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Friedreich ataxia (medical condition): A progressive inherited neuromuscular disorder involving slow...more »
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).
Source: MeSH 2007
These medical condition or symptom topics may be relevant to medical information for Friedreich ataxia:
Friedreich ataxia is listed as a "rare disease" by the Office of
Rare Diseases (ORD) of the National Institutes of Health
(NIH). This means that Friedreich ataxia, or a subtype of Friedreich ataxia,
affects less than 200,000 people in the US population.
Source - National Institutes of Health (NIH)
Ophanet, a consortium of European partners,
currently defines a condition rare when if affects 1 person per 2,000.
They list Friedreich ataxia as a "rare disease".
Source - Orphanet
Friedreich ataxia: Friedreich ataxia is listed as a type of (or associated with) the following medical conditions in our database:
These medical disease topics may be related to Friedreich ataxia:
Source - NIH
Source - MeSH 2007
Source - MeSH 2007
The following list attempts to classify Friedreich ataxia into categories where each line is subset of the next.
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