Pediatric Neuromuscular Disorder Clinic

Pediatric neuromuscular disorders encompass a wide range of conditions that affect the neuromuscular system at one or more levels. They include the muscles, the nerves in the spinal cord, the nerves further out in the body (e.g. arms, legs) or the neuromuscular junction where nerves and muscles meet. Neuromuscular conditions present in many ways and at different times in life (infancy, childhood, adolescence, adult). Neuromuscular disorders can be inherited from one or both parents - or can occur randomly

• Symptoms: Patients are commonly affected by weakness or fatigue. Posture, movement, walking, eating, breathing, and sleeping can also be affected. The lungs, bones, heart and other systems may be affected depending on the disease. Most conditions are progressive. Unlike the progression of muscle weakness, cognition often does not worsen with time.
• Treatments: Patients require comprehensive/multidisciplinary care to optimize their health, functioning and to access therapies and new treatments.

A doctor, therapist or caregiver may suspect a neuromuscular disease when a child is noticeably weak or has a delay in meeting developmental milestones. This may include delays in holding their head up, rolling over, sitting independently, standing, or walking. A combination of blood, urine, XRay, MRI, muscle, nerve or genetic tests may be ordered to reach a diagnosis.

Spinal Muscular Atrophy (SMA) Newborn screen

When a baby is born at the hospital, blood is taken to test for a variety of diseases.

As of June 29, 2020, Illinois began screening newborns for SMA.

If a newborn screening result is positive for SMA your child’s doctor will notify you. Follow-up testing and a visit with a neuromuscular specialist are required to confirm the diagnosis.

Newborn screening allows an infant to begin treatment before symptoms appear, when research suggests it may be most effective. At Advocate Children’s Hospital, we offer Spinraza, Zolgensma and Evrysdi treatments.

Multidisciplinary approach

We coordinate a team of pediatric specialists to see your child, all in one visit. Based on your child's diagnosis, the process starts with a personalized care plan designating which specialists will be most beneficial for your child to see.

We also provide time to complete needed testing during that same visit. Examples of testing may include labs, genetic tests and advanced evaluation of the heart and lungs.

Convenient access

We understand the burden that care can have on families. That’s why we strive to provide optimized care with flexibility for patients. This includes extended-hour sick visits as needed. We ensure your child’s care will always be provided by a physician experienced with neuromuscular disorders.

Patient care, research and quality improvement

Our Neuromuscular Disorder Centers place your child’s care as our top priority.

At Advocate Children’s Hospital, we also look to focus on research that has clinical relevance. We strive to partner in research studies that will help quickly move science from the bench to the bedside.

We provide patients access to research studies within our hospital and can also help our patients enroll in various studies throughout the country.

And with the assistance of Cure SMA, we focus on discovering new opportunities to improve outcomes.