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Muscular Dystrophy

Our Muscular Dystrophy Program is a designed MDA Care Center and one of only thirteen certified Duchenne Care Centers in the country. We offer children and families coordinated care for the diagnosis and treatment of muscular dystrophy and other pediatric neuromuscular disorders. The program is supported in part by the Muscular Dystrophy Association and is offered at Yale New Haven Children's Hospital Pediatric Specialty Center at Long Wharf in New Haven. The multidisciplinary team includes a neurologist, cardiologist, pulmonologist, orthopedic surgeon, physical and occupational therapist, social worker, dietitian, a care coordinator and other specialists as needed such as genetics.

Neuromuscular Diagnoses Treated:

  • Becker's muscular dystrophy
  • Duchenne muscular dystrophy
  • Emery-Dreifuss muscular dystrophy
  • Facioscapulohumeral muscular dystrophy
  • Limb-girdle muscular dystrophy
  • Spinal muscular atrophy (SMA)
  • Myotonia congenita
  • Myotonic dystrophy
  • Charcot Marie Tooth disease (hereditary sensory motor neuropathy)

At the Pediatric Muscular Dystrophy Program, children are evaluated for sensation, muscle tone, range of motion, strength, gait and balance. Tests may include:

  • Electrocardiography (ECG)
  • Electromyography (EMG)
  • Pulmonary function tests
  • Serum CPK
  • Polysomnograms (overnight sleep study)

Kids with MD get their care in one visit

Ever since 9-year-old Katie was diagnosed with spinal muscular atrophy at 18 months, her parents have made sacrifices to get her the best care. They got her a CPAP machine to treat her sleep apnea and a power wheelchair. They've rushed Katie to the emergency room, sat by her after multiple surgeries, and monitored her for pneumonia.

When a new Pediatric Muscular Dystrophy Program opened in New Haven last year, it cut down on time and stress related to doctor visits, says Katie's father, who drives from Mystic for appointments. "The doctors all pretty much work together, so we can set up appointments for the same day," he says.

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