Number of the records: 1
Machadova-Josephova choroba
SYS d017827 LBL 00000cx--j2200000---45-- 005 20240119200209.1 100 $a 19930216asloy0103----ba0 152 $b mesh 250 $a Machadova-Josephova choroba $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 94; was see SPINOCEREBELLAR DEGENERATION 1987-93 $8 eng 300 1-
$a Cerebellar Ataxia (1980-1986) $8 eng 300 1-
$a Spinocerebellar Degeneration (1986-1993) $8 eng 330 1-
$a A dominantly-inherited ATAXIA first described in people of Azorean and Portuguese descent, and subsequently identified in Brazil, Japan, China, and Australia. This disorder is classified as one of the SPINOCEREBELLAR ATAXIAS (Type 3) and has been associated with a mutation of the MJD1 gene on chromosome 14. Clinical features include progressive ataxia, DYSARTHRIA, postural instability, nystagmus, eyelid retraction, and facial FASCICULATIONS. DYSTONIA is prominent in younger patients (referred to as Type I Machado-Joseph Disease). Type II features ataxia and ocular signs; Type III features MUSCULAR ATROPHY and a sensorimotor neuropathy; and Type IV features extrapyramidal signs combined with a sensorimotor neuropathy. (From Clin Neurosci 1995;3(1):17-22; Ann Neurol 1998 Mar;43(3):288-96) $8 eng 450 $a Azorean Disease $5 e $8 eng 450 $a Joseph Disease $5 e $8 eng 450 $a Spinocerebellar Ataxia Type 3 $5 e $8 eng 450 $a Striatonigral Degeneration, Autosomal Dominant $5 e $8 eng 450 $a Josephova choroba $5 e $8 slo 450 $a choroba Azorská $5 e $8 slo 450 $a ataxia spinocerebelárna, typ 3 $5 e $8 slo 450 $a ataxia spinocerebelárna, typ III $5 e $8 slo 450 $a degenerácia striatonigrálna, autozomálne dominantná $5 e $8 slo 450 $a degenerácia striatonigrálna, autozómovo dominantná $5 e $8 slo 686 $a C10.228.140.252.190.530.530 686 $a C10.228.140.252.700.700.500 686 $a C10.228.854.787.875.500 686 $a C10.574.500.825.700.500 686 $a C10.597.350.090.500.530.530 686 $a C16.320.400.780.875.500 750 $a Machado-Joseph Disease $8 eng 801 -0
$a US $b DNLM $c 19930216 801 -2
$a SK $b BA006 $c 20011025 801 -2
$a SK $b BA006 $c 20100428 980 $x M
Number of the records: 1