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Case Report/Case Series |

Severe Axial Myopathy in McArdle Disease

Nanna Witting, PhD1; Morten Duno, PhD2; Monique Piraud, PhD3; John Vissing, MD, DMSci1
[+] Author Affiliations
1Neuromuscular Research Unit, Department of Neurology, Blegdamsvej, Copenhagen, Sealand, Denmark
2Department of Clinical Genetics, University of Copenhagen, Copenhagen, Denmark
3Laboratoire des Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Centre de Biologie Est, Hospices Civils de Lyon, Lyon, France
JAMA Neurol. 2014;71(1):88-90. doi:10.1001/jamaneurol.2013.3209.
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Importance  McArdle disease is a nonlysosomal glycogenosis that classically manifests with exercise-induced pain from childhood. Fixed weakness may occur from the fifth decade and is typically mild and located around the shoulder girdle.

Observations  We describe a 61-year-old man with exercise-induced pain from a young age and a 3-year history of weight loss and an elevated creatine kinase level up to 4000 U/L. On examination, he was severely atrophic and weak in his shoulder girdle and the entire paraspinal musculature. Magnetic resonance imaging confirmed that the paraspinal musculature was completely converted to fat. A muscle biopsy specimen was myopathic with a lack of myophosphorylase and multiple large vacuoles with glycogen. A nonischemic forearm test demonstrated a lack of increase in lactate together with an exaggerated ammonium elevation. Genetic testing verified the suspicion of McArdle disease.

Conclusions and Relevance  This is a highly atypical presentation of McArdle disease with severe paraspinal wasting and weakness. We suspect that this is related to the unusual amount of glycogen vacuoles and stress the importance of including McArdle disease in the differential diagnosis of axial myopathy.

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Clinical, Magnetic Resonance, and Histological Images of a Patient With an Unusual Phenotype for McArdle Disease

A, The backward, bended posture of the patient. B, Severe wasting of the shoulder girdle and paraspinal muscles. C, Magnetic resonance imaging of lumbar paraspinal musculature shows complete fatty transformation. D and E, Succinate dehydrogenase stain shows multiple subsarcolemmal empty vacuoles (D) (original magnification ×40) that contain glycogen on periodic acid–Schiff staining (E) (original magnification ×60).

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