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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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Tree Number(s): C10., 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

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