Targeted Treatments for Inherited Neuromuscular Diseases of Childhood

Alex J. Fay, MD, PhD; Renatta Knox, MD, PhD; Erin E. Neil, DO; Jonathan Strober, MD


Semin Neurol. 2020;40(3):335-341. 

In This Article


Just a decade ago, there were a few treatments available to children with inherited diseases of the motor neurons, peripheral nerves, neuromuscular junction, and skeletal muscles. Fortunately, as the availability of genetic testing to diagnose hereditary peripheral nervous system diseases has increased, new therapies have also emerged in the past several years. The possibility of targeted treatments for many neuropathies, congenital myasthenias, congenital myopathies, and limb-girdle muscular dystrophies now seems to be within reach. The underlying technologies for delivering these therapies, including viral gene therapy vectors, ASOs to modify splicing, and induction of site-specific double-strand breaks with CRISPR/Cas9, have a limited track record in humans, and therefore the treating physicians must still approach these exciting developments with some caution. We are only beginning to deal with the implications of these therapies, including early detection and cost. For example, with the advent of targeted effective treatments for SMA, five states (Missouri, Minnesota, New York, Pennsylvania, and Utah) have added SMA to the newborn screen, and several others are in the process. The expense of targeted interventions, with gene therapy for SMA, for example, priced at $2 million per dose, will doubtlessly raise questions about our health care systems' abilities to cover these costs.