title: Stiff child syndrome with mutation of DYT1 gene.
abstract: The authors report a Chinese boy with a DYT1 gene mutation having muscle stiffness, severe painful muscle spasm, myoclonus, and dystonia compatible with stiff child syndrome. Autoantibodies to glutamic acid decarboxylase (anti-GAD) were absent. His asymptomatic mother had a DYT1 mutation. His asymptomatic sister has diabetes mellitus and antibodies to glutamic acid decarboxylase but no DYT1 mutation.
authors.affiliation: Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Queen Mary Hospital, Hong Kong, China. vcnwong@hkucc.hku.hk
authors.forename: Virginia C N
authors.initials: VC
authors.lastname: Wong
authors.forename: Ching-Wan
authors.initials: CW
authors.lastname: Lam
authors.forename: Cheuk Wing
authors.initials: CW
authors.lastname: Fung
mesh_terms: D044466:Asian People; D001323:Autoantibodies / Q000235:genetics / Q000276:immunology; D002648:Child; D004252:DNA Mutational Analysis; D018450:Disease Progression; D004421:Dystonia / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D018755:GABA Agonists / Q000627:therapeutic use; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D005968:Glutamate Decarboxylase / Q000276:immunology; D006579:Heterozygote; D006723:Hong Kong; D006801:Humans; D008297:Male; D018832:Molecular Chaperones / Q000235:genetics*; D009128:Muscle Spasticity / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000294:innervation / Q000503:physiopathology*; D009154:Mutation / Q000235:genetics*; D010956:Plasmapheresis; D016750:Stiff-Person Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology*; D016896:Treatment Outcome; D005680:gamma-Aminobutyric Acid / Q000378:metabolism
chemical_list: D001323:Autoantibodies; D018755:GABA Agonists; D018832:Molecular Chaperones; C108175:TOR1A protein, human; D005680:gamma-Aminobutyric Acid; D005968:Glutamate Decarboxylase