Major advances in neuromuscular disorders in the past two decades

For a long time, the only way to support or confirm a diagnosis of a neuromuscular disorder was via electrophysiological and pathological studies. As a result, the classification and nomenclature of neuromuscular disorders (eg, limb girdle muscular dystrophy, polymyositis, and distal acquired demyelinating symmetric polyneuropathy) were based on these observations. Moreover, despite an accurate description of key clinical features, heterogeneous diseases were often grouped together. Furthermore, knowledge of the underlying causes of neuromuscular disorders was scarce. Over the past 20 years, the clinicopathological classification of neuromuscular disorders has shifted towards clinicoaetiological diagnoses. Immune-mediated and genetic neuromuscular disorders are compelling examples of this change in approach.