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Healthcare Providers

Edward Clinton Smith, MD

Healthcare Provider
Associate Professor of Pediatrics and Neurology
Duke University School of Medicine
3000 Erwin Road
Durham, North Carolina, United States

Edward C. Smith co-directs 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”.

Dr. Smith’s clinical research interests focus on neuromuscular diseases. He is actively involved in clinical trials for spinal muscular atrophy (SMA) and follows over 40 SMA patients in his clinic. He also directs a clinic in collaboration with pediatric plastic surgery, orthopedics and occupational therapy to treat children with birth (“obstetric”) brachial plexopathies.

Dr. Smith is also actively involved in clinical trials in the area of myopathies such as Duchenne muscular dystrophy (DMD), myotonic dystrophy and facioscapulohumeral muscular dystrophy (FSHD).

Since February 2015, Dr. Smith is involved in the delivery of multidisciplinary neuromuscular care for patients in the Duke Children’s Neuromuscular Program. This includes coordinated care from specialists such as a pediatric neuromuscular specialist, pediatric pulmonologist, pediatric cardiologist, physical and occupational therapists, a nutritionist, a social worker and a medical equipment vendor.

 

Representative Publications:

Ataluren treatment of patients with nonsense mutation dystrophinopathy

Novel Rod Domain Duplication in Dystrophin Resulting in X-Linked Dilated Cardiomyopathy

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases

Pseudometabolic presentation of dystrophinopathy due to a missense mutation

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