| Descriptor English: | Friedreich Ataxia | ||||||
| Descriptor Spanish: |
Ataxia de Friedreich
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| Descriptor Portuguese: | Ataxia de Friedreich | ||||||
| Descriptor French: | Ataxie de Friedreich | ||||||
| Entry term(s): |
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 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 Ataxias Friedreich's Hereditary Spinal Ataxia Friedreichs Familial Ataxia Friedreichs Hereditary 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 |
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| 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 |
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| RDF Unique Identifier: | https://id.nlm.nih.gov/mesh/D005621 | ||||||
| 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) |
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| Allowable Qualifiers: |
BL blood CF cerebrospinal fluid CI chemically induced CL classification CO complications DG diagnostic imaging DH diet therapy DI diagnosis DT drug therapy EC economics EH ethnology EM embryology EN enzymology EP epidemiology ET etiology GE genetics HI history IM immunology ME metabolism MI microbiology MO mortality NU nursing PA pathology PC prevention & control PP physiopathology PS parasitology PX psychology RH rehabilitation RT radiotherapy SU surgery TH therapy UR urine VE veterinary VI virology |
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| Public MeSH Note: | 2000; see FRIEDREICH'S ATAXIA 1966-1999; for FRIEDREICH'S DISEASE see MYOCLONUS 1997-1999 |
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| History Note: | 2000(1966); for FRIEDREICH'S DISEASE use MYOCLONUS 1997-1999 |
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| DeCS ID: | 22469 | ||||||
| Unique ID: | D005621 | ||||||
| NLM Classification: | WL 390 | ||||||
| Documents indexed in the Virtual Health Library (VHL): | Click here to access the VHL documents | ||||||
| Date Established: | 2000/01/01 | ||||||
| Date of Entry: | 1999/01/01 | ||||||
| Revision Date: | 2013/07/08 |
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Friedreich Ataxia
- Preferred
| Concept UI |
M0008844 |
| 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) |
| Preferred term | Friedreich Ataxia |
| Entry term(s) |
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 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 Ataxias Friedreich's Hereditary Spinal Ataxia Friedreichs Familial Ataxia Friedreichs Hereditary 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 |
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