Clinical spectrum of McArdle disease: three cases with unusual expression.

Abstract

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.

• Authors: L Chiadò-Piat, T Mongini, C Doriguzzi, M Maniscalco, L Palmucci
• Journal: European neurology (Eur Neurol) Vol. 33 Issue 3 Pg. 208-11 ( 1993) ISSN: 0014-3022 [Print] Switzerland
• PMID: 8467839 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Muscle Proteins
• Phosphorylases

Topics

• Biopsy
• Child
• Exercise (physiology)
• Glycogen Storage Disease Type V (diagnosis, genetics, pathology)
• Humans
• Male
• Microscopy, Electron
• Muscle Proteins (metabolism)
• Muscles (pathology)
• Neurologic Examination
• Phosphorylases (metabolism)
• Vacuoles (ultrastructure)