The pattern of involvement of adult-onset acid maltase deficiency at autopsy.
The autopsy findings in a clinically and biochemically documented case of adult-onset acid maltase deficiency presenting with limb girdle myopathy are presented. The skeletal muscles, tongue, extraocular and smooth muscles of gut and arterioles showed a vacuolar myopathy, most severely affecting proximal skeletal muscles. Muscle spindles were severely affected in all muscles. The heart showed basophilic degeneration and a vacuolar myopathy. The visceral organs and nervous system were morphologically normal. Possible mechanisms for this differential involvement of muscles and tissues are discussed.
D006008:Glycogen Storage Disease / Q000473:pathology*; D006009:Glycogen Storage Disease Type II / Q000473:pathology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D009470:Muscle Spindles / Q000473:pathology; D009130:Muscle, Smooth / Q000473:pathology; D009132:Muscles / Q000473:pathology*; D009206:Myocardium / Q000473:pathology; D009420:Nervous System / Q000473:pathology; D000520:alpha-Glucosidases / Q000172:deficiency*
D000520:alpha-Glucosidases