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FRIEDREICHS FAMILIAL ATAXIA [1 record]
Record 1 - internal organization data 2011-07-19
Record 1, English
Record 1, Subject field(s)
- Nervous System
Record 1, Main entry term, English
- Friedreich's ataxia
1, record 1, English, Friedreich%27s%20ataxia
correct
Record 1, Abbreviations, English
Record 1, Synonyms, English
- Friedreich's disease 1, record 1, English, Friedreich%27s%20disease
correct
- Friedreich disease 2, record 1, English, Friedreich%20disease
correct
- Friedreich's hereditary spinal ataxia 2, record 1, English, Friedreich%27s%20hereditary%20spinal%20ataxia
- Friedreich hereditary spinal ataxia 2, record 1, English, Friedreich%20hereditary%20spinal%20ataxia
- Friedreich familial ataxia 2, record 1, English, Friedreich%20familial%20ataxia
- Friedreich's familial ataxia 2, record 1, English, Friedreich%27s%20familial%20ataxia
- Friedreich hereditary ataxia 2, record 1, English, Friedreich%20hereditary%20ataxia
- Friedreich's hereditary ataxia 2, record 1, English, Friedreich%27s%20hereditary%20ataxia
- Friedreich spinocerebellar ataxia 2, record 1, English, Friedreich%20spinocerebellar%20ataxia
Record 1, Textual support, English
Record number: 1, Textual support number: 1 DEF
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. 2, record 1, English, - Friedreich%27s%20ataxia
Record number: 1, Textual support number: 1 OBS
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. This condition is associated with a mutation of the frataxin gene on chromosome 9, which codes for a mitochondrial protein. 2, record 1, English, - Friedreich%27s%20ataxia
Record 1, French
Record 1, Domaine(s)
- Système nerveux
Record 1, Main entry term, French
- ataxie de Friedreich
1, record 1, French, ataxie%20de%20Friedreich
correct, feminine noun
Record 1, Abbreviations, French
Record 1, Synonyms, French
- maladie de Friedreich 1, record 1, French, maladie%20de%20Friedreich
correct, feminine noun
- ataxie héréditaire 1, record 1, French, ataxie%20h%C3%A9r%C3%A9ditaire
correct, feminine noun
Record 1, Textual support, French
Record number: 1, Textual support number: 1 DEF
Maladie héréditaire, transmise sur un mode autosomique récessif, causée par une dégénérescence spinocérébelleuse (atteinte des voies allant du cervelet à la moelle épinière). D'évolution progressive, elle comporte trois syndromes (radiculocordonal postérieur, cérébelleux et pyramidal). Elle est essentiellement caractérisée par des troubles de la marche et de l'équilibre, l'incoordination des membres supérieurs, l'élocution difficile, la faiblesse musculaire. 1, record 1, French, - ataxie%20de%20Friedreich
Record 1, Spanish
Record 1, Textual support, Spanish
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