loading...| Preferred Name | RID5152 | |
| Synonyms |
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| ID |
http://radlex.org/RID/RID5152 |
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| Definition |
An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include gait ataxia, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; n engl j med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of gaa repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, n engl j med 1996 Oct 17;335(16):1169-75) [MeSH] |
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| label |
RID5152 |
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| Preferred_name |
Friedreich ataxia |
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| prefixIRI |
RID:RID5152 |
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| prefLabel |
RID5152 |
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| UMLS_ID |
C0016719 |
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| subClassOf |