Muscular Dystrophies - 18/05/18

Doi : 10.1016/j.ccm.2018.01.004

John C. Carter, MD ^a, Daniel W. Sheehan, PhD, MD ^b, Andre Prochoroff, MD ^c, David J. Birnkrant, MD ^d,^⁎
^a Division of Pulmonary, Critical Care and Sleep Medicine, MetroHealth Medical Center, Case Western Reserve University School of Medicine, 2500 MetroHealth Drive, Cleveland, OH 44019, USA
^b Division of Pediatric Pulmonology, John R. Oishei Children's Hospital, University at Buffalo, 955 Main Street, Buffalo, NY 14203, USA
^c Division of Pediatric Neurology, MetroHealth Medical Center, Case Western Reserve University School of Medicine, 2500 MetroHealth Drive, Cleveland, OH 44019, USA
^d Division of Pediatric Pulmonology, MetroHealth Medical Center, Case Western Reserve University School of Medicine, 2500 MetroHealth Drive, Cleveland, OH 44019, USA

^∗Corresponding author.

Résumé

Muscular dystrophies represent a complex, varied, and important subset of neuromuscular disorders likely to require the care of a pulmonologist. The spectrum of conditions encapsulated by this subset ranges from severe and fatal congenital muscular dystrophies with onset in infancy to mild forms of limb and girdle weakness with onset in adulthood and minimal respiratory compromise. The list and classification of muscular dystrophies are undergoing near-constant revision, based largely on new insights from genetics and molecular medicine. The authors present an overview of the muscular dystrophies, including their basic features, common clinical phenotypes, and important facets of management.

Le texte complet de cet article est disponible en PDF.

Keywords : Muscular dystrophy, Duchenne muscular dystrophy, Limb girdle muscular dystrophy, Facioscapulohumeral muscular dystrophy, Respiratory failure, Cardiomyopathy