Cutting edge gene therapies are revolutionizing the field of neuromuscular medicine. Until very recently, there were no disease modifying therapies, and the progressive nature of these disorders led to typical trajectories of declining strength and function, ultimately being fatal without life supportive measures. Novel gene therapies are changing this trajectory with promisingly positive results. These gene therapies have shown positive clinical data in treating potentially fatal neuromuscular conditions like Spinal muscular dystrophy (SMA) and Duchenne muscular dystrophy (DMD). However there are many challenges including cost of drug and side effects from a live viral vector. SMA the first neuromuscular disorders with an approved gene therapy that was shown to be safe and effective. The dramatic response in the most severe types of SMA patients is extremely encouraging, showing ventilator free survival, normal motor milestones, independent feeding and acquiring speech. Gene therapy for DMD is more recent and has shown increased dystrophin expression and improved motor scores. Availability of life saving therapies, which are often time sensitive, makes early diagnosis even more pressing. Newborn screening is a great avenue for diagnosing these conditions pre-symptomatically and leading to best outcomes.  Even though these are only a few examples of potential gene therapy targets, they are very relevant as they open up a whole new avenue for development of gene therapies for fatal neuromuscular disorders in order to provide lifesaving therapy

Geetanjali Rathore, MD, FAAN is a Professor of Pediatrics and Division Chief of Pediatric Neurology. Dr. Rathore did her pediatric neurology fellowship from Baylor College of Medicine/Texas children hospital and is triple board certified in Pediatrics/Child Neurology and Epilepsy. She is the director of the comprehensive Neuromuscular clinic and has published more than 25 papers in reputed journals. She is associate editor for Child Neurology and serves as an editorial board member of many international Journals. She is also a board member of the International Child Neurology foundation and Association of Indian neurologists in America.