I Rodríguez-Gómez1,2, A Santalla2,3, J Díez-Bermejo4, D Munguía-Izquierdo2,3, L M Alegre1,2, G Nogales-Gadea5,6, J Arenas4,6, M A Martín4,6, A Lucía2,7, I Ara8,9. 1. GENUD Toledo Research Group, Universidad de Castilla-La Mancha, Avda Carlos III s/n, 45071, Toledo, Spain. 2. CIBER of Frailty and Healthy Aging (CIBERFES), Madrid, Spain. 3. Department of Sport and Computer Science, Section of Physical Education and Sports, Faculty of Sport, Universidad Pablo de Olavide, Sevilla, Spain. 4. Research Institute Hospital 12 de Octubre, Madrid, Spain. 5. Neuromuscular and Neuropediatric Research Group, Institut d'Investigació en Ciències de la Salut Germans Trias i Pujol, Campus Can Ruti, Universitat Autònoma de Barcelona, Badalona, Spain. 6. CIBER Rare Disorders (CIBERER), Madrid, Spain. 7. School of Research and Doctorate Studies, Universidad Europea de Madrid, Madrid, Spain. 8. GENUD Toledo Research Group, Universidad de Castilla-La Mancha, Avda Carlos III s/n, 45071, Toledo, Spain. ignacio.ara@uclm.es. 9. CIBER of Frailty and Healthy Aging (CIBERFES), Madrid, Spain. ignacio.ara@uclm.es.
Abstract
INTRODUCTION: 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. METHODS: 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. RESULTS: 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. CONCLUSION: 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.
INTRODUCTION: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. METHODS: 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. RESULTS: 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 McArdlepatients. A correlation was found between LM and BMD variables in the control group but not in McArdlepatients. CONCLUSION: 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.
Authors: Jonathan A Mitchell; Alessandra Chesi; Okan Elci; Shana E McCormack; Heidi J Kalkwarf; Joan M Lappe; Vicente Gilsanz; Sharon E Oberfield; John A Shepherd; Andrea Kelly; Babette S Zemel; Struan F A Grant Journal: J Bone Miner Res Date: 2015-05-26 Impact factor: 6.741
Authors: Sapna S Patel; Miklos Z Molnar; John A Tayek; Joachim H Ix; Nazanin Noori; Deborah Benner; Steven Heymsfield; Joel D Kopple; Csaba P Kovesdy; Kamyar Kalantar-Zadeh Journal: J Cachexia Sarcopenia Muscle Date: 2012-07-10 Impact factor: 12.910