title: From exercise intolerance to functional improvement: the second wind phenomenon in the identification of McArdle disease.
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.
authors: MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology, Queen Square, London, United Kingdom.
authors: Renata Siciliani
authors: RS
authors: Scalco
authors: MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology, Queen Square, London, United Kingdom.
authors: Sherryl
authors: S
authors: Chatfield
authors: MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology, Queen Square, London, United Kingdom.
authors: Richard
authors: R
authors: Godfrey
authors: MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology, Queen Square, London, United Kingdom.
authors: Jatin
authors: J
authors: Pattni
authors: MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology, Queen Square, London, United Kingdom.
authors: Charlotte
authors: C
authors: Ellerton
authors: MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology, Queen Square, London, United Kingdom.
authors: Andrea
authors: A
authors: Beggs
authors: MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology, Queen Square, London, United Kingdom.
authors: Stefen
authors: S
authors: Brady
authors: The Association for Glycogen Storage Disease, United Kingdom.
authors: Andrew
authors: A
authors: Wakelin
authors: MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology, Queen Square, London, United Kingdom.
authors: Janice L
authors: JL
authors: Holton
authors: MRC Centre for Neuromuscular Diseases and Division of Neuropathology, University College London Institute of Neurology, Queen Square, London, United Kingdom.
authors: Ros
authors: R
authors: Quinlivan
mesh_terms: D001706:Biopsy; D003951:Diagnostic Errors; D005080:Exercise Test / Q000379:methods*; D006012:Glycogen Storage Disease Type V / Q000473:pathology* / Q000503:physiopathology*; D006339:Heart Rate / Q000502:physiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D013997:Time Factors; D016138:Walking / Q000502:physiology