[Clinical follow-up in the adult (myopathic) form of glycogenosis type II].
Adult acid maltase deficiency (AMD, glycogen storage disease type II) may involve respiratory muscles leading to severe respiratory failure even before the affection of pelvic girdle muscles has turned the patient non-ambulatory. The case of a 29-year-old woman is presented to demonstrate that long-term survival is possible even after acute respiratory failure has occurred. The examination of the patient's family revealed the diagnosis of AMD in her 24-year-old sister, so far without clinical symptoms. The comparison between the two patients of serum enzyme elevations (CK, LDH, GOT, GPT, aldolase) suggested that both physical activity and the stage of the disease may be correlated with the degree of enzyme level elevation.
D000328:Adult; D001706:Biopsy; D003937:Diagnosis, Differential; D004576:Electromyography; D005260:Female; D005500:Follow-Up Studies; D005087:Glucan 1,4-alpha-Glucosidase / Q000172:deficiency; D006003:Glycogen / Q000378:metabolism; D006008:Glycogen Storage Disease / Q000175:diagnosis*; D006009:Glycogen Storage Disease Type II / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D006801:Humans; D009132:Muscles / Q000473:pathology; D009133:Muscular Atrophy / Q000175:diagnosis; D000520:alpha-Glucosidases
D006003:Glycogen; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase
Klinische Verlaufsbeobachtungen bei der adulten (myopathischen) Form der Glykogenose Typ II.