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Neuromuscular Program


The Neuromuscular Program at Children's National Medical Center specializes in the diagnosis and treatment of children, teens and young adults with neuromuscular disorders. Each year, we care for more than 800 patients from the United States and around the world.

The diagnosis and treatment of children with neuromuscular diseases can be difficult. Children’s multidisciplinary team has the expertise to recognize these conditions in children and ensure a timely, accurate diagnosis. We provide comprehensive clinical evaluations, coordinate diagnostic testing, implement ongoing treatment, and provide genetic counseling where appropriate.

The program includes the Neuromuscular Clinic, the Muscular Dystrophy Association Clinic and the Electromyography (EMG) Laboratory. The program staff includes specialists from neurology, physical medicine and rehabilitation, genetics, pulmonary medicine, physical therapy and social work — all of the necessary specialists, all in one place. We also work together with Children’s Divisions of Orthopedics and Cardiology to provide same day evaluation when needed.

Specialized Care
General concerns that we evaluate include:
  • Delay in acquiring motor skills
  • Joint contractures, changes in joint structures (arthrogryposis)
  • Low muscle tone (hypotonia, "floppy infant")
  • Weakness
  • Recurrent Rhabdomyolisis (a condition affecting muscle cells)
The Neuromuscular Clinic focuses on patients with peripheral neuropathies (nerve disorders), disorders of the nerve-muscle junction, and disorders of muscle. The Muscular Dystrophy Association (MDA) Clinic, sponsored by the Muscular Dystrophy Association, addresses 40 disorders, including dystrophies and hereditary neuropathies. The EMG Laboratory performs electrodiagnostic testing, a type of nerve test, to help diagnose these conditions.

The program coordinates care for patients with the following conditions:

Muscle Disorders
  • Muscular dystrophies such as
    • Duchenne, Becker
    • Limb-Girdle
    • Congenital MD’s
    • FSH (Facioscapulohumeral muscular dystrophy or FSHD)
    • Myotonic Dystrophy
  • Congenital myopathies
  • Acquired myopathies (polymyositis, dermatomyositis)
Motor Neuron Diseases
  • SMA
  • Juvenile ALS
Neuromuscular Junction Diseases
  • Myasthenia Gravis
  • Congenital Myasthenic Syndromes
Peripheral Nerve Diseases
  • Charcot-Marie-Tooth Disease, Dejerine-Sottas Disease, and Friedreich's Ataxia
  • Acquired neuropathies and polyneuropathies: (GBS, CIDP)
Metabolic Diseases
  • Mitochondrial myopathies, McArdle's Disease, Pompe's Disease, Phosphofructokinase Disease (Tarui's Disease), Carnitine Palmityl Transferase Deficiency

Our team is committed to providing the most current, comprehensive and specialized care possible. Recognized by the Foundation to Erradicate Duchenne, FightSMA, Parent Project Muscular Dystrophy, Cure CMDM and the Muscular Dystrophy Association, members of the Neuromuscular Program aim for early recognition, preventive care, and treatment to improve patient outcomes and minimize complications associated with these disorders.

Research at Children’s National
Our physicians and scientists are national and international leaders in neuromuscular research. Our researchers, led by Eric Hoffman, MD, and the Cooperative International Research Group (CINRG) conduct leading investigations of the molecular underpinnings of neuromuscular diseases as well as the development of potential treatments. Together they are part of an international effort to raise awareness of neuromuscular disorders.

We are also a site for NeuroNEXT (Network for Excellence in Neuroscience Clinical Trials), which provide a robust, standardized, and accessible infrastructure to facilitate rapid development and implementation of protocols in neurological disorders affecting adult and/or pediatric populations.

To make an appointment with the Neuromuscular Clinic, please call 202-476-2120.

For more specific questions regarding the Neuromuscular Program contact Kathleen Smart at 202-476-6193 or email ksmart@childrensnational.org.

For more information about how to enroll your child in a current clinical trial, speak with a member of your child’s care team or call Donovan Stock at 202-476-2197 or email dstock@childrensnational.org.

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