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Friedreichova ataxia
SYS d005621 LBL 00000cz--a2200000o--4500 005 20250606214500.3 008 990101|||anznnbabn-----------|-a|a------ 040 $b slo $a DNLM $d BA006 065 $a C10.228.140.252.700.150 065 $a C10.228.854.787.200 065 $a C10.574.500.825.200 065 $a C16.320.400.780.200 065 $a C18.452.660.300 066 $a 01 $c 03 150 $a Friedreichova ataxia $x BL $x CF $x CI $x CL $x CO $x DG $x DH $x DI $x DT $x EC $x EH $x EM $x EN $x EP $x ET $x GE $x HI $x IM $x ME $x MI $x MO $x NU $x PA $x PC $x PP $x PS $x PX $x RH $x RT $x SU $x TH $x UR $x VE $x VI $2 slo 450 $w v $a Friedreich Disease $2 eng 450 $w v $a Hereditary Spinal Sclerosis $2 eng 450 $w v $a Sclerosis, Hereditary Spinal $2 eng 450 $w v $a Friedreichova choroba $2 slo 450 $w v $a skleróza spinálna dedičná $2 slo 450 $w v $a ataxia spinocerebelárna dedičná $2 slo 450 $w v $a heredoataxia spinalis $2 slo 665 $a 2000(1966); for FRIEDREICH'S DISEASE use MYOCLONUS 1997-1999 $2 eng 680 9-
$i 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) $2 eng 750 -2
$a Friedreich Ataxia $2 eng 980 $x M
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