McArdle’s disease (GSD type V): clinical features
Evidence-based neurology checklist on mcardle’s disease (gsd type v): clinical features: Exercise-induced symptoms Proximal weakness Fatigue: Muscle stiffness Myalgia Weakness Cramps Contractures Myoglobinuria Second wind phenomenon Third wind phenomenon Muscle wasting Other features Differential…
Exercise-induced symptoms
- Proximal weakness
- Fatigue:
- Muscle stiffness
- Myalgia
- Weakness
- Cramps
- Contractures
- Myoglobinuria
Second wind phenomenon
Third wind phenomenon
Muscle wasting
Other features
Differential diagnosis
Complications
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.
