Glycogenosis type II a. Childhood 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. Mild hypertrophy of calves. It is progressive, leading to increase disability & respiratory insuficiency by the end of the second or third decade of life. No organomegaly is found. EMG has myopathic pattern. Muscle biopsy shows glycogen storage.
Precipitants
none
Provocation Tests
no
Diagnostic Procedures
EB-F, EB-W, biopsy of muscle shows glycogen storage.