Non-osteogenic muscle hypertrophy in children with McArdle disease
- 99 Downloads
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).
Compliance with ethical standards
Conflict of interest
- Demirsoy U, Sarper N, Gelen SA, Zengin E, Kum T, Demir H (2017) The association of oral vitamin D and calcium supplementation with bone mineral density in pediatric acute lymphoblastic leukemia patients. J Pediatr Hematol Oncol 39(4):287–292Google Scholar
- Marrani E, Giani T, Simonini G, Cimaz R (2017) Pediatric osteoporosis: diagnosis and treatment considerations. Drugs 77(6):679-695. https://doi.org/10.1007/s40265-017-0715-3
- Nogales-Gadea G, Santalla A, Ballester-Lopez A et al (2016) Exercise and preexercise nutrition as treatment for McArdle disease. Med Sci Sports Exerc 48(4):673–679. https://doi.org/10.1249/MSS.0000000000000812
- Rodríguez-Gómez I, Santalla A, Diez-Bermejo J et al (2018) A new condition in McArdle disease: poor bone health—benefits of an active lifestyle. Med Sci Sports Exerc 50(1):3-10. https://doi.org/10.1249/MSS.0000000000001414
- Scalco RS, Morrow JM, Booth S, Chatfield S, Godfrey R, Quinlivan R (2017) Misdiagnosis is an important factor for diagnostic delay in McArdle disease. Neuromuscular Disord 27(9):852-855. https://doi.org/10.1016/j.nmd.2017.04.013
- Schoenau E (2005) From mechanostat theory to development of the" functional muscle-bone-unit". J Musculoskelet Nueronal Interact 5(3):232Google Scholar
- Schonau E, Schwahn B, Rauch F (2002) The muscle-bone relationship: methods and management — perspectives in glycogen storage disease. Eur J Pediatr 161(Suppl 1):S50–S52. https://doi.org/10.1007/s00431-002-1003-z
- Smith TJ, Tripkovic L, Lanham-New SA, Hart KH (2017) Vitamin D in adolescence: evidence-based dietary requirements and implications for public health policy. Proc Nutri Soc 1–10Google Scholar