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McArdle disease: a clinical review
  1. R Quinlivan1,
  2. J Buckley1,2,
  3. M James1,
  4. A Twist1,
  5. S Ball3,
  6. M Duno4,
  7. J Vissing4,
  8. C Bruno5,
  9. D Cassandrini5,
  10. M Roberts6,
  11. J Winer7,
  12. M Rose8,
  13. C Sewry1
  1. 1The Wolfson Centre for Inherited Neuromuscular Disease, RJAH Orthopaedic NHS Trust, Oswestry, UK
  2. 2The Centre for Exercise and Nutrition Science, University of Chester, UK
  3. 3The Princess Diana Children's Hospital, Birmingham, UK
  4. 4The Neuromuscular Research Unit, Departments of Neurology and Clinical Genetics, National University Hospital, Rigshospitalet, Copenhagen, Denmark
  5. 5The Neuromuscular Diseases Unit, Istituto Giannina Gaslini, Genova, Italy
  6. 6Greater Manchester Neurosciences Centre, Hope Hospital, Salford, Manchester, UK
  7. 7Department of Neurology, Queen Elizabeth Hospital, Edgbaston, Birmingham, UK
  8. 8Department of Neurology, King's College Hospital and King's College School of Medicine, London, UK
  1. Correspondence to Dr R Quinlivan, The Wolfson Centre for Inherited Neuromuscular Disease, The Robert Jones and Agnes Hunt Orthopaedic and District Hospital NHS Trust, Oswestry, Shropshire, SY10 7AG, UK; ros.quinlivan{at}


Methods The clinical phenotype of 45 genetically confirmed McArdle patients is described.

Results In the majority of patients (84%), the onset of symptoms was from early childhood but diagnosis was frequently delayed until after 30 years of age. Not all patients could recognise a second wind although it was always seen with exercise assessment. A history of myoglobinuria was not universal and episodes of acute renal failure had occurred in a minority (11%). The condition does not appear to adversely affect pregnancy and childbirth. Clinical examination was normal in most patients, muscle hypertrophy was present in 24% and mild muscle wasting and weakness were seen only in patients over 40 years of age and was limited to shoulder girdle and axial muscles. The serum creatine kinase was elevated in all but one pregnant patient. Screening for the mutations pArg50X (R50X) and pGly205Ser (G205S) showed at least one mutated allele in 96% of Caucasian British patients, with an allele frequency of 77% for pArg50X in this population. A 12 min walking test to evaluate patients is described.

Conclusion The results demonstrated a wide spectrum of severity with the range of distance walked (195–1980 m); the mean distance walked was 512 m, suggesting significant functional impairment in most patients.

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  • Funding AGSDUK, Muscular Dystrophy Campaign.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval The study was conducted with the approval of the Shropshire and Staffordshire Ethics Committee.

  • Provenance and peer review Not commissioned; externally peer reviewed.