"Friedreich Ataxia" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
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)
Descriptor ID |
D005621
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MeSH 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
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Concept/Terms |
Friedreich Ataxia- Friedreich Ataxia
- Ataxia, Friedreich
- Ataxias, Friedreich
- Friedreich Ataxias
- 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
- Friedreich's Hereditary Ataxias
- Friedreichs Hereditary Ataxia
- 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
- Friedreich Disease
- Disease, Friedreich
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Below are MeSH descriptors whose meaning is more general than "Friedreich Ataxia".
Below are MeSH descriptors whose meaning is more specific than "Friedreich Ataxia".
This graph shows the total number of publications written about "Friedreich Ataxia" by people in this website by year, and whether "Friedreich Ataxia" was a major or minor topic of these publications.
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Year | Major Topic | Minor Topic | Total |
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2020 | 1 | 0 | 1 |
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Below are the most recent publications written about "Friedreich Ataxia" by people in Profiles.
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Assessment of Ataxia Rating Scales and Cerebellar Functional Tests: Critique and Recommendations. Mov Disord. 2021 02; 36(2):283-297.