Acid maltase deficiency in adults. Diagnosis and management in five cases.

摘要: Five patients with adult onset acid maltase deficiency are described. All had developed their initial pelvic girdle symptoms late in the second or early third decade and some years later signs of respiratory insufficiency. Typically they were tall, weak wasted paraspinal gluteal muscles lower limb weakness. orthopnoeic marked diaphragmatic In all characteristic glycogen vacuoles seen peripheral blood lymphocytes. Muscle biopsy was only 1 out 4 cases showed minimal nonspecific features 3. The diagnosis confirmed by enzyme assay muscle cultured fibroblasts. Long-term domiciliary ventilatory support (25 patient-years) using a rocking bed intermittent positive pressure respiration tracheostomy has allowed return to work patients, clinical condition remaining stable.