Glycogenosis type II b. Adult form. Acid maltase deficiency (alpha-glucosidase deficiency)
Incidence
AR inheritance.
Clinical Characteristics
Only skeletal muscle is involved. Patients present with slowly progressive proximal limb weakness. It is very slowly progressive, leading to increase disability & rarely respiratory insuficiency. No organomegaly is found. Abnormal EMG myopathic pattern. Often asymptomatic until 3rd. decade.
Precipitants
none
Provocation Tests
no
Diagnostic Procedures
EB-F, EB-W, biopsy of muscle shows glycogen storage.