Durham, NC 27710
General child neurology with special interest in neuromuscular disorders, brachial plexus injuries, cerebral palsy
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.
This faculty member has no reported relationships with industry.
Steele, SU; Cheah, SM; Veerapandiyan, A; Gallentine, W; Smith, EC; Mikati, MA. Electroencephalographic and seizure manifestations in two patients with folate receptor autoimmune antibody-mediated primary cerebral folate deficiency. Epilepsy and Behavior. 2012;24:507-512. (2012) Abstract
Harreld, JH; Smith, EC; Prose, NS; Puri, PK; Barboriak, DP. Trichothiodystrophy with dysmyelination and central osteosclerosis. American Journal of Neuroradiology. 2010;31:129-130. (2010) Abstract