Nicoline Løkken, Karoline Lolk Revsbech, Laura Nørager Jacobsen, Andrea Martinuzzi, Miguel Ángel Martin, Jordi Díaz-Manera, Cristina Dominguez-Gonzalez, Giovanni Brondani, Olimpia Musumeci, Francesca Granata, Cristina Stefan, Concepción Merino-Sanchez, Claudia Nuñez Peralta, Tahmina Khawajazada, Jorge Alonso-Pérez, Antonio Toscano, John Vissing
BACKGROUND AND OBJECTIVES: Glycogen storage disease type V (GSDV) or McArdle disease is a muscle glycogenosis that classically manifests with exercise intolerance and exercise-induced muscle pain. Muscle weakness and wasting may occur but is typically mild and described as located around the shoulder-girdle in elderly patients. Paraspinal muscle involvement has received little attention in the literature. The present study aimed to quantify fat-replacement of paraspinal, shoulder and lower limb muscles by magnetic resonance imaging in a European cohort of GSDV patients...
July 19, 2022: Neurology