Pathophysiologic Mechanisms in Neuromuscular Disease

Neuromuscular disorders can be classified according to the cellular functions affected, such as energy utilization, function of membrane channels and synaptic transmission, integrity of structural proteins, or proteasome efficiency and autophagy. Each of these functions can be disrupted by different categories of disease. In addition, our growing understanding of the genetic mechanisms of disease goes well beyond mutations leading to changes in function of a single protein product but now includes numerous mechanisms including genetic and sporadic disorders or RNA splicing and translation as well as epigenetic modifications that influence gene expression.