The multidisciplinary Center for Pediatric Neuromuscular and Rare Diseases is a collaborative effort between two colleges and seven divisions or departments at the University of Florida. Our neuromuscular program cares for infants, children and teens with neuromuscular disorders. The specialists in our program are experienced in treating children with muscular dystrophy and other myopathies, neuropathies, motor neuron diseases and neuromuscular junction disorders.
UF Health’s Neuromuscular Program has been recognized by the Muscular Dystrophy Association as a nexus for expert clinical care and medical research. Our physicians and scientists are active participants in clinical trials and continue to research causes and possible new treatments for neuromuscular disorders.
More information coming soon about our Neuromuscular Rehabilitation program. Please check back.
Why would your child be referred to our program?
Your child may be referred to UF Health’s Neuromuscular Program if he or she has any of the following symptoms:
- Low-muscle tone (hypotonia)
- Delay reaching motor milestones
- Difficulty walking
- Joint contractures
- Changes in joint structure
- Recurrent rhabdomyolysis
- Poor exercise endurance
Genetic testing: Your child’s genetic fingerprint
With the advent of genetic testing physicians can now make a diagnosis by testing a patient’s blood or saliva sample. Saliva samples can help physicians diagnose subtypes of limb-girdle disease, while Duchenne muscular dystrophy, Charcot-Marie-Tooth disease and spinal muscular atrophy are typically diagnosed using a blood test. A muscle biopsy may still be required to distinguish between Duchenne muscular dystrophy and Becker muscular dystrophy.
Most patients are referred to our neuromuscular program with a diagnosis however, if your child remains undiagnosed we can facilitate his or her genetic testing and help you understand the results.
If you have a child with a neuromuscular disorder, carrier testing can provide valuable information to you and your family. Carriers are usually healthy; however, they have a risk of passing on a genetic condition to their children. For information about carrier testing please ask your primary care doctor or one of our clinic providers about Natera Horizon™ Advanced Carrier Testing.
We have all the specialists your child needs
Our specialists have decades of experience diagnosing and treating all types of neuromuscular diseases. Neuromuscular diseases affect each child on a clinical, social and emotional level therefore, our program fosters a collaborative environment for these to experts to create an individualized care plan that meets your child’s needs and maximizes his or her quality of life. This collaborative approach ensures that your child receives the best possible care. A unique feature of our clinic is that it brings together the many specialists whose expertise are needed to care for children with neuromuscular disorders. This means your child can see all of their providers at the same time, in the same place. Our program includes specialists from a variety of fields:
- Hematology and Oncology
- Physical Therapy
- Occupational Therapy
- Physical Medicine & Rehabilitation
Our care network also includes specialists in gastroenterology, orthopedics, pediatric general surgery, and other specialties at UF Health Shands Children’s who are experienced in caring for children with neuromuscular disorders. Therefore, if your child needs to see a specialist outside of clinic, we can send you to someone who has specialized expertise to meet your child’s needs.
In addition to the above services, a representative from the MDA attends our weekly clinic to answer any questions you may have as to the resources offered by the MDA for your child.
Conditions We Treat
Each year, we care for over 350 patients from all across North America, South America, the Caribbean, and Puerto Rico with a wide range of neuromuscular disorders. Any patient who has a neuromuscular disease and would benefit interdisciplinary care is welcomed into the center. The following are diseases we currently provide patient care for:
- Acquired myopathies (polymyositis, dermatomyositis)
- Acquired neuropathies and polyneuropathies (Guillain-Barre syndrome, chronic inflammatory demyelinating polyneuropathy)
- Barth Syndrome
- Charcot-Marie-Tooth disease/Hereditary myopathies
- Centronuclear myopathies
- Congenital muscular dystrophy
- Congenital myopathies (RYR 1, MTM 1, nemaline)
- Dystrophinopathies (Becker and Duchenne muscular dystrophy)
- Emery-Dreifuss dystrophy
- Facioscapulohumeral muscular dystrophy
- Juvenile amyotrophic lateral sclerosis (ALS)
- Friedreichs ataxia
- Glycogen storage disorders (Pompe, McArdle, von Gierke)
- Limb-girdle muscular dystrophy
- Mitochondrial myopathies
- Myasthenia gravis
- Myotonic dystrophy
- Spinal Muscular Atrophy
Follow-up Care – It’s Important
Our team provides lifelong consultative care for your child, including regular visits to maintain up-to-date treatment and support. Depending on the level of care your child needs, our experts may recommend you follow up with them a variety of time points throughout the year. A summary of your visit with us will be provided to your child’s primary care physician following each appointment.
What happens when I reach the upper age limit for pediatrics?
Once you turn 21, our neuromuscular team will begin the process of transitioning you to adult pulmonary, cardiology and neurology providers within the UF Health system. As a note, our team does not manage adult-onset neuromuscular disorders. If your son or daughter has been diagnosed with an adult-onset neuromuscular disorder, we encourage you to request an appointment with the adult neuromuscular division at UF Health Shands Hospital.