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.
MeSH terms
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Asian People
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Autoantibodies / genetics
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Autoantibodies / immunology
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Child
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DNA Mutational Analysis
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Disease Progression
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Dystonia / diagnosis
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Dystonia / genetics
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Dystonia / physiopathology
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GABA Agonists / therapeutic use
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Genetic Predisposition to Disease / genetics*
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Genetic Testing
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Glutamate Decarboxylase / immunology
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Heterozygote
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Hong Kong
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Humans
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Male
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Molecular Chaperones / genetics*
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Muscle Spasticity / diagnosis
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Muscle Spasticity / genetics
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Muscle Spasticity / physiopathology
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Muscle, Skeletal / innervation
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Muscle, Skeletal / physiopathology*
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Mutation / genetics*
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Plasmapheresis
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Stiff-Person Syndrome / diagnosis
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Stiff-Person Syndrome / genetics*
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Stiff-Person Syndrome / physiopathology*
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Treatment Outcome
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gamma-Aminobutyric Acid / metabolism
Substances
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Autoantibodies
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GABA Agonists
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Molecular Chaperones
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TOR1A protein, human
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gamma-Aminobutyric Acid
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Glutamate Decarboxylase