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)

Synonyms: Friedreich's Familial Ataxia Ataxia, Friedreich Ataxia, Friedreich Spinocerebellar Familial Ataxia, Friedreich's Hereditary Spinal Ataxia, Friedreich Hereditary Spinal Scleroses Friedreich Ataxias Hereditary Ataxia, Friedreich's Disease, Friedreich Hereditary Spinal Sclerosis Ataxias, Friedreich Friedreich's Hereditary Ataxias Ataxia, Friedreich's Familial Friedreich Hereditary Spinal Ataxia Ataxia, Friedreich's Hereditary Scleroses, Hereditary Spinal Friedreich's Hereditary Ataxia Friedreich Familial Ataxia Ataxia, Friedreich's Hereditary Ataxia, Friedreich Ataxia, Friedreich Familial Spinal Sclerosis, Hereditary Friedreich Disease Friedreichs Familial Ataxia Friedreich's Hereditary Spinal Ataxia Ataxias, Friedreich's Hereditary Familial Ataxia, Friedreich Friedreichs Hereditary Ataxia Spinal Scleroses, Hereditary Ataxia, Friedreich Hereditary Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Sclerosis, Hereditary Spinal Hereditary Ataxias, Friedreich's Friedreich's Disease Friedreich Hereditary Ataxia Hereditary Spinal Ataxia, Friedreich's Friedreich's Ataxia Friedreich Ataxia Disease, Friedreich's