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Muscular Dystrophies. 2018

John C Carter, and Daniel W Sheehan, and Andre Prochoroff, and David J Birnkrant
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.

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.

UI MeSH Term Description Entries
D009136 Muscular Dystrophies A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUSCLE WEAKNESS; AGE OF ONSET; and INHERITANCE PATTERNS. Muscular Dystrophy,Myodystrophica,Myodystrophy,Dystrophies, Muscular,Dystrophy, Muscular,Myodystrophicas,Myodystrophies
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D049288 Muscular Dystrophies, Limb-Girdle A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) involving genes encoding muscle membrane proteins such as the sarcoglycan (SARCOGLYCANS) complex that interacts with DYSTROPHIN. The disease is characterized by progressing wasting and weakness of the proximal muscles of arms and legs around the HIPS and SHOULDERS (the pelvic and shoulder girdles). Limb-Girdle Muscular Dystrophies,Limb-Girdle Muscular Dystrophy,Limb-Girdle Syndrome,Muscular Dystrophy, Limb-Girdle,Myopathic Limb-Girdle Syndrome,Limb Girdle Muscular Dystrophies,Limb Girdle Muscular Dystrophy,Muscular Dystrophies, Limb Girdle,Muscular Dystrophy, Limb Girdle
D020388 Muscular Dystrophy, Duchenne An X-linked recessive muscle disease caused by an inability to synthesize DYSTROPHIN, which is involved with maintaining the integrity of the sarcolemma. Muscle fibers undergo a process that features degeneration and regeneration. Clinical manifestations include proximal weakness in the first few years of life, pseudohypertrophy, cardiomyopathy (see MYOCARDIAL DISEASES), and an increased incidence of impaired mentation. Becker muscular dystrophy is a closely related condition featuring a later onset of disease (usually adolescence) and a slowly progressive course. (Adams et al., Principles of Neurology, 6th ed, p1415) Becker Muscular Dystrophy,Duchenne Muscular Dystrophy,Muscular Dystrophy, Becker,Muscular Dystrophy, Pseudohypertrophic,Becker's Muscular Dystrophy,Cardiomyopathy, Dilated, 3B,Cardiomyopathy, Dilated, X-Linked,Childhood Muscular Dystrophy, Pseudohypertrophic,Childhood Pseudohypertrophic Muscular Dystrophy,Duchenne and Becker Muscular Dystrophy,Duchenne-Becker Muscular Dystrophy,Duchenne-Type Progressive Muscular Dystrophy,Muscular Dystrophy Pseudohypertrophic Progressive, Becker Type,Muscular Dystrophy, Becker Type,Muscular Dystrophy, Childhood, Pseudohypertrophic,Muscular Dystrophy, Duchenne Type,Muscular Dystrophy, Duchenne and Becker Types,Muscular Dystrophy, Pseudohypertrophic Progressive, Becker Type,Muscular Dystrophy, Pseudohypertrophic Progressive, Duchenne Type,Muscular Dystrophy, Pseudohypertrophic, Childhood,Progressive Muscular Dystrophy, Duchenne Type,Pseudohypertrophic Childhood Muscular Dystrophy,Pseudohypertrophic Muscular Dystrophy, Childhood,Duchenne Becker Muscular Dystrophy,Duchenne Type Progressive Muscular Dystrophy,Muscular Dystrophy, Becker's,Muscular Dystrophy, Duchenne-Becker,Pseudohypertrophic Muscular Dystrophy
D020391 Muscular Dystrophy, Facioscapulohumeral An autosomal dominant degenerative muscle disease characterized by slowly progressive weakness of the muscles of the face, upper-arm, and shoulder girdle. The onset of symptoms usually occurs in the first or second decade of life. Affected individuals usually present with impairment of upper extremity elevation. This tends to be followed by facial weakness, primarily involving the orbicularis oris and orbicularis oculi muscles. (Neuromuscul Disord 1997;7(1):55-62; Adams et al., Principles of Neurology, 6th ed, p1420) Facioscapulohumeral Muscular Dystrophy,Landouzy-Dejerine Dystrophy,FSH Muscular Dystrophy,Facio-Scapulo-Humeral Dystrophy,Facioscapulohumeral Atrophy,Facioscapulohumeral Type Progressive Muscular Dystrophy,Facioscapuloperoneal Muscular Dystrophy,Muscular Dystrophy, Landouzy Dejerine,Progressive Muscular Dystrophy, Facioscapulohumeral Type,Atrophies, Facioscapulohumeral,Atrophy, Facioscapulohumeral,Dystrophies, Facioscapulohumeral Muscular,Dystrophies, Landouzy-Dejerine,Dystrophy, Facioscapulohumeral Muscular,Dystrophy, Landouzy-Dejerine,Facioscapulohumeral Atrophies,Facioscapulohumeral Muscular Dystrophies,Landouzy Dejerine Dystrophy,Landouzy-Dejerine Dystrophies,Muscular Dystrophies, Facioscapulohumeral

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