Abstract
Abstract Inherited neuromuscular disease encompasses a broad array of diseases afflicting people at all stages of life. The main categories of inherited neuromuscular disease are diseases of peripheral nerve (neuropathy), neuromuscular junction (myasthenia), diseases of muscle (myopathy and dystrophy) and diseases of spinal cord motor neurons (motor neuron disease). The number of genes underlying such disorders has expanded greatly in the past 10 years. The discovery of such genes has allowed development of specific therapeutic approaches based on genetic diagnosis, as well as the ability to tackle pathways involved in multiple disorders. It has also complicated diagnosis, with mutations in single genes causing multiple clinical phenotypes. Research is starting to have concrete benefits, with treatments beginning to emerge from basic science research with the hope that many more will show efficacy over the next decade. Key Concepts Expanded genetic testing has led to the identification of dozens of new genes implicated in neuromuscular disorders. Single genes can cause a wide spectrum of neuromuscular disease, and multiple genes can cause very similar clinical phenotypes. Identification of pathways involved in neuromuscular disease may allow for therapies that are not specific to a single gene or mutation. Pathways involved in inherited neuromuscular disorder are also involved in sporadic and acquired disease. Gene‐specific therapy is being developed for multiple inherited neuromuscular disorders, including antisense oligonucleotides and gene therapy.
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