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 "diabetes mellitus" symptom

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

allergic bronchopulmonary aspergillosis

alpha-thalassemia

child syndrome

cholangiocarcinoma

cohen syndrome

congenital adrenal hyperplasia

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cystinuria

esophageal adenocarcinoma

esophageal carcinoma

esophageal squamous cell carcinoma

fabry disease

familial hypocalciuric hypercalcemia

malignant atrophic papulosis

neuralgic amyotrophy

pyomyositis

sneddon syndrome

typhoid

werner syndrome

wolf-hirschhorn syndrome

This symptom has already been validated