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Dictionary » Friedreich ataxia
 

Friedreich ataxia

Introduction: Friedreich ataxia

Description of Friedreich ataxia

Friedreich ataxia (medical condition): A progressive inherited neuromuscular disorder involving slow...more »

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Friedreich ataxia:
  »Introduction: Friedreich ataxia
  »Symptoms of Friedreich ataxia

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

Friedreich ataxia: Related Topics

These medical condition or symptom topics may be relevant to medical information for Friedreich ataxia:

Friedreich ataxia: Rare Disease

Office of Rare Diseases (ORD) of the National Institutes of Health (NIH)

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

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 as a Disease

Friedreich ataxia (medical condition): See Friedreich ataxia (disease information).
  »Introduction: Friedreich ataxia
  »Symptoms of Friedreich ataxia

Friedreich ataxia: Related Diseases

Friedreich ataxia: Friedreich ataxia is listed as a type of (or associated with) the following medical conditions in our database:

More information on medical condition: Friedreich ataxia:

Friedreich ataxia: Related Disease Topics

These medical disease topics may be related to Friedreich ataxia:

  • spinocerebellar ataxia
  • multiple systems atrophy
  • spinocerebellar ataxia type I
  • spinocerebllar ataxia type VII

Terms associated with Friedreich ataxia:

Terms Similar to Friedreich ataxia:

Source - NIH

Source - MeSH 2007

Broader terms for Friedreich ataxia

Source - MeSH 2007

Hierarchical classifications of Friedreich ataxia

The following list attempts to classify Friedreich ataxia into categories where each line is subset of the next.

MeSH 2007 Hierarchy:

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

MeSH 2007 Hierarchy

Interesting Medical Articles:

Medical dictionaries:

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