Explore This Treatment Program


The Pediatric Neuromuscular Clinic offers coordinated, multidisciplinary care for infants, children and adolescents with a wide variety of neuromuscular disorders, including:

  • Dystrophinopthy and other congenital muscular dystrophies
  • Myopathies, limb-girdle muscular dystrophies, myotonic dystrophies, metabolic myopathies, mitochondrial myopathies
  • Neuromuscular junction disorders including myasthenia gravis
  • Peripheral myopathy disorders including Charçot-Marie-Tooth disease and other hereditary neuropathies, acquired neuropathies such as acute and chronic inflammatory demyelinating neuropathies, etc.
  • Friedrich’s Ataxia
  • Spinal Muscular Atrophy (SMA)
  • Known affected family members with any of the above genetic conditions and concern with an infant or child with neuromuscular disorders

Individualized Treatment Plans

Our neuromuscular specialists evaluate children with hyporeflexia, low muscle tone, muscle weakness, delayed motor skills, muscle pain, cramping, or who have an inherited neuromuscular disease or genetic risk. Initial comprehensive evaluations take place in a single day (Tuesdays) and depending upon referral requests, a given patient may see a range of pediatric specialists, including:

  • Pulmonologists
  • Cardiologists (pediatric and adult)
  • Geneticists
  • Endocrinologists
  • Neurologists/neuromuscular specialists
  • Physical therapists
  • Orthotists
  • Nutritionists
  • Financial counselors
  • Social workers

It is very important that your insurance carrier (and if necessary your PCP) authorize your child’s appointments at Mass General for Children beforehand.

The initial evaluation includes an extensive interview with family as well as an examination of the child. Based on exam findings, clinicians will seek a specific diagnosis. This effort sometimes involves blood DNA tests and possibly other studies including imaging and muscle/nerve biopsies.

Based on a specific diagnosis, which is the first priority, our multidisciplinary neuromuscular specialists can best offer targeted recommendations. Some recommendations will include physical and occupational therapists as well as early intervention or school-based therapy. Our team will send a summary note of findings to the referring physician and to the parents.

The local primary care provider is the most important member of the care team. Most patients will typically come to our clinic once or twice per year and it is of the utmost importance that we coordinate with the families’ primary care providers, especially if not local to Boston.

Our Pediatric Neuromuscular Disorder Clinic staff will coordinate and make recommendations for the appropriate muscular dystrophy resources near the child's home. At MassGeneral Hospital for Children, we have a close association with colleagues in the adult neuromuscular clinic at Massachusetts General Hospital, which allows not only easy access to its world-renowned clinicians, but also smooth continuity of care as the patient matures from adolescence to adulthood.