Diseases

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)

National Library of MedicineMedical Subject Headings2026

Structured Summary

Abstract

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)

MeSH Record

Classification

Broader headings

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MeSH Record

Synonyms

39 entry terms
  • 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
  • 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's Hereditary Ataxias
  • Friedreichs Familial Ataxia
  • Friedreichs Hereditary Ataxia
  • Hereditary Ataxia, Friedreich
  • Hereditary Ataxia, Friedreich's
  • Hereditary Ataxias, Friedreich's
  • Hereditary Spinal Scleroses
  • Scleroses, Hereditary Spinal
  • Spinal Scleroses, Hereditary
  • Spinal Sclerosis, Hereditary
  • Spinocerebellar Ataxia, Friedreich

MeSH Record

Aspects Covered

34 allowable subheadings

Indexed with the subheadings blood, cerebrospinal fluid, chemically induced, classification, complications, diagnosis, diagnostic imaging, diet therapy, drug therapy, economics, embryology, enzymology, epidemiology, ethnology, etiology, genetics, history, immunology, metabolism, microbiology, mortality, nursing, parasitology, pathology, physiopathology, prevention & control, psychology, radiotherapy, rehabilitation, surgery, therapy, urine, veterinary, virology.

MeSH Record

History Note

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

MeSH Hierarchy

Tree Numbers

  1. C10w.228w.140w.252.700.150w
  2. C10w.228w.854w.787.200w
  3. C10w.574w.500.825.200w
  4. C16w.320w.400.780.200w
  5. C18.452w.660w.300w

MeSH Record

NLM Classification

WL 390

AMA Style

References

  1. National Library of Medicine. Friedreich Ataxia. Medical Subject Headings (MeSH). 2026. Unique ID D005621. http://id.nlm.nih.gov/mesh/2026/D005621
  2. Friedreich Ataxia. In: Wikipedia. https://en.wikipedia.org/wiki/Friedreich%27s_ataxia
  3. Friedreich Ataxia. In: Wikidata. https://www.wikidata.org/wiki/Q913856