Friedreich Ataxia

**Definition:** 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)

**Tree numbers:** - 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

**Synonyms:** - 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 Spinal Ataxia - Hereditary Spinal Ataxia, Friedreich - Hereditary Spinal Ataxia, Friedreich's - Hereditary Spinal Sclerosis - Sclerosis, Hereditary Spinal