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DeCS
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Descriptor English:
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Friedreich Ataxia
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Descriptor Spanish:
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Ataxia de Friedreich
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Descriptor Portuguese:
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Ataxia de Friedreich
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Synonyms English:
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Ataxia, Friedreich
Ataxia, Friedreich Familial
Ataxia, Friedreich Hereditary
Ataxia, Friedreich Spinocerebellar
Ataxia, Friedreich's
Ataxia, Friedreich's Familial
Ataxia, Friedreich's Hereditary
Ataxias, Friedreich
Ataxias, Friedreich's Hereditary
Disease, Friedreich
Disease, Friedreich's
Familial Ataxia, Friedreich
Familial Ataxia, Friedreich's
Friedreich Ataxias
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 Ataxias
Friedreich's Hereditary Spinal Ataxia
Friedreichs Familial Ataxia
Friedreichs Hereditary Ataxia
Hereditary Ataxia, Friedreich
Hereditary Ataxia, Friedreich's
Hereditary Ataxias, Friedreich's
Hereditary Spinal Ataxia, Friedreich
Hereditary Spinal Ataxia, Friedreich's
Hereditary Spinal Scleroses
Hereditary Spinal Sclerosis
Scleroses, Hereditary Spinal
Sclerosis, Hereditary Spinal
Spinal Scleroses, Hereditary
Spinal Sclerosis, Hereditary
Spinocerebellar Ataxia, Friedreich
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Tree Number:
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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
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Definition English:
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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) |
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History Note English:
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2000(1966); for FRIEDREICH'S DISEASE use MYOCLONUS 1997-1999
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Allowable Qualifiers English:
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Record Number:
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22469
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Unique Identifier:
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D005621
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Occurrence in VHL:
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Similar:
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DeCS
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