McArdle’s disease (GSD type V): clinical features
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
McArdle’s disease (GSD type V): clinical features. Proximal weakness, Fatigue, Muscle stiffness, Myalgia, Weakness. Fully referenced neurology checklist.
Exercise-induced symptoms
- Proximal weakness
- Fatigue:
- Muscle stiffness
- Myalgia
- Weakness
- Cramps
- Contractures
- Myoglobinuria
Second wind phenomenon
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Third wind phenomenon
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Muscle wasting
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Other features
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Differential diagnosis
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Complications
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References
- Quinlivan R. McArdle's disease: a clinical review. JNNP 2010; 81:1182-1188.
- Hilton-Jones D. McArdle’s disease. Pract Neurol 2001; 1:122-125.
- Andersen ST, Duno M, Schwartz M, Vissing J. Do carriers of PYGM mutations have symptoms of McArdle disease? Neurology 2006; 67:716-718.
- Lucia A, Martinuzzi A, Nogales-Gadea Get al. Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study group. Neuromuscul Disord 2021; 31:1296-1310.
- Scalco RS, Morrow JM, Booth S, Chatfield S, Godfrey R, Quinlivan R. Misdiagnosis is an important factor for diagnostic delay in McArdle disease. Neuromuscul Disord 2017; 27:852-855.
