Journal of Neurology, Neurosurgery, and Psychiatry - A 2020 Centenary Perspective on Neuromuscular Disorders

Genetic Diagnoses and Gene-Based Therapies Have Transformed Our Approach to Neuromuscular Disorders and Created New Therapies

When JNNP first began publishing articles in 1921 the structure of DNA was unknown, and today we have effective gene-targeted therapies that alter the course of multiple neuromuscular diseases. One year ago, we were challenged to consider the ‘most important or transformative development in neurology’ in the past 100 years and how JNNP contributed to this achievement given its broad scope. To our surprise, no nomination for neuromuscular disorders made the final list. Therefore, we wish to put forth a nomination for neuromuscular disorders. We contend the subspeciality of neuromuscular disorders leads the neurologic community in the most important achievements in the last 100 years: discovering the genetic aetiology of previously untreatable neuromuscular disorders and turning these discoveries into therapies.