Neuromuscular Clinic

The Neuromuscular Clinic is a multidisciplinary clinic that specializes in the evaluation, diagnosis and care of children with neuromuscular problems, such as muscular dystrophies. We specialize in treating children with weakness, delayed motor skills, low muscle tone and joint contractures.

Why choose Children’s?

We are one of few muscle clinics in the Western U.S. that treats infants, children, teens and young adults with neuromuscular disorders. Each year, we provide quality care for approximately 300 young patients.

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.

Our multidisciplinary neuromuscular team includes neurologists that specialize in neuromuscular disease, physiatrists, physical therapists, a respiratory therapist, a nutritionist, a social worker and a genetic counselor. In addition, we work closely with cardiologists, pulmonologists, and orthopedic surgeons.

In addition, we offer services such as diagnostic electrophysiologic testing (nerve functioning testing), on-site equipment specialists for assistive devices and clinical therapeutic trials for neuromuscular disease.

Specific conditions treated

• Muscular dystrophies
  • Duchenne/Becker muscular dystrophy
  • Limbgirdle muscular dystrophy
  • Myotonic dystrophy
  • Congenital muscular dystrophies
• Myasthenia gravis
• Congenital myasthenic sydnromes
• Spinal muscular atrophy
• 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
• Myometry - involves testing of muscle strength
• X-ray
• Pulmonary function tests (PFTs) - to measure of 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

What to expect from your visit

Your child will be evaluated by multiple members of our team. A typical visit will take about two hours. We recommend that you bring toys, books and snacks to occupy the time. Please 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.

Research

Our current ongoing clinical studies are listed below. Patients 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.

Those interested in participating in these studies can contact Julie Parsons, MD, at (720) 777 6895.

• Phase two study of PTC124  is an oral treatment for nonsense mutation-mediated Duchenne muscular dystrophy. This is a phase 2b multi-center, randomized, double-blind, placebo-controlled, dose-range finding, efficacy and safety study. It is designed to determine the clinical benefit of PTC124 when given to patients with DMD/BMD due to a nonsense mutation resulting in a premature stop codon in the dystrophin gene.
• MD STARnet: Muscular Dystrophy Surveillance Tracking and Research Network. This is a CDC-sponsored program to track all children with Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) to better determine the heath services and needs of people with DMD/BMD and their families. Ultimately, MD STARnet aims to improve the health and quality of life of all families with DMD/BMD.