Stiff child syndrome with mutation of DYT1 gene.
case_report · Level V
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- Record sourced from PubMed, PMID 16275837.
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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.
Medical subject headings
- Genetic Predisposition to Disease
- Molecular Chaperones
- Muscle, Skeletal
- Mutation
- Stiff-Person Syndrome