Preferred Label : Friedreich ataxia;
Definition : 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) [MeSH];
UMLS CUI (RADLEX) : C0016719;
Origin ID : RID5152;
UMLS CUI : C0016719;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- Semantic type(s)
- UMLS correspondences (same concept)
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) [MeSH]
