muscle glycogen storage disease

A glycogen storage disease charaterized by childhood-onset condition with exercise intolerance, arrhythmia, cardiomyopathy, and sudden death that has_material_basis_in homozygous mutation in the GYS1 gene which encodes muscle glycogen synthase, on chromosome 1

A glycogen storage disease charaterized by childhood-onset condition with exercise intolerance, arrhythmia, cardiomyopathy, and sudden death that has_material_basis_in homozygous mutation in the GYS1 gene which encodes muscle glycogen synthase, on chromosome 19q13.

Signs and symptoms

• Bilateral tonic-clonic seizure
• Type 2 muscle fiber atrophy
• Decreased myocardial glycogen content
• Cardiac arrest
• Fatty replacement of skeletal muscle
• Limited ankle dorsiflexion
• Left atrial enlargement
• Hypoglycemia
• Limb pain
• Decreased muscle glycogen content