Friedreich Ataxia

Synonyms

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

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)