Document Detail

Myopathic causes of exercise intolerance with rhabdomyolysis.
MedLine Citation:
PMID:  22616958     Owner:  NLM     Status:  Publisher    
We review the muscular dystrophies and metabolic myopathies associated with myalgia and rhabdomyolysis together with some less well-recognized associations based upon the personal practice of the authors. A careful history and clinical examination will direct investigation towards an accurate molecular diagnosis. Non-specific exercise-induced myalgia in the presence of muscle hypertrophy and a high creatine kinase will point towards a muscular dystrophy. Symptoms occurring within minutes of exercise and with isometric contraction, especially with a history of a 'second wind' phenomenon, suggest a disorder of glycogen metabolism. In those patients in whom symptoms occur after prolonged exercise, infections, fasting, stress, and cold, a disorder of fatty acid oxidation should be considered. Heat-induced rhabdomyolysis caused by exercising in hot and humid climates should lead the clinician to suspect a mutation in RYR1. Serum creatine kinase level should be a checked in all children presenting with leg pains. A careful history and examination and laboratory confirmation of myoglobinuria will target investigations leading to a correct molecular diagnosis.
Ros Quinlivan; Heinz Jungbluth
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Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2012-5-23
Journal Detail:
Title:  Developmental medicine and child neurology     Volume:  -     ISSN:  1469-8749     ISO Abbreviation:  -     Publication Date:  2012 May 
Date Detail:
Created Date:  2012-5-23     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  0006761     Medline TA:  Dev Med Child Neurol     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© The Authors. Developmental Medicine & Child Neurology © 2012 Mac Keith Press.
 MRC Centre for Neuromuscular Diseases, Institute of Neurology, National Hospital, London;  Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London;  Clinical Neuroscience Division, IOP, King's College, London;  Department of Paediatric Neurology - Neuromuscular Service, Evelina Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London, UK.
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