Neuromuscular Disorders

What are neuromuscular disorders?

In addition to helping kids run and jump, muscles pump blood throughout the body (the heart), allowing them to speak and breathe and more. Because we rely upon our muscles to do so much of what makes life enjoyable or even possible, it is important that any problems be treated by specialists as soon as they are suspected. 

Neuromuscular disorders are a collection of diseases characterized by muscle weakness or dysfunction. These diseases may be related to how the nerves communicate with the muscles or a breakdown of the muscles themselves. Whatever the cause, muscle weakness is typically the result.

Treating your child’s condition early is the best way to ensure he or she is able to live as active a life as possible. Our experienced and caring team of doctors and volunteers work with your child to build confidence as they develop or recover skills they need at home, school and play.

Neuromuscular disorders we treat

The neurologists in the Neuromuscular Program at Children’s work with a variety of other specialists, including physiatrists (rehab physicians), pulmonologists, physical and occupational therapists, cardiologists, genetics counselors, orthopedic specialists, physician assistants, nurses, social workers and mobility experts, all to give your child the very best care available.

Our specialists treat the full range of neuromuscular disorders, including :

  • Duchenne and Becker muscular dystrophy – muscle weakness and breakdown
  • Limb girdle muscular dystrophy – muscle weakness that occurs in the arms and the legs near to where they join the body
  • Congenital dystrophies – inherited muscle weaknesses
  • Spinal muscular atrophy - muscle weakness along the backbone and in the muscles of posture
  • Congenital myopathies – inherited muscle weakness because of a problem with the muscles themselves
  • Myasthenia gravis – disease where the body accidentally destroys the nerves’ communication with the muscles by thinking that they are foreign
  • Myotonic dystrophies and other myotonic disorders – delayed relaxation after contracting muscles
  • Charcot-Marie tooth disease and other hereditary neuropathies – inherited muscle weakness because of a problem with how the nerves communicate with the muscles
  • CIDP and other polyneuropathies – inherited muscle weakness because of a problem with how the nerves communicate with the muscles
  • Friedreich’s ataxia – a progressive disease that breaks down the nerves and muscles and shortens life

Warning signs of neuromuscular disorders

  • Clumsy movement
  • Difficulty climbing stairs
  • Frequently tripping and falling
  • Unable to jump or hop normally
  • Tip-toe walking
  • Tiredness
  • Difficulty breathing
  • Difficulty sitting or getting up

Diagnosis & treatment

At Children’s, after we evaluate your child’s medical history, we conduct a physical examination and test his or her reflexes. Our specialists may perform blood tests, specialized DNA tests, pediatric EMG/NCV, and/or remove small amount (biopsy) of effected nerves and muscles for direct examination.

An electromyogram (EMG) will be used to determine if weakness stems from the muscle or the nerves, and an electrocardiogram (ECG or EKG) will determine whether or not the heart muscle has been damaged. This is all in an effort to provide the most accurate diagnosis for targeted treatment that is as unique as your child.

Depending on the specifics of your child’s condition and your input as a parent, a variety of treatments may be recommended. Our cutting-edge treatments include plasmapheresis and immunoglobulin therapies, which help in auto-immune disorders like myasthenia gravis.

There is no treatment for muscle breakdown; we can only slow its progress and give your child the skills and aids they need to move as freely as possible. This may include physical therapy and rehabilitation or orthopedic surgery. Specialists in our award-winning scoliosis program are also available to consult or treat, as needed.

We also offer psychological counseling, and have a wide variety of equipment that will improve your child’s mobility and allow him or her to build confidence through independent movement.