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.
- (1)Delatycki MB, Corben LA. Clinical Features of Friedreich Ataxia. Journal of child neurology. 2012;27(9):1133-1137
- (2) Gibilisco P, Vogel AP. Friedreich ataxia. BMJ. 2013;347:f7062
- (3) Box H, Bonney H, Greenfield J. The patient's journey: the progressive ataxias. BMJ. 2005;331(7523):1007-9
Last reviewed 09/2021