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.  

Nemours Children's Specialty Care, Jacksonville

807 Children’s Way
Jacksonville, FL 32207
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For Appointments: (904) 697-3600

Hours: Monday–Friday, 8 a.m. to 5 p.m.
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What to Bring
  • your photo ID
  • insurance and/or Medicaid cards
  • referral from your referring physician (if required by your insurance)
  • co-payment, if applicable
  • legal guardianship or custody papers if you are not the patient’s parent
If available, please provide:
  • preferred pharmacy contact information
  • names and dosages of all medications your child is taking (including over-the-counter medications)
  • name and number of your primary care physician
  • parent (and child’s) social security numbers
  • parent work information (address, telephone numbers)
  • immigration information (if your child was not born in the United States)
  • list of prior immunizations
New Patients
  • Patient Registration (PDF)
Returning Patients
  • Release of Information (PDF)
    English | Spanish
  • Patient Presents Without Legal Guardian (PDF)
    English | Spanish
    Note: A parent or legal guardian must be with a child for a first visit.
Forms & Resources
New Patient Forms
  • Patient Registration (PDF)
Returning Patient Forms
  • Release of Information (PDF)
    English | Spanish
  • 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 Children’s Specialty Care, Jacksonville, you’ll have the comfort of knowing your child’s care is in great hands. Our pediatric specialists are routinely listed among the “Best Doctors in America®,” year after year. And, in partnership with Wolfson Children’s Hospital, University of Florida College of Medicine-Jacksonville and Mayo Clinic Florida, our pediatric neurology program was named among the best in the country by U.S. News & World Report.

We also have one of the most clinically integrated practices in Northeast Florida. 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 practice in the area makes it easier or more convenient for children 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 a wide variety of 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). Ranked among the best in the nation, Nemours Children’s Specialty Care, Jacksonville’s neurologists will lead your child’s team.
  • 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
  • gastroenterology (“GI”) and nutrition specialists (experts in digestion and food), who can assist with any feeding-related issues

Other services for children with neuromuscular disorders — including cardiac (heart) care, physical and occupational therapy, and assistive technology — are offered through our partner, Wolfson Children’s Hospital.

Our World-Class Muscular Dystrophy Program

The Muscular Dystrophy Program at Nemours Specialty Care, Jacksonville is provided in partnership with Wolfson Children's Hospital, located next door and connected by a sky walkway for seamless, convenient access. 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

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:

  • 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 take advantage of wheelchairs and other devices to help them get around and perform other routine tasks. Our assistive technology team, coordinated through Wolfson Children’s Hospital, 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. Together with the therapists at Wolfson Children’s Hospital, we’ll 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.

If hospitalization is required, it’s comforting to know we’ve been partnering with the surgeons, specialists and staff members at Wolfson Children’s Hospital for decades. Together we can handle any needs that arise in your child’s care.

Connecting With Your Child’s Primary Care Physician

We believe that one of the best ways to advance medicine to benefit children is through collaboration. We work closely with physicians in the community to triage their cases, offer expert diagnostics, and to help send patients to the right place for treatment.

NemoursOne, our electronic health record (EHR) 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. Using a special physician portal, primary care and referring physicians can securely access information about the care provided by the Nemours medical team and monitor a child’s progress any time — day or night.