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Friedreichova ataxia
Č. záznamu d005621 Dátum 06.06.2025 Typ M - MESH Tematický termín Friedreichova ataxia Iný termín Angličtina (Pseudonym) Friedreich Disease
Angličtina (Pseudonym) Hereditary Spinal Sclerosis
Angličtina (Pseudonym) Sclerosis, Hereditary Spinal
Slovenčina (Pseudonym) Friedreichova choroba
Slovenčina (Pseudonym) skleróza spinálna dedičná
Slovenčina (Pseudonym) ataxia spinocerebelárna dedičná
Slovenčina (Pseudonym) heredoataxia spinalis
MDT C10.228.140.252.700.150C10.228.854.787.200C10.574.500.825.200C16.320.400.780.200C18.452.660.300 Poznámka 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) 
predmetové heslo
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