Edward Clinton Smith
Professor of Pediatrics

My clinical research interests focus on neuromuscular diseases . Neuromuscular diseases are a large group of disorders with various causes sharing one common feature: weakness.

One large group of neuromuscular diseases is caused by abnormalities in the nerves as they exit the brain stem and spinal cord and travel out to their respective muscles. These are called “neuropathies.” Common examples in this group include spinal muscular atrophy (SMA), Charcot-Marie-Tooth disease (CMT) and brachial plexus injuries.  I am actively involved in clinical trials for SMA and follow over 40 SMA patients in my clinic.   I also direct a clinic in collaboration with pediatric plastic surgery, orthopedics and occupational therapy to treat children with birth ("obstetric") brachial  plexopathies.

Another large group of neuromuscular diseases, the “myopathies” , are caused by abnormalities in the muscle tissue. Some of the more common examples include Duchenne muscular dystrophy (DMD), myotonic dystrophy and facioscapulohumeral muscular dystrophy (FSHD). I am actively involved in clinical trials in this area and co-direct the Duke Children's Neuromuscular Program which was designated by Parent Project Muscular Dystrophy (PPMD) in June of 2015 as a "Certified Duchenne Care Center".

Less commonly, neuromuscular weakness is due to disorders of neuromuscular transmission. These are caused by abnormalities in the region where the nerve attaches to the muscle. Examples of disorders of neuromuscular transmission include myasthenia gravis and c ongenital myasthenic syndrome .

Since February 2015, we have offered multidisciplinary neuromuscular care for our patients in the Duke Children's Neuromuscular Program. This includes coordinated care from a pediatric neuromuscular specialist, pediatric pulmonologist, pediatric cardiologist, physical and occupational therapists, a nutritionist, a social worker and a medical equipment vendor - all in one location (Lenox Baker Children's Hospital). We also work closely with a pediatric endocrinologist, orthopedic surgeon, and a pediatric gastroenterologist, all with neuromuscular expertise. Genetic counseling services are also available.

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