| 单词 | Juvenile Glycogen Storage Disease Type II |
| 释义 | Juvenile Glycogen Storage Disease Type II《英文msh词典》Juvenile Glycogen Storage Disease Type II [入口词] Juvenile Glycogen Storage Disease Type II [主题词] Glycogen Storage Disease Type II [英文释义] 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) |
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