The Comprehensive Neuromuscular Center treats a variety of pediatric neuromuscular disorders, the most common being Duchenne muscular dystrophy (DMD). DMD is characterized by a genetic mutation resulting in a lack of dystrophin in the muscle tissue, which affects approximately one in 3,300 live male births.
The second most commonly treated neuromuscular disorder is spinal muscular atrophy (SMA). SMA is a genetic disease characterized by progressive loss of motor neurons in the spinal cord, resulting in muscle weakness and atrophy. This disease affects approximately one in 6,000 live births.
Other neuromuscular disorders treated include:
- Becker muscular dystrophy
- Charcot-Marie-Tooth disease / hereditary motor-sensory neuropathies
- Congenital myasthenic syndrome
- Congenital muscular dystrophy
- Congenital myopathies
- Friedreich’s ataxia
- Inflammatory neuropathies (acute and chronic)
- Limb-girdle muscular dystrophy
- Muscular dystrophies (not otherwise specified)
- Metabolic myopathies
- Myasthenia gravis
- Myotonic dystrophy
- Periodic paralysis