Stiff child syndrome with mutation of DYT1 gene.

[child syndrome]

The authors report a Chinese boy with a DYT 1 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 DYT 1 mutation . His asymptomatic sister has diabetes mellitus and antibodies to glutamic acid decarboxylase but no DYT 1 mutation .

Diseases
Validation

Diseases presenting "myoclonus" symptom

acute rheumatic fever

alexander disease

cadasil

child syndrome

gm1 gangliosidosis

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

This symptom has already been validated