GLYCOGENOSIS 2
\ɡlˌa͡ɪkə͡ʊd͡ʒnˈə͡ʊsɪs tˈuː], \ɡlˌaɪkəʊdʒnˈəʊsɪs tˈuː], \ɡ_l_ˌaɪ_k_əʊ_dʒ_n_ˈəʊ_s_ɪ_s t_ˈuː]\
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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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