Glycogenosis type II a. Infantile form. Pompe disease. Acid maltase deficiency (alpha-glucosidase deficiency).
Incidence
AR inheritance. Gene located in chromosome 17. Predicted live birth incidence 1:40,000. It is pan-ethnic. Estimated prevalence of several thousands worldwide.
Clinical Characteristics
Onset at birth or during the first weeks of life. Profound hypotonia. Macroglosia. Cardiomegaly and cardiac failure. DTRs all usually absent due to involvement of the spinal cord. Death from cardiac failure occur before 2 years of age. Poor spontaneous movements, diffuse weakness, muscles later feel rubbery. Occasionally have seizures. Usually there is no hepatosplenomegaly. Dyspnea, exhaustion from sucking, feeding difficulties. Abn. EKG & EMG.
Precipitants
none
Provocation Tests
none
Diagnostic Procedures
EB-muscle, EB-W, EB-F. Muscle biopsy shows large amounts of glycogen.