Our Services

The program offers comprehensive diagnostic evaluations by a fellowship-trained and board-certified pediatric neuromuscular specialist and a neuromuscular geneticist, both with experience in pediatric neuromuscular diseases. State-of-the-art, comprehensive genetic testing, muscle biopsy, pediatric EMG (with or without sedation), and other diagnostic tools are available. We are the only center in the state that offers sedated pediatric EMG. Basic diagnostic imaging, pulmonary function tests, and echocardiography occur on-site. Cardiac MRI is available for our patients on the main campus. The state-of-the-art sleep laboratory is run by our pediatric pulmonologist.

The program believes in a holistic and customized approach to caring for patients with various neuromuscular disorders. The program is located at Yale New Haven Children’s Hospital’s Pediatric Specialty Center at One Long Wharf Drive, which is a short drive from Yale New Haven Hospital and has ample free parking and easy access for impaired individuals.

The program is recognized as an SMA (Spinal Muscular Atrophy) Care Center by CureSMA and offers all three FDA-approved treatments for SMA (Spinraza®, Zolgensma®, and Evrysdi®). A well-established Spinraza program runs in collaboration with Dr. Michele Johnson of Yale Interventional Radiology and is coordinated by Louise Lanouette, RN. We are the only center in Connecticut that provides access to Spinraza to patients of all ages.

The program is also recognized as a Certified Duchenne Care Center by Parent Project Muscular Dystrophy (PPMD). We provide access to all FDA-approved treatments for Duchenne Muscular Dystrophy and other neuromuscular disorders, including gene therapy.

The program participates in several clinical trials for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.

Email: Yalepedineuromuscular@yale.edu

Tel: (203) 785-4081