Clinical spectrum of McArdle disease: three cases with unusual expression.
Three cases of myophosphorylase deficiency with unusual clinical expression are presented. The 1st had clinical characteristics suggesting a mild congenital myopathy, and the patient never experienced cramps or myalgias. The 2nd had a slowly progressive myopathy without cramps or myoglobinuria which was detected by chance. The 3rd presented with myoglobinuria and acute renal failure, unrelated to a triggering effort, and with permanent weakness and wasting. In all cases, muscle biopsy demonstrated a vacuolar myopathy with free glycogen increase and absence of myophosphorylase activity, confirmed by biochemical assays. The cases confirm the wide clinical spectrum of McArdle disease.
Chiadò-Piat
L
L
Paolo Peirolo Center for Neuromuscular Diseases, 2nd Division of Neurology, University of Turin, Italy.
Mongini
T
T
Doriguzzi
C
C
Maniscalco
M
M
Palmucci
L
L
D001706:Biopsy; D002648:Child; D015444:Exercise / Q000502:physiology; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D009124:Muscle Proteins / Q000378:metabolism; D009132:Muscles / Q000473:pathology; D009460:Neurologic Examination; D006005:Phosphorylases / Q000378:metabolism; D014617:Vacuoles / Q000648:ultrastructure
D009124:Muscle Proteins; D006005:Phosphorylases