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Friedreichova ataxia
Record number d005621 Date 06.06.2025 Type M - MESH Topical term Friedreichova ataxia Other term English (Pseudonym) Friedreich Disease
English (Pseudonym) Hereditary Spinal Sclerosis
English (Pseudonym) Sclerosis, Hereditary Spinal
Slovak (Pseudonym) Friedreichova choroba
Slovak (Pseudonym) skleróza spinálna dedičná
Slovak (Pseudonym) ataxia spinocerebelárna dedičná
Slovak (Pseudonym) heredoataxia spinalis
UDC C10.228.140.252.700.150C10.228.854.787.200C10.574.500.825.200C16.320.400.780.200C18.452.660.300 Note 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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