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Descriptor English:   Friedreich Ataxia 
Descriptor Spanish:   Ataxia de Friedreich 
Descriptor Portuguese:   Ataxia de Friedreich 
Synonyms English:   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  
Tree Number:   C10.
Definition English:   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) 
History Note English:   2000(1966); for FRIEDREICH'S DISEASE use MYOCLONUS 1997-1999 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   22469 
Unique Identifier:   D005621 

Occurrence in VHL: