Friedreich's ataxia

First described by Nikolaus Friedreich in a series of five papers published from 1863 to 1877, Friedreich's ataxia is a multi-systemic 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.

References:

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