From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease

Arq Neuropsiquiatr. 2014 Jul;72(7):538-41. doi: 10.1590/0004-282x20140062.

Abstract

McArdle disease is the most common of the glycogen storage diseases. Onset of symptoms is usually in childhood with muscle pain and restricted exercise capacity. Signs and symptoms are often ignored in children or put down to 'growing pains' and thus diagnosis is often delayed. Misdiagnosis is not uncommon because several other conditions such as muscular dystrophy and muscle channelopathies can manifest with similar symptoms. A simple exercise test performed in the clinic can however help to identify patients by revealing the second wind phenomenon which is pathognomonic of the condition. Here a patient is reported illustrating the value of using a simple 12 minute walk test.

Publication types

  • Case Reports

MeSH terms

  • Biopsy
  • Diagnostic Errors
  • Exercise Test / methods*
  • Glycogen Storage Disease Type V / pathology*
  • Glycogen Storage Disease Type V / physiopathology*
  • Heart Rate / physiology
  • Humans
  • Male
  • Middle Aged
  • Time Factors
  • Walking / physiology