Friedreich ataxia

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Description from OMIM

Friedreich ataxia is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty. It is one of the most common forms of autosomal recessive ataxia, occurring in about 1 in 50,000 individuals. Other variable features include visual defects, scoliosis, pes cavus, and cardiomyopathy (review by Delatycki et al., 2000). Pandolfo (2008) provided an overview of Friedreich ataxia, including pathogenesis, mutation mechanisms, and genotype/phenotype correlation. Genetic Heterogeneity of Friedreich Ataxia Another locus for Friedreich ataxia has been mapped to chromosome 9p (FRDA2; 601992).

Prevalence of clinical parameters (%)

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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Ataxia nervous 100 % 8815938 2011-10-18
Neuropathy nervous 98 % 8815938 2011-09-30
Dysarthria nervous 91 % 8815938 2011-09-30
Areflexia nervous 87 % 8815938 2011-09-30
Babinski's sign nervous 79 % 8815938 2011-09-30
Muscle weakness skeletal 67 % 8815938 2011-09-30
Cardiomyopathy circulatory 63 % 8815938 2011-09-30
Scoliosis skeletal 60 % 8815938 2011-09-30
Nystagmus nervous 40 % 8815938 2011-09-30
Dysphagia nervous 27 % 8815938 2011-09-30
Hearing loss nervous 13 % 8815938 2011-09-30

List of references:

Clinical and genetic abnormalities in patients with Friedreich's ataxia.
A Dürr, M Cossee, Y Agid, V Campuzano, C Mignard, C Penet, J L Mandel, A Brice, M Koenig,

Friedreich's ataxia, the most common inherited ataxia, is associated with a mutation that consists of an unstable expansion of GAA repeats in the first intron of the frataxin gene on chromosome 9, which encodes a protein of unknown function.

The New England journal of medicine - Oct 1996