《英文msh詞典》Pompes Disease
[入口詞] Pompes Disease
[主題詞] Glycogen Storage Disease Type II
[英文釋義] An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE DEFICIENCY. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE,SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile,childhood,and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY,HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes,Textbook of Child Neurology,5th ed,pp73-4)