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Friedreich Ataxia MeSH Descriptor Data 2021


MeSH Heading
Friedreich Ataxia
Tree Number(s)
C10.228.140.252.700.150
C10.228.854.787.200
C10.574.500.825.200
C16.320.400.780.200
C18.452.660.300
Unique ID
D005621
RDF Unique Identifier
http://id.nlm.nih.gov/mesh/D005621
Scope Note
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)
Entry Term(s)
Friedreich Disease
Friedreich Familial Ataxia
Friedreich Hereditary Ataxia
Friedreich Hereditary Spinal Ataxia
Friedreich Spinocerebellar Ataxia
Friedreich's Ataxia
Friedreich's Disease
Friedreich's Familial Ataxia
Friedreich's Hereditary Ataxia
Friedreich's Hereditary Spinal Ataxia
Hereditary Spinal Ataxia, Friedreich
Hereditary Spinal Ataxia, Friedreich's
Hereditary Spinal Sclerosis
Sclerosis, Hereditary Spinal
NLM Classification #
WL 390
Public MeSH Note
2000; see FRIEDREICH'S ATAXIA 1966-1999; for FRIEDREICH'S DISEASE see MYOCLONUS 1997-1999
History Note
2000(1966); for FRIEDREICH'S DISEASE use MYOCLONUS 1997-1999
Date Established
2000/01/01
Date of Entry
1999/01/01
Revision Date
2013/07/08
Friedreich Ataxia Preferred
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