Neuromuscular Disorders

There are many different types of neuromuscular disorders in children, including motor neuron diseases (such as spinal muscular atrophy), peripheral neuropathies (such as Charcot-Marie-Tooth disease), neuromuscular junction diseases (such as myasthenia gravis), muscular dystrophies, and metabolic and inflammatory processes affecting the muscles.

If your child is being evaluated for, or has already been diagnosed with, a neuromuscular disorder it can be an overwhelming time for the whole family. At Nemours, our goal is simple: To understand the underlying disease process and maximize your child’s strength and function.

Learn More About Neuromuscular Disorders in Children
Types of Neuromuscular Disorders in Children

Neuromuscular disorders in children (also sometimes called “NMDs”) come in many forms, with different symptoms, causes, treatments and long-term outlooks. Some are genetic (inherited) and some are acquired (they develop during childhood). We strive to understand the cause of your child’s motor issues through our expertise and diagnostic tests.

There are several categories of neuromuscular disorders in children, including:

Motor neuron disease (involving the cells that control muscle activity)
  • spinal muscular atrophy (an inherited condition that causes nerve cells in the lower part of the brain and spinal cord to break down)
Peripheral nerve disorders (involving the nerves outside the spinal cord)
  • Charcot-Marie-Tooth (or “CMT”) disease (a group of related conditions, usually inherited, that affect the nerves leading to the lower legs and feet, and lower arms and hands)
  • chronic inflammatory demyelinating polyneuropathy (or “CIDP,” a condition involving damage to the myelin sheath, the covering that surrounds nerve fibers)
Neuromuscular junction disorders (involving malfunctions of the synpases, the space between the nerves and muscles)
  • myasthenia gravis (an autoimmune disease that interferes with the chemical transmission of nerve impulses)
  • congenital myasthenic syndrome (characterized by muscle weakness that worsens with physical activity)
  • botulism (a rare condition caused by nerve toxins produced by the bacteria Clostridium botulinum)
Myopathies (disorders that result in weakness of the muscles)
  • congenital myopathies (a group of disorders involving muscle weakness that appear during infancy, including central core disease, myotubular myopathy, nemaline and other kinds of myopathy)
  • inflammatory myopathies (chronic muscle inflammation that leads to weakness, including dermatomyositis, polymyosistis and inclusion body myositis)
  • metabolic myopathies (the inability of muscle cells to make enough energy to move, including carnitine deficiency, hyper- and hypokalemic periodic paralysis, McArdle disease, Pompe disease and mitochondrial myopathy)
Muscular dystrophies (genetic, degenerative diseases of the muscle)
  • Becker muscular dystrophy (a disorder characterized by slowly progressing weakness of the legs and pelvis)
  • Duchenne muscular dystrophy (a disorder that only affects boys and is caused by a defective gene for dystrophin, a protein necessary for muscle movement)
  • congenital muscular dystrophy (muscular dystrophy that’s present at birth)
  • distal muscular dystrophy (a group of muscular dystrophies that affect the distal muscles — those farthest from the hips and shoulders — including the lower arms, hands, lower legs and feet)
  • Emery-Dreifuss muscular dystrophy (a condition that mainly affects the skeletal and heart muscles)
  • fascioscapular humeral muscular dystrophy (weakness that typically affects the muscles of the face, shoulders and upper arms)
  • limb-girdle muscular dystrophy (a group of disorders affecting the muscles around the hips and shoulders)
  • oculopharyngeal muscular dystrophy (muscle weakness that begins in adulthood and typically causes droopy eyelids and trouble swallowing)
Myotonic disorders (difficulty in relaxing muscles after they contract)
  • myotonic dystrophy types I and II (disorders that begin in adulthood and cause prolonged muscle contractions — for example, an inability to release a grip)
  • paramyotonia congenita (involves periods of muscle tensing — usually affecting the face, neck, arms and hands — that worsen after activity or in the cold)
Other neuromuscular disorders in children
  • Friedreich’s and other kinds of ataxia (difficulty controlling voluntary muscle movements)

Most of these conditions are treatable but not yet curable. A few (including chronic inflammatory demyelinating polyneuropathy, Pompe disease and certain other metabolic myopathies) can be cured.

Symptoms of Neuromuscular Disorders in Children

Each neuromuscular disorder has its own set of initial symptoms. The most common symptoms include:

  • weakness or “floppiness” in infants
  • a change in muscle tone, strength or size
  • delay in reaching motor skills, or a loss of previously acquired milestones
  • frequent tripping or falling
  • difficulty going up stairs or rising to a stand
  • abnormal gait (such as toe walking or waddling)
  • muscle cramping or twitching
  • a tingling or numb sensation
  • difficulty breathing or feeding
    vision problems

Often, these symptoms may worsen over time.

Diagnosing Neuromuscular Disorders in Children  

With all these different varieties, the right diagnosis is essential to finding the best treatment plan.

We offer comprehensive testing, which may include:

  • blood tests and other lab studies
  • genetic testing, as well as screening of other family members
  • nerve conduction tests, such as an electromyogram (or “EMG”), which measures the response of muscles and nerves to electrical activity and is used to help determine the cause of muscle weakness
  • magnetic resonance imaging (“MRI”) —  a safe and painless test that uses a magnetic field and radio waves to produce detailed pictures of the body’s organs. It can be used to identify and monitor the muscle changes associated with certain neuromuscular disorders.
  • muscle biopsy — a test that's performed to look for cellular abnormalities in muscle tissue. It can be done by cutting a small piece of the muscle or by withdrawing a sample of tissue with a needle and syringe.
Experts Working Together as a Team

Neuromuscular disorders in children require a highly coordinated interdisciplinary approach. That means our skilled specialists work together as a team with one simple goal: To optimize your child’s potential.

Depending on your child’s needs, he or she may see a number of different specialists. A neurologist, a pulmonologist, an orthopedist and a cardiologist may be part of your child’s care team. Physical, occupational, speech and respiratory therapists are involved as well. Some locations with expertise in neuromuscular diseases may also have genetic counselors.

If your child is having issues relating to feeding, gastroenterologists (also called “GI doctors”) and nutritionists can offer their expertise. Specialists in pediatric orthotics (bracing) and assistive technology, such as wheelchairs and scooters, are also available to assist with mobility issues and enhance your child’s independence.

With all these different care providers, we understand how hard it can be to manage the many appointments that are so vital to your child’s well-being. That’s why we always do our best to have your child evaluated by several specialists on the same day, each time he or she visits. It’s all part of our commitment to coordinated care, and also to making the lives of our patient-families just a little bit easier. It’s the Nemours promise: To treat your child as we would our own.  

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Nemours/Alfred I. duPont Hospital for Children, Wilmington

1600 Rockland Road
Wilmington, DE 19803
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For Appointments: (302) 651-4200
For Information: (302) 651-4458

Hours: Monday 8:30 a.m. – 2:00 p.m., Wednesday 10:00 a.m. – 11:30 a.m., Thursday 8:30 a.m. – 11:30 a.m.

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Additional Care Team Members
  • Alisa Clark, MSN, PNP-BC (nurse practitioner)
What to Bring
  • photo ID
  • medical and pharmacy insurance cards
  • preferred pharmacy name and phone number
  • names and dosage of all medications, including over-the-counter medication, your child is currently taking
  • guardianship and custody papers, if a legal guardian rather than a parent accompanies your child
Returning Patients
  • Patient Presents Without Legal Guardian (PDF)
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    Note: A parent or legal guardian must be with a child for a first visit.
Forms & Resources
Returning Patients
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
Resources for Patients & Families

Neuromuscular disorders in children can be a life-changing challenge for the whole family. At Nemours/Alfred I. duPont Hospital for Children, a major regional pediatric neuromedical center, you’ll have the comfort of knowing your child’s care is in great hands. Our multidisciplinary team includes some of the most experienced, caring and skilled experts in the nation.

We have one of the most clinically integrated practices in the country. That means you’ll be able to schedule appointments with many of the specialists on your child’s care team, all on the same day. No other hospital in the Delaware or Philadelphia area makes it easier or more convenient for children with neuromuscular disorders to get the top-notch care they need.

What to Expect on Your First Visit

Our first goal will be to diagnose your child’s condition accurately and efficiently. Our neurologists and other experts will review your child’s medical history and conduct a thorough physical exam.

If your child has had any previous diagnostic tests or imaging, please bring the results with you or make them available (via email or fax). We may need additional information, including testing on specific muscles or nerves, imaging studies, tissue biopsy, lab studies or genetic tests.

Consulting with other specialists, we’ll develop a coordinated clinical plan that will help slow the progress of the disorder and help your child thrive. If appropriate, we’ll let you know about opportunities to participate in promising new treatments through clinical trials.

Our broader goals for families with children who have neuromuscular disorders include:

  • providing information and training to help your family adjust to life with a child who has a neuromuscular disorder
  • providing genetic counseling, when needed, to help your family make informed planning decisions
  • connecting your family with social, educational and other supportive resources
Comprehensive Care for Neuromuscular Disorders in Children

Neuromuscular disorders in children are medically complex and require the care of a team of doctors, nurses, therapists and other professionals from many different medical disciplines. Our experts bring extensive knowledge and experience in their own fields — along with a shared commitment to do everything they can to help your child enjoy an active, happy childhood and a rewarding quality of life.

Working together — and coordinating with your child’s primary care doctors — our experts will develop a treatment plan customized for your child. Your child’s care team may include:

  • neurology specialists (experts in disorders of the brain, spinal cord and nerves). Consistently ranked among the best in the nation, Nemours/Alfred I. duPont Hospital for Children’s neurologists will lead your child’s team.
  • physical medicine and rehabilitation specialists and therapists (experts in physical and occupational therapy). Since 1989, duPont Hospital for Children has been accredited by the Commission on Accreditation of Rehabilitation Facilities (CARF International) for our comprehensive integrated inpatient and interdisciplinary outpatient programs.
  • assistive technology specialists (experts in devices, such as wheelchairs and braces, that help promote independent living)
  • orthopedic specialists and surgeons (experts in bones and joints). Nemours has one of the largest and most widely respected pediatric orthopedic practices in the United States — and the world.
  • genetics specialists and technicians (experts in hereditary disorders), who can offer genetic testing for certain neuromuscular disorders in children, as well as screening for other family members
  • pulmonology specialists (experts in lungs and breathing disorders) and certified respiratory therapists, who work closely together to manage any breathing issues related to neuromuscular disorders in children
  • cardiology specialists (experts in the heart). Our Nemours Cardiac Center outcomes and quality measures place us among the top pediatric heart centers in the country.
  • gastroenterology (“GI”) and nutrition specialists (experts in digestion and food), who can assist with any feeding-related issues
  • pain management  specialists, who use a family-centered approach to develop a plan to relieve your child’s pain using the least amount of medication
  • transition of care specialists, who help young adults with chronic or complex medical conditions make the transition from pediatric care to adult-care health providers
  • palliative care specialists, who focus on managing symptoms and enhancing the quality of life for children with the most severe conditions

Nemours/Alfred I. duPont Hospital for Children, named one of the best children’s hospitals in the nation by U.S. News & World Report, is ranked in all 10 surveyed specialties including neurology and neurosurgery, orthopedics, pulmonology, cardiology and heart surgery, gastroenterology (GI) and GI surgery. And, year after year, our physicians are selected as some of the Best Doctors in America®.  

If your child is diagnosed with a neuromuscular disorder, you can be sure our specialized, expert team will be with you every step of the way, doing all we can to help your child reach his or her fullest potential.

Our World-Class Muscular Dystrophy Program

The Muscular Dystrophy Program at duPont Hospital for Children is the only one of its kind in Delaware. Approved by the Muscular Dystrophy Association (“MDA”), our program brings together two important elements to care for kids who have neuromuscular diseases like muscular dystrophy:

  • the latest, most promising, most advanced techniques, medications and therapies
  • a caring, compassionate, family-centered approach that offers support for patients and families alike

If necessary, your child will also benefit from the program’s Muscle Respiratory Care Clinic. Provided at the hospital, in conjunction with the MDA, this collaborative clinic evaluates, diagnoses and treats children with respiratory illnesses that may occur as a complication of neuromuscular disorders.

Learn More About Our Muscular Dystrophy Care »

We Coordinate Resources for the Most Effective Treatment

Most neuromuscular disorders in children benefit from a combination of treatment approaches. Depending on your child’s condition, your child’s care team may recommend any of the following:

  • Gait analysis — Our Gait Analysis Lab, one of the first of its kind, uses state-of-the-art three-dimensional imaging technology to analyze the motion patterns of children with a variety of neuromuscular and other disorders. This information yields helpful information used to customize treatment.
  • Orthotics (braces) — Kids with some neuromuscular disorders need a brace to provide stability and strength when they move their arms or legs. Our professionals will help you obtain customized braces, make sure they fit properly, show you and your child how to use them, and adjust them as needed.
  • Assistive technology — Children with some kinds of neuromuscular disorders often use wheelchairs and other devices to help them get around and perform other routine tasks. Our assistive technology team can show you what devices might be available and teach you and your child how to use them to enjoy a better quality of life. We also have an on-site wheelchair clinic where your child can get any necessary adjustments or repairs.
  • Medication — Some kids have conditions that require medicine for a number of reasons: to control spasticity (muscle stiffness or spasms); to reduce swelling or pain; to improve breathing, digestion or other functions; and/or to slow the progress of the disorder.
  • Therapy — Physical or occupational therapy can often make a big difference in a child’s life by helping strengthen affected nerves and muscles. The experienced pediatric therapists in our Physical Medicine & Rehabilitation division will develop a customized therapy plan to help your child improve flexibility and strength, and live more independently.
  • Surgery — Surgery is rarely performed to treat most neuromuscular disorders. In some cases, a surgical procedure can improve your child’s comfort by addressing a problem that’s associated with the disorder — by reducing pain, increasing flexibility or repairing damaged tissue.
  • Diet — Our nutritionist may suggest foods that are high in helpful nutrients or low in harmful ones — and show you how to find and prepare foods that give your child a nutritional advantage.
Keeping Everyone Up-to-Date About Your Child’s Care

We believe that one of the best ways to advance medicine to benefit children is through collaboration. With the help of our award-winning electronic health record (EHR), we work closely with our own Nemours care providers, as well as physicians and health care professionals in the community.

NemoursOne, our electronic health record, is a secure, online environment that connects all phases of care for a child — inpatient, outpatient, at home and at the referring physician's office. So, no matter who your child is seeing within our hospital or at one of our satellite locations, everyone can access the same information at the same time.

Using a special physician portal, primary care and referring physicians can also securely access information about the care provided by the Nemours medical team so that they can monitor your child’s progress any time, day or night. Through a special program called the “Student Health Collaboration,” public school nurses in Delaware can also access your child’s electronic medical record (with your permission) so that they can understand your child’s condition and treatment, and be better informed about how to best care for your child during the school day.

Parents can also keep track of what’s going on with their child’s care. MyNemours is your free, personal access to select areas of your child’s medical record, including test results. It’s also your key to direct, confidential electronic communication with your child’s Nemours medical providers. With MyNemours you can:

  • request an appointment
  • renew prescriptions
  • communicate with your child's medical provider
  • view and print select medical information like your child's growth chart or immunization record
  • manage health care information using your computer, iPhone or Android mobile device
Support Services Through the Swank Center for Neuro-Orthopedics

Thanks to the generous support of the Swank family, we’re able to offer a variety of services that advance the care of children with neuromuscular and other conditions involving muscles, joints and nerves working together. These services include:

  • highly specialized orthotic devices for patients who could benefit from their use but do not have the financial means to obtain them
  • family conferences and visiting professorships for experts in their respective fields
  • enhancements to the Gait Lab, used primarily to analyze the walking and movements of children with neuromuscular and neuro-orthopedic disorders in order to make treatment decisions and monitor progress before and after surgery
  • enhanced psychological support for families of children with neuromuscular and neuro-orthopedic disorders