Neuromuscular diseases: Therapies on the horizon

Abstract

Many types of mutations underlie motor neuron disease (MND) including repeat expansions, loss of function and missense mutations. This spectrum of disorders has heralded in a new era of genetic therapies in neuromuscular disease. New major treatment strategies in neuromuscular disorders include the use of antisense oligonucleotides (ASOs), exon-skipping ASO applications, RNA interference therapy (RNAi), genome editing technology, gene and enzyme replacement therapy. In MND, the most common current approach is the use of ASOs to eliminate protein expression and are used to block pathogenic mutations.