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Friedreich ataxia

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We were unfortunately unable to download the information for this disease from OMIM.

Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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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

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