Journal
ARQUIVOS DE NEURO-PSIQUIATRIA
Volume 72, Issue 7, Pages 538-541Publisher
ASSOC ARQUIVOS NEURO- PSIQUIATRIA
DOI: 10.1590/0004-282X20140062
Keywords
McArdle Disease; glycogen storage disease type V; second wind phenomenon; exercise test; 12 minute walk test
Categories
Funding
- Ciencias sem Fronteiras/CAPES Foundation
- European Union
- Muscular Dystrophy Campaign
- NHS National Specialist Commissioning Group
- Myositis
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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.
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