Dr. Ciafaloni is a Professor of Neurology and Pediatrics who specializes in the diagnosis and treatment of Neuromuscular Diseases in adults and children. She is the Co-Director of the MDA Neuromuscular Clinic and Program Director of the ACGME Accredited Neuromuscular Medicine Fellowship Program. She graduated from Medical School at the Universita’ Statale di Milano, in Milano, Italy in 1989. She trained at Columbia University in mitochondrial diseases, then at Duke University where she completed her Neurology Residency and Neuromuscular/EMG Fellowships. She has been on the Neurology Faculty at URMC since 2002.

Her current commitments include 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.

Representative Publications:

Parent Perceptions in Choosing Treatment for Infants With Spinal Muscular Atrophy Diagnosed Through Newborn Screening

Time Is Muscle: A Recommendation for Early Treatment for Preterm Infants With Spinal Muscular Atrophy

The Spinal Muscular Atrophy Health Index: A Novel Outcome for Measuring How a Patient Feels and Functions

Implementation of Population-Based Newborn Screening Reveals Low Incidence of Spinal Muscular Atrophy

Spinal Muscular Atrophy Care in the COVID-19 Pandemic Era

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