About The Medical Condition Ataxia, Friedreich Spinocerebellar
Find the definition of the medical term Ataxia, Friedreich Spinocerebellar. Ataxia, Friedreich Spinocerebellar defined and explained for easy understanding at the Medical Conditions from ClusterMed.info.
Ataxia, Friedreich Spinocerebellar
Ataxia, Friedreich Spinocerebellar Medical Condition |
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What's The Definition Of The Medical Condition Ataxia, Friedreich Spinocerebellar?
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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