The Neuromuscular Program for Muscle Disorders

The Neuromuscular Program is a multidisciplinary clinic that specializes in the evaluation, diagnosis and care of infants, children, teens and young adults with neuromuscular disorders.

Why choose Children’s Hospital Colorado?

The diagnosis of a neuromuscular disorder in a child can be difficult for families. Our team provides family-centered care and support throughout the process of diagnosis and treatment of neuromuscular disorders. We recognize that every child’s needs are different and each patient needs to be treated as an individual.

About our multidisciplinary team

Our multidisciplinary neuromuscular team includes experts from neurology, rehabilitation medicine, pulmonary, physical therapy, respiratory therapy, clinical nutrition, neuropsychology, social work and genetic counseling, along with a clinical care coordinator, MDA health care coordinator and equipment specialists. Our clinic also has care partners in cardiology, endocrinology, orthopedics and all pediatric services at Children’s Colorado.

Specific conditions we treat

• Muscular dystrophies
  • Duchenne/Becker muscular dystrophy
  • Limb girdle muscular dystrophy
  • Myotonic dystrophy
  • Congenital muscular dystrophies
• Myopathies
  • Congenital  myopathies
  • Mitochondrial myopathies
  • Metabolic myopathies such as McArdle’s disease
• Myasthenia gravis
• Congenital myasthenic syndromes
• Spinal muscular atrophy (SMA)
• Peripheral neuropathies
  • Guillain-Barre syndrome
  • Hereditary neuropathies like Charcot-Marie-Tooth disease
• Inflammatory myopathies
  • Dermatomyositis
  • Polymyositis

Services offered

Diagnostic services available through our clinic include:

• Laboratory testing - typically includes testing to see if muscle enzyme levels are high
• Genetic testing
• Physical therapy - tests strength and function
• X-ray and diagnostic imaging (MRI, DEXA)
• Pulmonary function tests (PFTs) - measures the strength of the breath
• Sleep studies - identifies breathing problems during sleep
• Electrophysiologic testing - nerve conduction studies test the function of the nerves, and electromyographic (EMG) examinations test the function of the muscles
• Muscle and nerve biopsy - involves examining the muscle and/or nerve under the microscope to identify underlying microscopic problems
• Cardiology - identifies heart problems and may include EKG, ECHO, MRI

What to expect from your visit

During your visit to the Neuromuscular Program at Children's Colorado, your child will be evaluated by multiple members of our team. A typical visit will take about three hours. We recommend that you bring toys, books and snacks to occupy the time.

Please also bring records of any prior testing performed elsewhere, such as X-rays, MRI scans, muscle biopsy slides, EMG reports, lab testing results and consults or medical reports/records.

Spinraza (nusinersen) treatment

Spinraza was approved by the FDA in 2016 for the treatment of pediatric and adult patients with spinal muscular atrophy (SMA). Many insurance companies are not familiar with SMA and need to be educated about the disease, positive clinical trial outcomes with nusinersen, and the data to support its use before they are willing to establish medical and payment policies for such an expensive lifetime treatment. Children’s Colorado is partnering with other hospitals around the country to work with major insurers who are establishing medical and payment policies around this drug. Learn more about Spinraza treatment at Children’s Colorado.

Education

The Neuromuscular Program is actively involved in the training of the neuromuscular specialist of the future. You will likely encounter trainees in medicine, nursing, physical therapy, respiratory therapy and genetic counseling. They are here to learn and their inquisitiveness enhances patient care.

Research             

Our current ongoing research studies are listed below. Patients and families who participate in these studies are pioneers in the development of treatment for neuromuscular disorders and may improve the quality of life for themselves and others.

• Clinical Trials
  • PTC 124
  • Sildenafil
  • NeuroNext Site: Biomarkers in SMA
  • SPOTSMA Newborn Screening and Follow-up Study
  • MTM1 Natural History Study
• National Data Bases and Registries
  • MDA National Database
  • MD STARNet
• Basic Science
  • Zebra fish as a model system for motor neuron disease
• Care Guidelines
  • Duchenne
  • Spinal muscular atrophy (SMA)
  • Congenital Myopathy
• Quality and Outcomes
  • Vitamin D Levels
  • Complementary and Alternative Medicine Usage in Neuromuscular Diseases
  • Flu Vaccination

Learn more about the Neuroscience Institute.