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Congenital, Hereditary, and Neonatal Diseases and Abnormalities > Genetic Diseases, Inborn > Heredodegenerative Disorders, Nervous System > Spinocerebellar Degenerations > Friedreich Ataxia
Nervous System Diseases > Neurodegenerative Diseases > Heredodegenerative Disorders, Nervous System > Spinocerebellar Degenerations > Friedreich Ataxia
Nervous System Diseases > Central Nervous System Diseases > Spinal Cord Diseases > Spinocerebellar Degenerations > Friedreich Ataxia
... > Nervous System Diseases > Central Nervous System Diseases > Brain Diseases > Cerebellar Diseases > Spinocerebellar Degenerations > Friedreich Ataxia
Nutritional and Metabolic Diseases > Metabolic Diseases > Mitochondrial Diseases > Friedreich Ataxia

Preferred term

Friedreich Ataxia  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Ataxia, Friedreich Familial
  • Ataxia, Friedreich Hereditary
  • Ataxia, Friedreich's
  • Ataxia, Friedreich's Familial
  • Ataxia, Friedreich's Hereditary
  • Ataxia, Friedreich Spinocerebellar
  • Ataxias, Friedreich's Hereditary
  • Disease, Friedreich
  • Disease, Friedreich's
  • Familial Ataxia, Friedreich
  • Familial Ataxia, Friedreich's
  • Friedreich Disease
  • Friedreich Familial Ataxia
  • Friedreich Hereditary Ataxia
  • Friedreich Hereditary Spinal Ataxia
  • Friedreich's Ataxia
  • Friedreich's Disease
  • Friedreich's Familial Ataxia
  • Friedreichs Familial Ataxia
  • Friedreich's Hereditary Ataxia
  • Friedreichs Hereditary Ataxia
  • Friedreich's Hereditary Ataxias
  • Friedreich's Hereditary Spinal Ataxia
  • Friedreich Spinocerebellar 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

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)

History note

  • 2000(1966); for FRIEDREICH'S DISEASE use MYOCLONUS 1997-1999

In other languages

  • Friedreichin ataksia

    Finnish

  • ataxia Friedreich
  • ataxia Friedreich autosomica recessiva
  • autosomissa peittyvästi periytyvä Friedreichin ataksia
  • Friedreich
  • Friedreichs ataxi (autosomalt recessiv)
  • Friedreichs ataxi

    Swedish

URI

http://www.yso.fi/onto/mesh/D005621

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