Physicians

Departments / Divisions

• Pediatrics / Pediatrics-Neurology
• Medicine / Medicine-Neurology

Address
DUMC 3936
Durham, NC 27710

Appointment Telephone
919-668-0477

Office Telephone
919-668-0477

Fax Telephone
919-681-8943

Training

• MD, University of Mississippi School of Medicine, 2002

Residency

• Pediatrics, University of Mississippi Medical Center, 2002-2004
• Pediatric Neurology, Duke University Medical Center, 2004-2007

Fellowship

• Neuromuscular Medicine, Duke University Medical Center, 2007-present

Clinical Interests
General child neurology with special interest in neuromuscular disorders, brachial plexus injuries, cerebral palsy

Research Interests
My clinical research interests focus on neuromuscular disorders. 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. We recently participated in an international clinical trial to determine the safety of valproic acid in infants with Type 1 SMA. I have started a multidisciplinary clinic recently in collaboration with pediatric neurosurgery and orthopedics to more systematically treat and follow children with birth 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 and myotonic dystrophy. I recently participated in a clinical trial for boys with Duchenne and Becker muscular dystrophy to determine the efficacy of a new compound called PTC124. I also plan on participating in another Duchenne trial in 2012 involving a new genetic technology call "exon skipping" which can partially repair gene mutations.    

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

In addition to neuromuscular disorders, I have a strong interest in the management of cerebral palsy and spasticity. This can involve treatment with oral medications as well as EMG-guided chemodenervation ("Botox injections") and intrathecal baclofen therapy.

Industry Relationships and Collaborations (What's this?)

This physician has no reported relationships with industry.

Representative Publications
Smith EC, El-Gharbawy A, Koeberl D. Metabolic myopathies: clinical features and diagnostic approach. Rheum Dis Clin N Amer 2011;37:201-217. (2011)

Selcen D, Juel V, Hobson-Webb L, Smith EC, Stickler D, Bite A, Ohno K, Engel A. Myasthenic syndrome caused by plectinopathy. Neurology 2011;76:327-336. (2011)

Shea K, Hoang J, Smith EC. Ischemic stroke because of intracranial fibromuscular dysplasia. Pediatric Neurology 2011;44(3):214-217. (2011)

Veerapandiyan A, Winchester S, Gallentine W, Smith EC, Kansagra S, Hyland K, Mikati M. Electroencephalographic and seizure manifestations of pyridoxal 5′-phosphate-dependent epilepsy. Epilepsy & Behavior 2011;20:494-501. (2011)

Chemla JC, Kanter RJ, Carboni MP, Smith EC. Two children with ”dropped head” syndrome due to lamin A/C mutations. Muscle and Nerve 2010;42:839-841. (2010)

Harreld JH, Smith EC, Prose NS, Puri PK, Barboriak DP. Trichothiodystrophy with dysmyelination and central osteosclerosis.  AJNR Am J Neuroradiol.  2010 Jan;31(1):129-30. (2010) Abstract

Veerapandiyan A, Shashi V, Yong-Hui J, Gallentine WB, Schoch K, Smith EC. Pseudometabolic presentation of dystrophinopathy due to a novel missense mutation. Muscle and Nerve 2010;42:975-979. (2010)

Smith E, Koeberl D. Myopathy: presentation and evaluation of metabolic causes. Rheumatologist 2009;3(7). (2009)

Hoang JK, Smith EC, Barboriak DP. Ruptured maxillary retention cyst: cause of unilateral rhinorrhea after trauma. Am J Neuroradiol 2009;30:1121-1122. (2009)