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Illness finder is a diagnostic medicine tool for educational purpose that looks up your patients' health conditions or symptoms and diagnosis and find diseases or illnesses based on chosen gender, age, risk factors, illness, signs, symptoms and prevalence. Illnessfinder is inspired by Evidence based medicine (EMB) and healthcare that aims to apply the best (most reliable) knowledge that is available at decision time. Illnessfinder aims to free up time for the therapeutic dialogue and ensure quality at the evidence based practice, uniting proven medical findings and clinical evidence with systematised data technology.
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| Friedreich Ataxia | Legal notice |
Other terms
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Description
Friedreich Ataxia: 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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