Neuromuscular Program

Pediatric neuromuscular diseases encompass a spectrum of disorders originating in childhood that affect the muscles, neuromuscular junctions, peripheral nerves or neurons in the spinal cord. While most of these conditions are genetic, some are acquired and primarily an abnormal immune system response.

The Neuromuscular Program at Barrow Neurological Institute at Phoenix Children’s is one of the largest and most advanced in the country, specializing in the diagnosis, treatment and management of a wide range of neuromuscular conditions, including Duchenne muscular dystrophy (DMD), spinal muscular atrophy (SMA) and more.

Phoenix Children’s is committed to providing comprehensive and compassionate care, advancing research and improving the quality of life and outcomes for children with neuromuscular disorders. We offer a range of innovative and cutting-edge therapies, including gene therapy, enzyme replacement therapy and novel pharmacological treatments.

Leading the Way in Treatment and Research

Our Neuromuscular Program is at the forefront of neuromuscular treatment and research. We are proud to collaborate with Cure SMA, the Muscular Dystrophy Association, and Parent Project Muscular Dystrophy (PPMD). Through these partnerships, we focus on clinical research and maintain extensive patient registries to track outcomes, side effects and associated medical issues. Our participation helps enhance future treatments and improve standards of care. We encourage our patients to participate in clinical trials aimed at improving diagnosis, treatments and outcomes. Additional information about our advanced clinical research and breakthroughs can be found on our Research & Clinical Trials page.

Multidisciplinary Care

Our multidisciplinary neuromuscular program brings together specialists in neurology, cardiology, orthopedics, genetics, therapy services, nutrition and social work to provide comprehensive, personalized care to your child. We also have a full-time coordinator ensuring seamless care coordination for our patients.

Newborn Screening and Early Intervention

We participate in newborn screening programs to identify neuromuscular conditions as early as possible. Upon notification of a positive screen, we evaluate the newborn the next day, when possible (excluding weekends), and promptly initiate therapeutic treatment. Early intervention is crucial for improving long-term outcomes, and our proactive approach ensures that each child receives the best start in life.

The most common genetic pediatric neuromuscular condition, with an estimated prevalence of 1 in 5,000 boys.

A genetic condition with an estimated prevalence of approximately 1 in 10,000 live births.

Through our participation in numerous clinical trials, registries and pioneering novel therapies, including advanced genetic treatments, we have made substantial advancements in improving the quality of life and outcomes for children with DMD and SMA.

In addition to DMD and SMA, we also see children with a variety of conditions and an abnormal immune system response disorder including:

Congenital Myopathies
Channelopathies
Chronic Immune Demyelinating Polyneuropathy (CIDP)
Guillain-barre Syndrome (GBS)
Inflammatory and Metabolic Myopathies
Myasthenia Gravis
Other Muscular Dystrophies
Peripheral Neuropathies (Charcot-marie-tooth Disease)

Transforming Perceptions and Realities

The perception that neuromuscular disorders are untreatable and associated with poor prognosis has changed. Advances in pharmacologic treatments, gene therapies, enzyme replacement therapy, muscle-building compounds and immunomodulatory regimenshave led to significant improvements in survival, quality of life and patient outcomes.

At Phoenix Children’s, we are committed to continuing this progress and providing hope to families affected by these challenging conditions.