Document Detail

McArdle's disease with late-onset symptoms: case report and review of the literature.
MedLine Citation:
PMID:  1602316     Owner:  NLM     Status:  MEDLINE    
McArdle's disease with late-onset symptoms is an unusual cause for muscle disease in older patients. The case of a patient with McArdle's disease whose symptoms began at 60 years of age is presented, and seven previous cases of late-onset McArdle's disease reported since 1963 are discussed. In five of the eight patients, the clinical presentation was similar to the early onset disorder with exercise intolerance, cramps, and myoglobinuria. In contrast, the remaining three patients presented with fixed proximal limb and bulbar weakness. Electromyography confirmed a myopathic process in four of four patients. Results of the forearm ischaemic exercise test were positive in seven of seven patients with complete myophosphorylase deficiency; results of muscle biopsies were diagnostic in all patients. McArdle's disease with late-onset symptoms is rare and clinically more variable than the early onset disorder.
K J Felice; A B Schneebaum; H R Jones
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Publication Detail:
Type:  Case Reports; Journal Article; Review    
Journal Detail:
Title:  Journal of neurology, neurosurgery, and psychiatry     Volume:  55     ISSN:  0022-3050     ISO Abbreviation:  J. Neurol. Neurosurg. Psychiatr.     Publication Date:  1992 May 
Date Detail:
Created Date:  1992-07-15     Completed Date:  1992-07-15     Revised Date:  2009-11-18    
Medline Journal Info:
Nlm Unique ID:  2985191R     Medline TA:  J Neurol Neurosurg Psychiatry     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  407-8     Citation Subset:  IM    
Department of Neurology, Lahey Clinic Medical Center, Burlington, Mass 01805.
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MeSH Terms
Creatine Kinase / blood
Exercise Test
Glycogen Storage Disease Type V / diagnosis*,  pathology
Muscles / pathology
Neurologic Examination
Phosphorylases / deficiency
Reg. No./Substance:
EC 2.4.1.-/Phosphorylases; EC Kinase

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