Stiff child syndrome with mutation of DYT1 gene

Neurology. 2005 Nov 8;65(9):1465-6. doi: 10.1212/01.wnl.0000183153.82651.72.

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.

Publication types

  • Case Reports

MeSH terms

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

Substances

  • Autoantibodies
  • GABA Agonists
  • Molecular Chaperones
  • TOR1A protein, human
  • gamma-Aminobutyric Acid
  • Glutamate Decarboxylase