The UF Health Center of Pediatric Neuromuscular and Rare Diseases is a multidisciplinary program between cardiology, neurology, pulmonology and occupational and physical therapies. Because progressive weakness of the patients seen here results in coughing and difficulty breathing, the pediatric pulmonary component is essential, as treatment for lung complications becomes necessary. The program sees patients weekly at UF Health Pediatric Specialties – Medical Plaza.
Central to the program is the relationship with the Muscular Dystrophy Association. Gene mutations have been identified for multiple neuromuscular disorders, and treatments are being developed for muscular dystrophy, spinal muscular atrophy, and Pompe disease, among others. These treatments include RNA-targeted therapies, enzyme replacement and gene therapy. Multiple research studies in these areas are conducted at this practice.