Pediatric Neuromuscular Disease

Care for Children with Duchenne Muscular Dystrophy (DMD), Spinal Muscular Atrophy (SMA), and More

Children with neuromuscular diseases, such as Duchenne muscular dystrophy and spinal muscular atrophy, have varied needs that change with age and disease progression. In addition to strength and mobility problems, children can develop lung, heart, skeletal, digestive, and cognitive conditions. Duke offers comprehensive care to treat these conditions and help maintain your child’s level of motor function as long as possible. We help children reach their full potential at home, in school, and in the community.

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What Are Neuromuscular Diseases?

Neuromuscular diseases include hundreds of different disorders that affect the nervous system and cause progressive muscle weakness. Many of them are caused by changes in the genetic code that affect how the nerves and muscles function. Two of the most prevalent types of pediatric neuromuscular diseases are Duchenne muscular dystrophy and spinal muscular atrophy.

Duchenne Muscular Dystrophy (DMD)

Duchenne muscular dystrophy is the most common and most severe form of muscular dystrophy. People with DMD cannot make a specific type of protein that strengthens and protects muscles. This leads to muscle weakness, balance issues, and other serious health problems.

Spinal Muscular Atrophy (SMA)

Spinal muscular atrophy is a rare, potentially life-threatening disease that leaves many children unable to walk, eat by mouth, or breathe independently. People with SMA are unable to make a protein that supports nerves that control muscle movement.

Types of Neuromuscular Diseases We Treat:

Duchenne muscular dystrophy (DMD) and other muscular dystrophies
Spinal muscular atrophy (SMA)
Charcot-Marie-Tooth disease (CMT)
Congenital myopathies
Limb girdle muscular dystrophy (LGMD)
Myotonic dystrophy
Facioscapulohumeral muscular dystrophy (FSHD)
Congenital myasthenia syndrome (CMS)
Myasthenia gravis
Mitochondrial disorders

Our Approach to Care

At Duke, because neuromuscular diseases can affect so many body systems, we personalize your child’s care. We intervene early with babies, helping them with vital functions such as breathing and swallowing, and follow them as they grow. We partner with families to align treatments with your values and goals.

For your convenience, the majority of your child’s care is all in one place -- on one floor -- at Duke's Lenox Baker Children’s Hospital, which features attached parking and an entrance ramp. We also schedule your child’s appointments on the same day whenever possible, to minimize the inconvenience of multiple trips.

Our Locations

Lenox Baker Children's Hospital is our primary location. You may have appointments at several other Duke clinics.

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Tests for Pediatric Neuromuscular Disorders

Evaluating your child for neuromuscular disease includes a complete medical and family history and physical exam to check muscle strength. Additional tests may include:

Blood Tests

These tests identify abnormal genes and detect and measure certain proteins in the blood that are common in some neuromuscular diseases.

Muscle Biopsy

While your child is under general anesthesia, a doctor removes a small piece of muscle -- about the size of a small pencil eraser -- using a needle, and then examines the sample under a microscope. These are rarely needed.

Electromyogram (EMG)

A thin needle electrode is inserted into a muscle to measure the electrical activity of muscles at rest and when contracted. This can provide helpful diagnostic information, such as whether your child’s weakness is due to muscle (myopathy) or nerve (neuropathy) dysfunction. Your child will not be sedated and will feel mild discomfort, but you will be with your child for the entire procedure. These are also rarely needed.

Nerve Conduction Test

Electrodes are placed on the skin and measure the ability of nerves to send electrical impulses to a muscle. This can identify nerve damage. Your child should feel little to no discomfort or pain.

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Treatment and Ongoing Care

There is currently no cure for neuromuscular diseases; treatment targets your child’s specific symptoms to slow disease progression and improve quality of life.

Neurology Care

Our team of specialists is led by a pediatric neuromuscular specialist, a neurologist with additional training and expertise in neuromuscular medicine. The neuromuscular specialist provides education about your child's condition, as well as relevant clinical research, and determines the appropriate care plan.

Medications

Our team stays current with advancements in new and improved medicines for neuromuscular diseases. For many disorders, treatments aim to slow muscle damage and weakness progression. We carefully monitor your child and recommend the right time to start or stop medication.

Physical and Occupational Therapy

Physical therapy and occupational therapy can improve range of motion and help maintain your child’s strength, mobility, and independence. Our therapy evaluations and treatments take place in a gym -- not an exam room -- with ample room to play. High school and medical student volunteers often assist with gym play to make it more fun and provide social interaction.

Orthotics and Assistive Devices

When appropriate, we recommend and train your child to use walking braces and mobility devices -- such as walkers, wheelchairs, and scooters -- to help maintain independence. We also introduce a variety of assistive technologies and assistive communication devices (for example, iPad apps) to keep your child engaged and connected with others.

Pulmonary Care

Our pediatric pulmonologist performs pulmonary function testing to identify weakness in the muscles that help your child breathe. Treatments may include a cough assist machine, a noninvasive breathing support device (CPAP or BiPAP), or a ventilator in more severe cases.

Cardiology Care

The team’s pediatric cardiologist looks for signs of heart muscle weakness and deterioration using electrocardiography, heart ultrasound, and heart MRI testing and may recommend cardiac medications.

Quality of Life Care

Our palliative medicine specialists are always working to improve your child’s quality of life. In addition to helping you and your child understand a neuromuscular diagnosis and cope with the realities of living with a chronic disease, our team guides you through setting treatment goals and other care decisions.

Surgery

As your child grows and develops, your doctor may recommend surgery for complications, such as problems with the bones and joints or the digestive system. If your child needs surgery, you can be confident in Duke Children’s, which has been verified as a Level I Children's Surgery Center by the American College of Surgeons. This designation recognizes our commitment to providing the safest and highest-quality surgical care to our young patients.

Disease Monitoring

Ongoing monitoring helps us identify early signs of problems that are common in children with neuromuscular diseases. We coordinate care with the right specialists, and we adjust your child’s care for the highest possible physical, psychological, and social well-being. We often monitor children into young adulthood.

Related Treatments

Family and Support Services

We know how caring for a child with a neuromuscular disease can change the family dynamic. We are here to answer your questions and make your time at Duke as easy and comfortable as possible.

Our nurse care coordinator and social worker help you navigate the medical system and coordinate the variety of health services your child needs. They can help you work with insurance providers, find resources, and manage the details related to your child’s care. Our social worker can help your family adjust to a neuromuscular diagnosis, monitor your child’s behavioral and developmental health, connect you with community support, and advocate with schools regarding modifications for your child.

Consistently Ranked Among the Nation's Best Children's Hospitals

Duke Children's Hospital & Health Center is proud to be nationally ranked in 10 pediatric specialties.

Why Choose Duke

Nationally Recognized for Superior Care

Duchenne muscular dystrophy: The Parent Project Muscular Dystrophy (PMDD) organization recognizes Duke as a Certified Duchenne Care Center for meeting the highest standards in Duchenne muscular dystrophy treatment and subspecialty services. PMDD also awarded Duke a Clinical Research Designation for our commitment to advancing Duchenne research.
Spinal muscular atrophy: Duke has been designated a CureSMA Care Center for both pediatrics and adults. These centers work to advance SMA care and improve the lives of people with SMA.
Charcot-Marie Tooth disease: Duke has been named a Center of Excellence by the Charcot-Marie-Tooth Association (CMTA), recognizing our high-quality care and multidisciplinary team.

Involved in the Latest Research

We participate in the latest pediatric neuromuscular disease research. This includes studying lesser-known conditions like facioscapulohumeral muscular dystrophy as part of the FSHD Clinical Trial Research Network. In addition, as a member of the Cooperative International Neuromuscular Research Group, we work with doctors and scientists throughout the United States and around the world who are studying neuromuscular diseases.

Access to New Therapies and Trials

As a Duke patient, your child may be eligible to participate in clinical trials, giving them early access to innovative therapies while helping advance care for other children with their condition.

This page was medically reviewed on 06/16/2026 by

Natalie Katz, MD, PhD | Pediatric Neurologist