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From Medscape Education Neurology & Neurosurgery

Rare Pediatric Disease Learning Center: A Focus on Muscular Dystrophies

About This Series

Muscular dystrophy represents a constellation of different disease states defined by progressive muscle weakness and typically caused by specific gene mutations. Duchenne muscular dystrophy (DMD) is caused by a genetic mutation in the dystrophin gene, which leads to a defect in production of dystrophin. Limb-girdle muscular dystrophy (LGMD) consists of a collection of more than 30 heterogeneous neuromuscular diseases from a similar number of different genetic mutations. Because these diseases have overlapping symptoms in many cases, appropriate testing is needed to provide the correct diagnosis in order to utilize the most appropriate therapies. As more targeted RNA and gene-based therapeutics become clinically available, there is a need to provide educational resources on timely diagnosis, clinical data on emerging therapies, and recommendations for how newer therapies can be used in practice.