Neuromuscular Clinic at Nemours Children’s Hospital, Florida – Providing Comprehensive Care for Children with Neuromuscular Disorders

By Omer Abdul Hamid, MD

The neuromuscular clinic at Nemours Children’s located in beautiful Lake Nona, a thriving suburb of Orlando, is a specialty clinic supported and certified by the Muscular Dystrophy Association (MDA). Our clinic provides comprehensive medical care by a multi-disciplinary team for children who have neuromuscular disorders.

Pediatricians and other healthcare providers identify an abnormality on a child’s exam that may include low muscle tone, not meeting motor milestones, changes in physical function without cause, or regression in motor milestones, prompting them to refer the child to the neuromuscular clinic. The neuromuscular neurologist and advanced registered nurse practitioner meet the families and perform detailed evaluations to determine what diagnostic tools are needed. Common diagnostic measures used to identify neuromuscular conditions are electromyography (EMG) and nerve conduction studies (NCS) to determine the presence and extent of nerve damage, muscle ultrasound which is noninvasive and provides a dynamic way of evaluating the muscles in clinic, or muscle biopsy to have a more detailed look at the muscle fibers. Additional genetic testing is also performed to identify specific gene mutations.

Our neuromuscular care team is led by a pediatric neurologist and advanced registered nurse practitioner who specialize in neuromuscular conditions and aid in the diagnosis, treatment, and follow-up care for children with neuromuscular conditions. The team also consists of a physical and occupational therapist who assess patients’ strength, range of motion, coordination, mobility, self-care skills, and adaptive equipment needs to make recommendations for community therapies and assist in maximizing independent function. The therapists also complete all necessary performance testing required for medication authorizations. The registered dietitian nutritionist (RDN) provides evidence-based nutrition counseling to help children with neuromuscular disorders get the nutrients they need to provide favorable growth and nutrition balance for optimal health. Another important member of the team is the licensed clinical social worker who provides support for children and families to manage the emotional and financial challenges that come along with having or raising a child with a neuromuscular disorder. A neuromuscular program coordinator and neuromuscular RN support the team and families with coordinating care, prior authorizations, scheduling, insurance forms, and more.

Neuromuscular disorders are complex conditions and can affect a child’s physical, cognitive, and emotional development. At Nemours Children’s, we recognize that to provide comprehensive care for the children in our neuromuscular clinic, the entire team must collaborate and coordinate with healthcare professionals who have considerable expertise in a variety of areas. These often include cardiologists, pulmonologists, endocrinologists, physiatrists, gastroenterologists, psychologists, psychiatrists, geneticists, and orthopedists. Multidisciplinary care is essential, so our neuromuscular clinic works diligently with the other specialists to develop and provide a comprehensive treatment plan that ensures each child is receiving the best possible care.

There is no cure for most neuromuscular disorders, but there are a variety of treatments available today that can help improve a child’s quality of life. There are medications that can be prescribed to help improve muscle strength, reduce pain, and manage other symptoms of a neuromuscular disorder. Physical, occupational and speech therapies are often recommended to assist children with their physical and cognitive functions and increase their potential to interact with the environment around them. Nutrition counseling by an RDN can help children maintain a balance with nutrient intake to promote optimal growth and wellness. In some cases, surgery may be required to correct an orthopedic deformity and improve pain, posture and overall function.

In addition to traditional treatments, there is ongoing research to develop medications that can impact the root cause of some neuromuscular disorders. We are committed to conducting research and has been involved in several research trials, some of which have led to the development and FDA approval of treatments for spinal muscular atrophy and Duchenne muscular dystrophy. These treatments now offered to Nemours Children’s patients include exon skipping medications for children with Duchenne muscular dystrophy, gene transfer therapies to provide healthy copies of the SMN1 gene to children with spinal muscular atrophy (SMA), antisense oligonucleotides to reduce, restore, or modify protein expression helping produce more SMN protein in children with SMA, and immune modulating medications to help children with myasthenia gravis and chron- ic inflammatory demyelinating polyneuropathy (CIDP) improve their muscle strength.

As one of only of only three pediatric MDA Care Centers in the State of Florida, our clinic supports patients from the entire Southeast region of United States (Florida, Alabama, Georgia, South Carolina) to Central and South America (Ecuador, Trinidad, Puerto Rico). With over 10 years of experience as a recognized MDA clinic, we have a long-established neuromuscular program. Our team has a deep understanding and efficient processes in place to diagnose, treat, and manage care for these rare plus complex diseases. The neuromuscular clinic at Nemours Children’s is also registered with the state of Florida as a newborn screening treatment center for SMA. This allows us to diagnose and treat babies quickly to minimize loss function that occurs quickly at an early age.

One of our patients was born in Florida and had a positive newborn screening for SMA. The family decided to pursue treatment and care at Nemours Children’s Hospital, Florida in Orlando. The patient was started on Spinraza at 2 weeks of age then dosed with Zolgensma at 7 months after his titers decreased to allow treatment. Now at 9 months old, he continues to not have any observable symptoms of SMA with good vigorous movements of all his limbs, good strength throughout and normal reflexes without tongue fasciculations.

The family meets regularly with our neurologist in person, via telehealth, and over the phone. The patient completes regular functional testing with our neuromuscular therapists to track his milestones, strength, and progress. He is monitored by our dietitian to ensure appropriate weight gain and nutritional intake. Our RN is in regular contact with the family to ensure labs are completed appropriately and in a timely manner. The program coordinator has managed the prior authorizations for his expensive treatments. The social worker met with the family to offer support, asses for resource needs, provide health insurance benefit information, and offer emotional support.

To learn more about our clinic, visit Nemours.org/services/ neuromuscular-disorders.