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
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
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

Below are MeSH descriptors whose meaning is more general than "Friedreich Ataxia".

Below are MeSH descriptors whose meaning is related to "Friedreich Ataxia".

Below are MeSH descriptors whose meaning is more specific than "Friedreich Ataxia".