Growth in Duchenne Muscular Dystrophy

  • Maria Grazia D’Angelo
  • Sandra Gandossini


Duchenne muscular dystrophy (DMD) affects 1:3500 live male births; it is caused by mutations in the dystrophin gene on the X chromosome at Xp21. Males are affected and females are carriers of the gene mutation. Boys with DMD present in early childhood with abnormal gait, calf hypertrophy, and difficulty in rising from the floor and in climbing stairs, delayed walking, increased falls and decreased motor activity. Glucocorticoids are the only medication currently available that slows the decline in muscle strength and function in DMD, which in turn reduces the risk of scoliosis and stabilises pulmonary function; nevertheless, this treatment has several side effects, two of which relate to child height and weight growth. Short stature is a common feature in DMD: the patients lose height during the first years of life, following which they grow within a lower growth channel. Almost 50% of dystrophic children are obese by the age of 13 and around the same percentage are underfed by the age of 18. Progression of muscle weakness and leg contractures leads to loss of walking and complete wheelchair dependence at a mean age of 10–12 years, and the ensuing early teenage years are marked by the development of progressive scoliosis. Respiratory, orthopaedic, and cardiac complications emerge, and without intervention, the mean age at death is around 19 years. The leading cause of death is respiratory insufficiency, although a minority die because of cardiac complications such as dilated cardiomyopathy. Non-progressive cognitive dysfunction (comprehensive developmental delay and speech and language disorders) and difficulties in social functioning (autism spectrum disorders, emotional adjustment, and coping) might also be present. The multisystem complications of DMD necessitate a multidisciplinary team approach for optimal surveillance and management.


Bone Mineral Density Autism Spectrum Disorder Forced Vital Capacity Duchenne Muscular Dystrophy Duchenne Muscular Dystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.



Angiotensin-converting enzymes


Angiotensin receptor blockers


Bone mineral density


Becker muscular dystrophy


Body mass index


Creatine kinase


Conformation sensitive capillary electrophoresis


Dilated cardiomyopathy


Dual-energy X-ray absorptiometry


Duchenne muscular dystrophy


X-ray absorptiometry






Forced expiratory volume


Fat-free mass


Forced vital capacity


Growth hormone


Gastrointestinal tract


Maximal expiratory pressure


Maximal inspiratory pressure


Multiplex ligation-dependent probe amplification


Magnetic resonance imaging


Mechanical non-invasive ventilation


Non-steroidal anti-inflammatory drugs


Peak cough flow


Polymerase chain reaction


Resting energy expenditure


Rapid eye movement


Range of motion


Sleep disordered breathing


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Copyright information

© Springer Science+Business Media, LLC 2012

Authors and Affiliations

  1. 1.NeuroMuscular Unit, Department of NeuroRehabilitationIRCCS E. MedeaBosisio Parini, LeccoItaly

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