McArdle’s disease (GSD type V): investigations
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
McArdle’s disease (GSD type V): investigations. This has a high risk of false positive results. Fully referenced neurology checklist.
Non-ischaemic forearm test
- This has a high risk of false positive results
- It however has a lesser risk of compartment syndrome than the ischaemic test
Function tests
Locked: subscribe to see this section.
Muscle biopsy
Locked: subscribe to see this section.
Other neurological tests
Locked: subscribe to see this section.
Genetics
Locked: subscribe to see this section.
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.
- Løkken N, Revsbech KL, Jacobsen LN, et al. Muscle MRI in McArdle disease: a European multicenter observational study. Neurology 2022 (Online ahead of print).
- Álvarez-Velasco R, Nuñez-Peralta CA, Alonso-Pérez J, et al. High prevalence of paraspinal muscle involvement in adults with McArdle disease. Muscle Nerve 2022; 65:568-573.
- Andersen ST, Duno M, Schwartz M, Vissing J. Do carriers of PYGM mutations have symptoms of McArdle disease? Neurology 2006; 67:716-718.
