MeSH Browser

MeSH Heading: Friedreich Ataxia
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
Unique ID: D005621
RDF Unique Identifier: http://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)
Entry Term(s): 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
NLM Classification #: WL 390
Public MeSH Note: 2000; see FRIEDREICH'S ATAXIA 1966-1999; for FRIEDREICH'S DISEASE see MYOCLONUS 1997-1999
History Note: 2000(1966); for FRIEDREICH'S DISEASE use MYOCLONUS 1997-1999
Date Established: 2000/01/01
Date of Entry: 1999/01/01
Revision Date: 2013/07/08

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Cerebellar Diseases [C10.228.140.252]
      - Spinocerebellar Degenerations [C10.228.140.252.700]
        
        Friedreich Ataxia [C10.228.140.252.700.150]
        
        Myoclonic Cerebellar Dyssynergia [C10.228.140.252.700.250]
        
        Olivopontocerebellar Atrophies [C10.228.140.252.700.650]
        
        Spinocerebellar Ataxias [C10.228.140.252.700.700]

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Spinal Cord Diseases [C10.228.854]
    - Spinocerebellar Degenerations [C10.228.854.787]

Nervous System Diseases [C10]
- Neurodegenerative Diseases [C10.574]
  - Heredodegenerative Disorders, Nervous System [C10.574.500]
    - Spinocerebellar Degenerations [C10.574.500.825]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Heredodegenerative Disorders, Nervous System [C16.320.400]
    - Spinocerebellar Degenerations [C16.320.400.780]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Mitochondrial Diseases [C18.452.660]

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)
Terms: Friedreich Ataxia Preferred Term
Term UI T364819
Date11/05/1999
LexicalTag NON
ThesaurusID; Friedreich Familial Ataxia
Term UI T368108
Date11/05/1999
LexicalTag EPO
ThesaurusID NLM (2000); Friedreich Hereditary Ataxia
Term UI T368109
Date11/05/1999
LexicalTag EPO
ThesaurusID NLM (2000); Friedreich Hereditary Spinal Ataxia
Term UI T368113
Date11/05/1999
LexicalTag EPO
ThesaurusID NLM (2000); Friedreich Spinocerebellar Ataxia
Term UI T368114
Date11/05/1999
LexicalTag EPO
ThesaurusID; Friedreich's Ataxia
Term UI T017014
Date01/01/1999
LexicalTag EPO
ThesaurusID; Friedreich's Disease
Term UI T027458
Date04/16/1996
LexicalTag EPO
ThesaurusID NLM (1997); Friedreich's Familial Ataxia
Term UI T368115
Date11/05/1999
LexicalTag EPO
ThesaurusID NLM (2000); Friedreich's Hereditary Ataxia
Term UI T368116
Date11/05/1999
LexicalTag NON
ThesaurusID NLM (2000); Friedreich's Hereditary Spinal Ataxia
Term UI T373517
Date11/05/1999
LexicalTag EPO
ThesaurusID NLM (2000); Hereditary Spinal Ataxia, Friedreich
Term UI T368118
Date11/05/1999
LexicalTag EPO
ThesaurusID NLM (2000); Hereditary Spinal Ataxia, Friedreich's
Term UI T373518
Date11/05/1999
LexicalTag NON
ThesaurusID NLM (2000); Hereditary Spinal Sclerosis
Term UI T017015
Date03/30/1974
LexicalTag NON
ThesaurusID; Sclerosis, Hereditary Spinal
Term UI T017016
Date03/30/1974
LexicalTag NON
ThesaurusID UNK (19XX); Friedreich Disease
Term UI T027457
Date04/16/1996
LexicalTag EPO
ThesaurusID NLM (1997)

Friedreich Ataxia MeSH Descriptor Data 2023