Neuromuscular Program

About us

Our Neuromuscular Program at Children’s Hospital Boston brings together a team of specialists from Neurology, Orthopedic Surgery, Physical Therapy and Genetics, each of whom is experienced in caring for children with neuromuscular disorders. We work together to develop a treatment plan that meets your child’s unique needs and maximizes his quality of life.

The specialists in our program are experienced with the following disorders, as well as many others:

• muscular dystrophies
  • Duchenne and Becker muscular dystrophy
  • Emery-Dreifuss muscular dystrophy
  • myotonic dystrophy
  • limb-girdle muscular dystrophies
  • facioscapulohumeral muscular dystrophy (FSHD)
  • congenital muscular dystrophies
• other myopathies
  • congenital myopathies
  • glycogen storage diseases and other metabolic myopathies
  • polymyositis and dermatomyositis
• neuropathies
  • Charcot-Marie-Tooth disease
  • Guillain-Barré syndrome
  • chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)
  • Friedreich ataxia
  • traumatic neuropathies, including sports injuries and Erb’s palsies
• motor neuron diseases
  • spinal muscular atrophy (these patients are cared for in our Spinal Muscular Atrophy Program)
  • other conditions affecting the motor neurons in the spinal cord
• neuromuscular junction disorders
  • myasthenia gravis
  • congenital myasthenic syndromes
  • botulism
     

A team of dedicated specialists

A hallmark of our clinic is that it brings together the different specialists whose expertise is needed to care for children with neuromuscular disorders. That means that your child will be able to see his neurologist, orthopedic surgeon, and physical therapist at the same time, in the same place. And it means that we all work closely with each other to develop the best therapeutic plan for your child. The clinic is held on most Mondays.

Our network includes colleagues in Cardiology, Pulmonary, Nutrition, Gastroenterology and other specialties at Children’s who are experienced in caring for children with neuromuscular disorders. So if your child needs to see a doctor or therapist outside our clinic, we can send you to someone who has specialized expertise and who will be sensitive to your child’s unique needs.

We also work with the Augmentative Communication Program at Children’s, which uses a variety of innovative strategies to help our patients communicate effectively.
 

Our diagnostic services

We use a number of different tests to help us accurately diagnose your child’s disorder and evaluate his condition. Our program takes advantage of several superb clinical and laboratory resources at Children’s:

Electromyography (EMG) and nerve conduction velocity (NCV) studies are done to record the activity of muscles and motor nerves. Children’s has its own EMG laboratory, which is staffed by the neurologists in the Neuromuscular Program.

Muscle biopsyis also useful in diagnosing muscle disease and sometimes nerve damage. The procedure is performed under general anesthesia, but most children are able to go home the same day. Frederic Shapiro, MD, the orthopedic surgeon on our Neuromuscular team, performs most of our muscle biopsies. Children’s neuropathology specialists provide us with expert analysis of the tissue from these biopsies.

Genetic testingis a powerful tool for diagnosing inherited neuromuscular disorders, and we are experienced in interpreting the results. In most cases, the testing is done right here in the Children’s Genetics Diagnostic Laboratory.

Improving genetic testing is an active area of research for us. Recently, we developed a method that allows us to screen for muscular dystrophy genes far more efficiently than has been possible thus far.

For some children, the cause of their disease remains a mystery even after extensive testing, so our researchers continue to search for new genetic changes that may explain neuromuscular diseases. See the Our innovative approach tab to learn more about this work.
 

Treatment

Our specialists are dedicated to anticipating any complications that your child may experience from his disease and developing the best therapeutic plans to manage them.

In addition to caring for your child in our clinic and with other specialists at Children’s, we can work with providers who are closer to your home. For example, when our physical therapist meets with families during our Monday clinics, she reviews home exercise regimens and often helps to identify physical therapy resources in families’ local communities.
 

Muscular Dystrophy Association (MDA)

The Muscular Dystrophy Association (MDA) has supported our clinic for decades. A representative from the MDA attends most of our Monday clinics to answer questions families may have about MDA services and resources.