Neuromuscular Program

CHOP's Neuromuscular Program is staffed by experts in the diagnosis and treatment of children with neuromuscular diseases. These diseases require timely evaluations and expert diagnosis and testing. Our team is committed to providing the most current, comprehensive and specialized care possible.

CHOP’s Neuromuscular Program has been recognized by Parent Project Muscular Dystrophy, the Spinal Muscular Atrophy Foundation and the Muscular Dystrophy Association.  Our physicians and scientists are active participants in clinical trials and continue to research causes and possible new treatments for neuromuscular disorders.

Your child may be referred to CHOP’s Neuromuscular Program if she has any of the following symptoms:

  • Low-muscle tone (hypotonia)
  • Weakness
  • Delay in acquiring motor skills
  • Joint contractures (arthrogryposis)

Our services

Our team provides:

  • Comprehensive clinical evaluations
  • Coordinated diagnostic testing
  • Detailed genetic counseling
  • Individualized treatment options
  • Ongoing follow up

Conditions we treat

Each year, we care for more than 500 patients from around the country with a wide range of neuromuscular disorders including:

  • All forms of muscular dystrophy (Duchenne, Becker, Limb-Girdle, Ullrich congenital, Bethlem myopathy, facioscapulohumeral [FSH] and myotonic dystrophy)
  • Congenital myopathies
  • Metabolic myopathies (mitochondrial, Pompe disease)
  • Inflammatory myopathies (dermatomyositis, polymyositis, including body myositis)
  • Spinal muscular atrophy
  • Peripheral neuropathy (hereditary neuropathy [CMT], acquired neuropathy)
  • Myasthenia gravis


FDA Approves Gene Therapy Researched at CHOP for Children with Duchenne Muscular Dystrophy

On Thursday, June 22, the U.S. Food and Drug Administration (FDA) approved Elevidys, the first gene therapy for Duchenne muscular dystrophy (DMD), for patients with the disease between the ages of 4 and 5 years old. CHOP served as one of the clinical trial sites for Elevidys, developed by Sarepta Therapeutics. Learn more.


Evaluating your child

Your child’s evaluation will be individualized and based on a number of factors, including:

  • Your child's diagnosis (type and extent of condition)
  • Your child's age, overall health and medical history
  • Safety and effectiveness of treatment choices
  • Expectations for the course of the condition
  • Your opinion or preference

Diagnostic testing

The Neuromuscular Program offers a full spectrum of diagnostic tests to help clinicians better understand your child’s condition and potential problems.

Tests include:

  • Imaging (X-rays, DEXA scan, muscle ultrasound)
  • Pulmonary (pulmonary function tests, sleep study)
  • Biopsies (muscle, nerve, skin)
  • Cardiac testing (electrocardiogram [EKG], echocardiogram [ECHO])
  • Muscle function testing (myometry, muscle ultrasound, electromyogram [EMG])
  • Laboratory tests
  • Nutrition and feeding studies

Treatment options

Once your child has been evaluated, the neuromuscular team will recommend specific interventions appropriate for your child’s condition. These may include:

  • Physical and occupational therapy
  • Exercise and stretching program
  • Positioning aids; used to help the child sit, lie or stand
  • Braces and splints; used to prevent deformity, promote support or provide protection
  • Orthopaedic surgery
  • Mobility devices, such as scooters and wheelchairs
  • Medications
  • Gene therapy for neurological disorders

Follow-up care

Depending on your child’s situation, our experts may recommend your child receive additional counseling or consultations with other departments at CHOP.

Next Steps

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