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Healthcare Providers

Emma Ciafolini, MD

Healthcare Provider
Professor of Neurology and Pediatrics
University of Rochester Medical Center
601 Elmwood Avenue, AC-1
Rochester, New York, United States

Dr. Ciafaloni is a Professor of Neurology and Pediatrics and specializes in the diagnosis and treatment of neuromuscular diseases in adults and children. She is also the Co-Director of the MDA Neuromuscular Clinic. She has a clinical research interest in the best treatment of patients with Duchenne Muscular Dystrophy, the course and outcome of pregnancy in women with muscular dystrophies, and sleep disorders in neuromuscular diseases.

Since 2004, she is Chair of the Clinical Research Committee of the Muscular Dystrophy Surveillance Tracking and Research Network (MDSTARnet), a CDC funded project on Becker/Duchenne muscular dystrophy.

She has been involved in clinical care, research, education and advocacy related to neuromuscular diseases for the past 15 years and is committed in improving the diagnosis and treatment of adult and pediatric patients with neuromuscular diseases, especially Duchenne Muscular Dystrophy, myasthenia gravis, ALS, limb girdle muscular dystrophies, myotonic dystrophy, FSHD, and spinal muscular atrophy. She has national and international expertise in conducting clinical trials in adult and pediatric neuromuscular diseases including Duchenne Muscular Dystrophy.

 

Representative Publications:

Application of the International Classification of Functioning, Disability and Health system to symptoms of the Duchenne and Becker muscular dystrophies

A checklist for clinical trials in rare disease: obstacles and anticipatory actions-lessons learned from the FOR-DMD trial

Delayed onset of ambulation in boys with Duchenne muscular dystrophy: Potential use as an endpoint in clinical trials

Developing standardized corticosteroid treatment for Duchenne muscular dystrophy

Newborn screening for Duchenne muscular dystrophy in China: follow-up diagnosis and subsequent treatment

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