Number of the records: 1
Friedreichova ataxia
SYS d005621 LBL 00000cx--j22000003--45-- 005 20240119195650.3 100 $a 19990101csloy0103----ba0 152 $b mesh 250 $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 $8 slo 300 1-
$a 2000(1966); for FRIEDREICH'S DISEASE use MYOCLONUS 1997-1999 $8 eng 330 1-
$a 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) $8 eng 450 $a Friedreich Disease $5 e $8 eng 450 $a Hereditary Spinal Sclerosis $5 e $8 eng 450 $a Sclerosis, Hereditary Spinal $5 e $8 eng 450 $a Friedreichova choroba $5 e $8 slo 450 $a skleróza spinálna dedičná $5 e $8 slo 450 $a ataxia spinocerebelárna dedičná $5 e $8 slo 450 $a heredoataxia spinalis $5 e $8 slo 686 $a C10.228.140.252.700.150 686 $a C10.228.854.787.200 686 $a C10.574.500.825.200 686 $a C16.320.400.780.200 686 $a C18.452.660.300 750 $a Friedreich Ataxia $8 eng 801 -0
$a US $b DNLM $c 19990101 801 -2
$a SK $b BA006 $c 20070319 980 $x M
Number of the records: 1