Non-osteogenic muscle hypertrophy in children with McArdle disease
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McArdle disease is an inborn disorder of muscle glycogen metabolism that produces exercise intolerance, and has been recently associated with low values of lean mass (LM) and bone mineral content (BMC) and density (BMD) in affected adults. Here we aimed to study whether this bone health problem begins in childhood.
Forty children and adolescents were evaluated: 10 McArdle disease and 30 control children (mean age of both groups, 13 ± 2y). Body composition was evaluated by dual-energy X-ray absorptiometry and creatine kinase (CK) levels were determined in the patients as an estimate of muscle damage.
Legs bone mass was significantly lower in patients than in controls (−36% for BMC and −22% for BMD). Moreover, patients had significantly higher LM values in the legs than controls, whereas no difference was found for fat mass. CK levels were positively associated with LM in McArdle patients. A correlation was found between LM and BMD variables in the control group but not in McArdle patients.
We have identified a ‘non-osteogenic muscle hypertrophy’ in children with McArdle disease. This phenomenon warrants special attention since low osteogenesis at an early age predicts a high risk for osteoporosis later in life.
This study was funded by the Cátedra Real Madrid - Universidad Europea de Madrid (P2016/RM25), Fondo de Investigaciones Sanitarias (A.L., PI15/00558; G.N.G, PI15/01756 and CP14/00032, J.A. PI14/00903), AFM Telethon Trampoline Grant #21108, the Biomedical Research Networking Center on Frailty and Healthy Aging (CIBERFES) and FEDER funds from the European Union (CB16/10/00477). Irene Rodríguez Gómez has received a PhD grant from the Universidad de Castilla-La Mancha “Contratos predoctorales para la formación de personal investigador en el marco del Plan Propio de I + D + i, cofinanciados por el Fondo Social Europeo” (2014/10340).
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