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Muscular dystrophy encompasses a diverse group of genetically determined muscle disorders. The first clinical description of the disorder is attributed to Giovanni Semmola, who, in 1829, described 2 boys affected by a disorder with prominent muscular hypertrophy.1 Between 1850 and 1868, Aran, Meryon, and Duchenne described a progressive atrophy of voluntary muscles, ultimately termed pseudohypertrophic muscular paralysis of children by Duchenne.1,2 Other descriptions followed: familial atrophy of the pelvic girdle muscles (Leyden in 1876), scapulohumeral muscular atrophy (Erb in 1884), and myopathy with facial weakness (Landouzy and Dejerine in 1884).1 The term limb-girdle muscular dystrophy (LGMD), suggested by Stevenson in 1953,3 and further detailed by Walton and Nattrass in a seminal article,2 refers to a group of muscular dystrophies with onset of weakness in the shoulder or pelvic girdles.4 The variable clinical course of this disorder was recognized even in these early descriptions.2,3
Narayanaswami P. Dismantling Limb-Girdle Muscular DystrophyThe Role of Whole-Exome Sequencing. JAMA Neurol. 2015;72(12):1409-1411. doi:10.1001/jamaneurol.2015.2749