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Friedreich's ataxia

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First described by Nikolaus Friedreich in a series of five papers published from 1863 to 1877, Friedreich's ataxia is a multisystemic neurodegenerative disorder and the most common of the hereditary ataxia syndromes (1,2).

  • the mode of inheritance is autosomal recessive
  • is the most common form of progressive ataxia in the UK(3)

Extra-neurological involvement includes:

  • hypertrophic cardiomyopathy in most patients
  • diabetes mellitus in 10%

Onset is usually during adolescence.

Reference:

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