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