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About pediatric neuromuscular disorders

Neuromuscular diseases in children encompass a wide variety of genetic, autoimmune and degenerative conditions involving the spinal cord nerves and muscles. Many times these conditions also affect major organ systems (brain, heart, lungs and skeletal system). Common symptoms of neuromuscular disorders include low muscle tone, developmental motor delay/loss of milestones, weakness/fatigue, muscle pain, numbness/tingling, elevated muscle enzymes (CPK), progressive foot deformities, toe walking, and droopy eyelids/abnormal eye movements.

Many children with neuromuscular disorders require long-term care and rehabilitation, as well as ongoing social support for their families.

Our approach

At the Cohen Children’s Pediatric Neuromuscular Disease Center, we coordinate the diagnosis, treatment and care of children and teens with neuromuscular disorders. Our dedicated, on-site team includes doctors, nurses, genetic counselors, social workers and nutritionist. In order to create a comprehensive, individualized plan of care for your child, we collaborate with our esteemed colleagues across several disciplines, including:

Conditions we treat

Conditions that we diagnose and manage include:

  • Spinal muscular atrophy
  • Traumatic neuropathies, Erb’s palsy
  • Charcot-Marie tooth disease
  • Guillain-Barre syndrome
  • CIDP (Chronic inflammatory demyelinating syndrome)
  • Myasthenia gravis and congenital myasthenic syndromes
  • Muscular dystrophy
  • Congenital and metabolic myopathies
  • Polymyositis and dermatomyositis

What to expect

Many neuromuscular diseases are caused by genetic conditions, either inherited or spontaneously acquired. During your initial visit with one of our neuromuscular specialists, your child will undergo a comprehensive history and neuromuscular examination during which personal and family medical history will also be reviewed. If a genetic condition is suspected, initial genetic testing will be performed. During the next visit, patient and family will undergo genetic counseling and further testing, based on the results.

Other neuromuscular conditions are caused by abnormal responses by the immune system to muscles and nerves (autoimmune), which can be diagnosed by electrodiagnostic testing as well as specific antibody testing. Muscle ultrasound and biopsies can be performed by our experienced pediatric surgeons and radiologists if needed in order to define muscle disorders

Depending on your child’s individual diagnosis, treatment options will be discussed, including:

  • Genetic treatment for spinal muscular atrophy
  • Steroid therapy for muscular dystrophy
  • Immune therapy for myasthenia gravis and acute and chronic inflammatory demyelinating neuropathy 
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