COVID-19 Update:Learn more about how we are protecting our patients, families and staff, as well as other important facts about COVID-19.
Neuromuscular Medicine Program
Combining Compassionate Care with Expertise
The Neuromuscular Medicine Program at Children’s National Hospital leverages the expertise of an interdisciplinary team, cutting-edge research and innovative technologies to care for a wide range of neuromuscular conditions.
Meet our team
The Neuromuscular Medicine Program at Children’s National Hospital provides expert comprehensive and compassionate care for the evaluation, management and treatment of infants, children and teenagers with neuromuscular conditions. As one of the largest referral sites for children for neuromuscular care and treatment in the Washington, D.C., region, our program leverages the expertise of our specialists to provide highly coordinated care that emphasizes improving your child’s quality of life and health.
Our detailed diagnostic testing and expert care team allows for personalized care for your child, whether they are in the early stages of diagnosis or under long-term care for rare diseases.
Choosing Children’s National for Pediatric Neuromuscular Care
Neuromuscular diseases frequently lead to some form of weakness or abnormal motor development. These can be disorders that affect the motor neurons, nerves, muscles or the communication between nerves and muscles (neuromuscular junction). Since neuromuscular disorders frequently cause muscle weakness, children affected by neuromuscular disease require multidisciplinary care aimed at maintaining general health, promoting growth and development and optimizing functional activities.
This journey may begin for some families with a prenatal diagnosis or for parents who are identified as carriers for a hereditary neuromuscular disease, to babies identified by newborn screening with particular conditions and to those infants or children who come to our clinic after onset of symptoms. In all cases, we are here for your child and your family to provide in depth and up to date guidance, support, care and treatment.
What Our Program Offers
Children’s National Hospital has consistently been named one of the top children’s hospitals ranked by U.S. News & World Report. Our team consists of nationally and internationally recognized team members actively involved in leading research, advocacy and clinical education. Our Neuromuscular Medicine Program has received a number of national recognitions including:
We’re dedicated to giving your child the highest quality of life in and out of a clinical setting. In our comprehensive Neuromuscular Medicine Program, we offer support for social, educational and emotional difficulties that often accompany neuromuscular conditions. Our specialists are nationally recognized leaders in care, bringing high quality and cutting edge diagnostics, research and treatment approaches to improve the care for your child.
Several specialists from our program may see your child on the same day in a multidisciplinary clinic, minimizing the burden of multiple appointments for families and emphasizing a coordinated care model approach. These specialists may include:
- Physical therapist
- Occupational therapist
- Bone health specialist
- Social worker
- Genetic counselor
- Research coordinator
- Clinical program coordinator
- Patient-family advisor/advocate
In a detailed evaluation, our experts in Neuromuscular Neurology look for signs and symptoms suggestive of a neuromuscular disease in your child, and tailor the diagnostic workup and treatment plans specially for each child. Your visit may also include evaluation with a genetic counselor with expertise in neuromuscular disorders. Among our detailed diagnostics tests are:
- Electrodiagnostics (EMG and nerve conduction study)
- Genetic testing
- Muscle ultrasound
- Serologic (blood) testing
- Skin, muscle or nerve biopsies
Patients who remain undiagnosed despite thorough evaluations may also benefit from input from world renowned neuromuscular experts from the National Institutes of Health who participate in the Children’s National Neuromuscular Undiagnosed Disease Clinic.
Children's National Hospital has been actively involved in clinical and basic science or laboratory research and the Center for Genetic Medicine Research has led groundbreaking research in neuromuscular medicine. Our team utilizes up to date standard of care practices for various neuromuscular disorders, combined with expedited initiation of therapies, which may include:
- Spinraza™, ZOLGENSMA® and Evrysdi™ for spinal muscular atrophy; and
- Exondys 51, VYONDYS 53, AMONDYS 45™ and EMFLAZA® for Duchenne muscular dystrophy.
Additional disease specific therapies are used to treat conditions such as myasthenia gravis, congenital myasthenic syndrome, Pompe disease, Guillan Barre Syndrome/CIDP, infantile botulism and myotonic disorders.
Our team members participate with our patients in the Muscular Dystrophy Association summer camp and we also collaborate with MedStar National Rehabilitation Hospital to provide an adaptive sports camp. In addition, members of our team are involved with teen and young adult support groups in the community for those with neuromuscular disease.
More About the Neuromuscular Medicine Program
To expedite evaluation, diagnosis and treatment, our specialists operate three clinics:
- The Neuromuscular Clinic is the gateway to our program. Specialists review medical histories and perform detailed clinical exams. Additional blood work, muscle ultrasound or MRI (magnetic resonance imaging), muscle biopsy, nerve conduction studies, electromyograms and genetic testing may follow to determine an underlying diagnosis.
- The Muscular Dystrophy Association (MDA) Care Center is a one-stop clinic featuring interdisciplinary care for neuromuscular diseases. In a single visit, children diagnosed with muscular dystrophies are attended to by experts in neurology, rehabilitation medicine, pulmonary medicine, cardiology, genetics, bone health, nutrition, physical and occupational therapy and social work. Team members throughout our program are also engaged in ongoing research.
- The Diagnostic Clinic specializes in diagnosis and treatment of rare and unique neuromuscular disorders. This clinic benefits from close collaboration with experts from the National Institutes of Health.
Our Neuromuscular Program offers the following services:
- Comprehensive clinical evaluations
- Genetic counseling: We provide in depth and compassionate genetic counseling and testing ranging from personalized sequencing panels tailored to your child’s symptoms to broad testing such as whole exome sequencing approaches
We also offer treatments and diagnostic testing such as:
- Braces, splints, Angel Arms and WREX
- Leading-edge medications like Spinraza™ and ZOLGENSMA®, new therapies for spinal muscular atrophy, and Exondys 51 to treat Duchenne muscular dystrophy
- Nutrition counseling
- Physical therapy
- Positioning aids to help children sit, stand or lie down
- Psychological counseling
- Speech and swallowing therapy
- Electrodiagnostics (EMG)/nerve conduction studies
- Muscle ultrasound
- Skin and muscle biopsy
- Genetic testing (eg: next generation sequencing and whole exome sequencing)
- Serologic testing (blood testing)
- Augmentative communications
- Surgical interventions
- Pulmonary function studies
- Echocardiogram/cardiac MRI
- Durable medical equipment
- Occupational therapy
Conditions We Treat
From metabolic diseases to muscular dystrophies, our team treats a wide range of neuromuscular conditions in children.
Seeing the Signs
Learn about the warning signs of neuromuscular disease so your child can have the earliest intervention possible.
Please call our program coordinator at 202-476-6193 or new patient scheduling line at 202-476-3611 to schedule an appointment or for more information.
Referring providers can contact us at 202-476-6193 or via email to Kathleen Smart.
Neuromuscular Medicine Program Team
Diana Bharucha Goebel
Nurse Practitioner, Stroke
Olivia De Jong
Physician AssistantBone Health, General Pediatric Orthopaedics and Orthopaedic Trauma Specialist
Associate Director, Cardiology Fellowship Training Program
Associate Chief, Division of Orthopaedic Surgery and Sports Medicine Spine, Cerebral Palsy and Orthopaedic Trauma Specialist
Director, Bone Health Program
Rare Bone Disease, Bone Health and Orthopaedic Trauma Specialist
Physical Medicine and Rehabilitation Specialist
Mi Ran Shin
Associate Fellowship Program Director, Rehabilitation Medicine
Pediatric Rehabilitation Specialist
Clinical Social Worker
Program Coordinator, Neuromuscular Medicine Program
Program Coordinator, Neuromuscular Medicine Program, Muscular Dystrophy Association Care Center and Spinraza Program