Abstract
McArdle disease is a glycogen storage myopathy which is caused by mutations in thePYGM gene with resultant myophosphorylase deficiency. Patients with McArdle disease typically present with exercise intolerance and recurrent rhabdomyolysis. These patients may also manifest fixed proximal limb weakness and persistent CK elevation. Muscle biopsy is useful to differentiate McArdle disease from other metabolic myopathies, such as other glycogen storage myopathies, lipid storage myopathies, and mitochondrial myopathies, to direct genetic testing. Here we present a patient with McArdle disease who was initially misdiagnosed with inflammatory myopathy and was unnecessarily exposed to immunosuppressive therapies. A correct diagnosis was achieved by a muscle biopsy, which led to appropriate management.
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Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA
Lan Zhou
- Lan Zhou
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Correspondence toLan Zhou.
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Departments of Neurology and Pathology, Boston University Medical Center, Boston, MA, USA
Lan Zhou
Department of Pathology, Neuropathology Section, University of Texas Southwestern Medical Center, Dallas, TX, USA
Dennis K. Burns
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX, USA
Chunyu Cai
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Zhou, L. (2020). A 51-Year-Old Woman with Long-Standing Exercise Intolerance. In: Zhou, L., Burns, D., Cai, C. (eds) A Case-Based Guide to Neuromuscular Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-25682-1_13
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