Hereditary Spinal Ataxia, Friedreich

Friedreich's Familial Ataxia

Friedreich's Hereditary Spinal Ataxia

Friedreich's Ataxia

Friedreich's Hereditary Ataxia

Friedreich Ataxia

Friedreich's Disease

Sclerosis, Hereditary Spinal

Friedreich Hereditary Spinal Ataxia

Friedreich Familial Ataxia

Friedreich Spinocerebellar Ataxia

Friedreich Hereditary Ataxia

Hereditary Spinal Ataxia, Friedreich's

Hereditary Spinal Sclerosis

Friedreich Disease

C0016719

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)

D005621

Friedreich Ataxia

M0008844

DISEASE_KIND

N0000001292

N0000001292

Friedreich Ataxia [Disease/Finding]

10394003

T047