En autosomal, recessiv, ärftlig sjukdom med debut i barndomen, med degenerativa förändringar i ryggmärgen som typiskt patologiskt tecken. De kliniska yttringarna är ataxi, kraftig hålfot, talsvårigheter, krökt ryggrad (kyfoskolios), huvudskakningar, hjärtsvikt och muskelsvaghet, särskilt i benen. De flesta former av sjukdomstillståndet beror på en mutation i en gen på kromosom 9, vid q13, som kodar för mitokondrieproteinet frataxin.
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)
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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