We hold a monthly Comprehensive Neuromuscular Clinic for children with neuromuscular disorders. Your family will meet with a multispecialty team that provides an accurate diagnosis and designs a comprehensive treatment plan. We aim to improve your child’s quality of life and help them live a fuller, more functional life.

Neuromuscular Disorders We Treat

Our pediatric neurologists specialize in treating infants, children and adolescents with a variety of muscular disorders, including:

• Duchenne muscular dystrophy (DMD): We treat all types of muscular dystrophy. DMD is one of the most common and severe forms. A genetic mutation causes problems with a protein in the body called dystrophin, which helps keep muscle cells intact. This problem leads to worsening muscle degeneration and weakness. It also affects heart muscle. 
• Becker muscular dystrophy (BMD): BMD is similar to DMD, but it develops later in childhood or in adulthood. People with BMD often have milder muscle symptoms than people with DMD but similar effects on the heart.
• Myotonic dystrophy: Myotonic dystrophy causes muscle loss and weakness, and the muscles have trouble relaxing after contracting. The condition can also affect multiple other body systems, such as the heart, lungs and eyes. 
• Spinal muscular atrophy (SMA): SMA is a genetic condition that leads to a loss of nerve cells (known as motor neurons) in the spinal cord. It causes weakness and fatigue of the voluntary muscles and reflexes. If the disease affects muscles used for breathing and swallowing, your child may experience additional symptoms and complications. Learn more about our SMA Clinic. 
• Congenital myopathies: A congenital myopathy is any genetic muscle disorder. The symptoms are usually noticeable at birth and include weakness and lack of muscle tone. Myopathy can range from mild to severe.
• Freidreich ataxia: Freidreich ataxia is a rare genetic disorder that damages the nervous system. It causes problems with muscle weakness, balance, sensation and motor skills that worsen over time.

Diagnosing Neuromuscular Disease

An accurate diagnosis is an essential step toward creating an effective treatment plan. Your multidisciplinary team performs a thorough assessment to determine your child’s level of function and involved systems.

Testing may include:

• Genetic testing to identify gene mutations that cause specific conditions 
• Electrocardiogram (EKG) to assess heart rhythm 
• Echocardiogram (echo) or cardiac MRI to test whether heart muscle is affected by the neuromuscular condition
• Pulmonary function tests to assess how well the lungs are working 
• Imaging tests such as ultrasound, X-ray and MRI to get detailed images of your child’s tendons, ligaments, muscles, nerves, bones and joints 
• Dual X-ray absorptiometry (DEXA) scan to measure bone density and bone loss 
• Biopsies of bodily tissues, such as muscles, nerves and skin, to look for signs of disease
• Electromyogram (EMG) and nerve conduction study, which help determine whether symptoms are caused by a muscle issue or nerve problem

Treating Neuromuscular Disorders

Treatment for a neuromuscular disorder can help improve your child’s symptoms, mobility and quality of life. We’ll design a personalized plan based on your child’s needs that may include:

• Braces to support and protect weakened parts of the body
• Medical equipment, such as respiratory support therapies for home, wheelchairs and other assistive devices 
• Medications to support the muscles, bones and heart, as well as intravenous (IV) therapy for weak bones as indicated
• Occupational therapy to help your child more easily perform everyday tasks, such as eating, grooming, writing and doing things around the house
• Physical therapy to optimize your child’s physical condition, improve mobility and teach them how to move safely 
• Speech therapy to improve your child’s ability to breathe, speak or swallow
• Research studies that are testing new therapies

Your Care Team

During the monthly neuromuscular clinic, you and your child meet with several different specialists one-on-one. Each specialist reviews how your child is doing and makes recommendations.

All our specialists work together to ensure they address every aspect of care. As a result, you won’t have to go to multiple appointments to meet different specialists who don’t communicate directly.

The Comprehensive Neuromuscular Clinic includes the following specialists and team members:

• Neurologists to diagnose, monitor and treat the neuromuscular condition
• Cardiologists to monitor and manage heart issues
• Pulmonologists to care for lung problems
• Physiatrists and physical therapists to assess mobility and assist with equipment needs
• Palliative care specialists to support patients and families, manage symptoms and review goals of care
• Neuropsychologists to address the mental health challenges that can accompany chronic illness and facilitate school accommodations
• Dietitians to optimize nutrition
• Social workers to help patients and families meet other needs and navigate the healthcare system

The team also works closely with:

• Geneticists and genetic counselors to help you understand the condition
• Orthopedists to address concerns with bones, muscles and joints
• Nephrologists to care for metabolic bone disease and support kidney health
• Endocrinologists to assess and manage growth and puberty

Neuromuscular Disorders: Why Choose Joe DiMaggio Children’s Hospital?

When you bring your child to Joe DiMaggio Children’s Hospital for a neuromuscular condition, you’ll find:

• Trusted expertise: Our pediatric neuromuscular providers are board certified and fellowship trained. They have experience treating all types of neuromuscular disorders. 
• Specialized neuromuscular clinic: Our monthly clinic brings together many specialists who are often needed in neuromuscular care. Being in one location helps them communicate clearly and provide comprehensive care. It also makes your child’s care more efficient, reducing the number of separate appointments to schedule and attend.
• Individualized treatments: Neuromuscular conditions affect every child differently. Our specialists design a plan to meet your child’s unique needs and goals. We listen carefully and work with you to find the right plan for your family. 
• Continuing care: Our team provides care from infancy through early adulthood. We focus on helping your child at school and during life’s transitions. When they’re ready, we help your child transition smoothly to adult care. This transition ensures continuity of care and reduces stress.
• Wheelchair clinic: We have three locations where children with neuromuscular conditions can be evaluated and fitted for special equipment. Examples include custom wheelchairs, special wheelchairs for travel, walkers and assistive devices, chairs that can help prevent pressure sores, and bath equipment.