glycogen storage disease II

info · Genetic · ICD-10: E74.02

A glycogen storage disease characterized by cardiomyopathy and muscular hypotonia are the cardinal features.

Signs and symptoms

Pleural effusion
Difficulty climbing stairs
Urinary incontinence
Nonimmune hydrops fetalis
Limb muscle weakness
Right axis deviation
Increased circulating lactate dehydrogenase concentration
Muscle weakness
Exercise intolerance
Subarachnoid hemorrhage

Medications that may treat it

alglucosidase alfa avalglucosidase alfa cipaglucosidase alfa

Also known as: Generalized glycogenosis; Glycogen storage disease 2; Glycogen storage disease, type II; Glycogenosis, type 2; Lysosomal alpha-1,4-glucosidase deficiency