The Pediatric Muscular Dystrophy Program at Yale-New Haven cares for numerous neuromuscular diagnoses, including:
- 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 MDA 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.
The MDA clinic at Yale-New Haven is supported in part by the Muscular Dystrophy Association, a nonprofit health agency dedicated to curing muscular dystrophy, ALS and related diseases by funding worldwide research, medical and support services, and far-reaching professional and public health education. MDA has more than 200 offices across the country, sponsors more than 200 hospital-affiliated clinics and supports more than 330 research projects around the world.
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