genetic
studies have helped clarify these features, and Friedreich's ataxia is
now known to be the commonest of the inherited ataxias, accounting for
at least 50% in most large series and affecting approximately one in
50 000 individuals.3 Although at present it is an
incurable and progressive disease, recent identification of the
affected gene has not only provided a highly sensitive and specific
diagnostic test, but has also given useful
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This article has been cited by other articles:
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Maring, J. R, Croarkin, E.
(2007). Presentation and Progression of Friedreich Ataxia and Implications for Physical Therapist Examination. ptjournal
87: 1687-1696
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