Neuromuscular Disorders Program

A neuromuscular disorder can be challenging for your child and family. At Cook Children's, we offer solutions to help kids reach their fullest potential.

Led by experienced neurologists, our Neuromuscular Disorders Program provides advanced testing and treatment. Our team offers one-on-one support and includes neurological, developmental and behavioral experts. We partner with other specialists across Cook Children's to meet your child's unique needs.

Together, we provide exceptional medical care and extra attention to make life easier for you and your child.

Choosing Cook Children's Neuromuscular Disorders Program

When your child needs specialized treatment, only the very best will do. Every day, we go above and beyond for kids and families.

Our Neuromuscular Disorders Program is part of the Jane and John Justin Institute for Mind Health and features:

Specialized clinic: We've been named a leading care center for neuromuscular disorders by the Muscular Dystrophy Association. At our neuromuscular clinic, we bring together a mix of team members to help children with all their needs. Besides our skilled neurologists, your child may see a social worker, orthotics expert or physical therapist. Neuromuscular disorders can also affect the heart, lungs and other body areas. We make it easy to see the other doctors your child may need.
Convenient services: We offer virtual appointments if you live far away or otherwise have a hard time traveling. When your child does see us in person, we try to schedule visits with several team members on the same day. We can also help your child receive some services, such as physical therapy or medication infusions, close to home.
Leading-edge care: We offer the latest diagnostic tests and treatments. Families across the region and beyond come for accurate diagnoses and innovative therapies. New treatments include gene therapy for Duchenne muscular dystrophy and gene therapy for spinal muscular atrophy.
Smooth transitions to adult neurology: Moving care to an adult neurologist can feel stressful. Our team helps you find the right specialist and takes time to prepare you and your child. We also coordinate with your child's new doctor to ensure a smooth transition.

What are neuromuscular disorders?

Neuromuscular disorders affect muscles and the peripheral nervous system — the nerves outside the brain and spinal cord.

Many neuromuscular disorders are caused by changes in the genes (DNA) that control how muscles and nerves develop and work. These genetic differences often run in families. Other neuromuscular disorders come from autoimmune responses. In such cases, your child's immune system attacks the nerves by mistake.

Over time, neuromuscular disorders can make daily life more difficult, including activities such as eating, breathing and moving.

Neuromuscular conditions we treat

The most common neuromuscular disorder we treat is muscular dystrophy. It isn't a single condition but rather a group of diseases caused by genetic changes. The main type of muscular dystrophy is Duchenne muscular dystrophy (DMD). Children usually develop muscle weakness between ages 2 and 3, with boys affected more often than girls.

Other neuromuscular disorders we treat include:

Spinal muscular atrophy (SMA): This genetic disease affects nerve cells in the spinal cord that carry signals to muscles. Early treatment makes a big difference for children with this condition. Most states screen newborns for SMA.
Myasthenia gravis (MG) and congenital myasthenic syndromes (CMS): These diseases affects voluntary muscles (those you can control) in the eyes, face, throat, arms and legs. MG is an autoimmune disease, while CMS is a group of genetic diseases.
Chronic inflammatory demyelinating polyneuropathy (CIDP): CIDP is an autoimmune disease that causes patients to feel weak or numb at times. It's a chronic form of Guillain-Barré syndrome that needs ongoing treatment.

Diagnosing neuromuscular disorders

Signs of muscle weakness in your child are sure to bring up many questions and concerns. Testing is the first step to finding the source of your child's symptoms. By making an accurate diagnosis, we can lessen some of your worries and work with you to make an effective plan.

Tests we use to diagnose neuromuscular disorders include:

Electromyography and nerve conduction studies: We usually perform these two tests together. Electromyography measures electrical activity in muscles to check how they're contracting. Nerve conduction studies see how nerves respond to a small electrical stimulation we apply to your child's skin.
Genetic testing: This test of blood or saliva can find genetic changes that cause many neuromuscular disorders. We work with specialists in our Genetics Center to interpret the results and share them with your family.
Lumbar puncture (spinal tap): This test involves collecting and testing a small sample of the fluid that surrounds your child's spinal cord. A lumbar puncture is not always needed, but can help diagnose some neuromuscular disorders.

Tests can be scary for kids. Our medical teams and child life specialists are experienced in making your child as comfortable as possible. Depending on the type of test and your child's age and maturity, we may recommend safely sedating your child. Learn more about neuroscience testing and diagnosis.

Treating neuromuscular disorders

While doctors can't cure neuromuscular disorders, treatment can improve your child's symptoms and quality of life. Researchers are also finding new treatments to make neuromuscular conditions more manageable to live with.

Your physician will let you know if a new therapy or clinical trial is an option for your child. Our team will also help you overcome any hurdles getting the medications, devices and other treatments your child needs.

Your child's care may include:

Physical therapy:Physical therapy is often a key treatment. It can help your child with muscle strength, coordination and flexibility.
Orthotics:Orthotics are braces that provide support to help your child move better. We also use orthotics to stretch your child's muscles to keep them loose.
Medications: We give a wide range of medications to treat neuromuscular disorders. Medications can help relieve symptoms and reduce the effects of some genetic changes. For autoimmune neuromuscular diseases, we offer immunotherapy drugs. These medications block your child's immune system to prevent it from attacking their nerve cells.
Gene therapy: Gene therapy is a new option for children with Duchenne muscular dystrophy and spinal muscular atrophy. This innovative treatment replaces an affected gene with a working copy.
It can slow the progression of the two conditions.
Surgery: Surgery may be an option to loosen tight tendons or muscles or correct spinal problems. We partner with Cook Children's orthopedics specialists to provide this care.

Learn more about our approach to care in our Muscular Dystrophy Association Clinic.