Friedreich Ataxia
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)
Year introduced: 2000(1966)
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Subheadings:
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
MeSH Unique ID: D005621
Entry Terms:
- Ataxia, Friedreich
- Ataxias, Friedreich
- Friedreich Ataxias
- Friedreich Disease
- Disease, Friedreich
- Friedreich Familial Ataxia
- Ataxia, Friedreich Familial
- Familial Ataxia, Friedreich
- Friedreich Hereditary Ataxia
- Ataxia, Friedreich Hereditary
- Hereditary Ataxia, Friedreich
- Friedreich Hereditary Spinal Ataxia
- Friedreich Spinocerebellar Ataxia
- Ataxia, Friedreich Spinocerebellar
- Spinocerebellar Ataxia, Friedreich
- Friedreich's Ataxia
- Ataxia, Friedreich's
- Friedreich's Disease
- Disease, Friedreich's
- Friedreich's Familial Ataxia
- Ataxia, Friedreich's Familial
- Familial Ataxia, Friedreich's
- Friedreichs Familial Ataxia
- Friedreich's Hereditary Ataxia
- Ataxia, Friedreich's Hereditary
- Ataxias, Friedreich's Hereditary
- Friedreichs Hereditary Ataxia
- Friedreich's Hereditary Ataxias
- Hereditary Ataxia, Friedreich's
- Hereditary Ataxias, Friedreich's
- Friedreich's Hereditary Spinal Ataxia
- Hereditary Spinal Ataxia, Friedreich
- Hereditary Spinal Ataxia, Friedreich's
- Hereditary Spinal Sclerosis
- Hereditary Spinal Scleroses
- Scleroses, Hereditary Spinal
- Spinal Scleroses, Hereditary
- Spinal Sclerosis, Hereditary
- Sclerosis, Hereditary Spinal