Duchenne Muscular Dystrophy (DMD)

The board-certified and fellowship-trained neurologists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, are the leading providers of care for children with neuromuscular disorders, including Duchenne muscular dystrophy (DMD), in Louisville, Kentucky, and Southern Indiana.

Norton Children’s Hospital is the pediatric teaching hospital for the University of Louisville School of Medicine. Our physicians are training the next generation of pediatric specialists.

We’ll determine the severity of your child’s DMD and create a treatment plan that minimizes risk, so your child can get back to being a kid.

Our multidisciplinary approach, in partnership with the Muscular Dystrophy Association (MDA), sees patients in a single clinic for multiple specialties, including neurology, pulmonology, orthopedics, physical therapy, occupational therapy and speech therapy.

What is DMD?

DMD is a genetic disorder that affects muscles and primarily occurs in boys. Symptoms typically start between age 3 and 5, with weakness that affects the hips and legs, and results in abnormal walking. As the disease progresses, the weakness affects the upper body as well. That weakness may also affect the heart and respiratory muscles.

DMD Diagnosis

If our team suspects DMD, we will order specific genetic testing through a blood test. Genetic testing will determine if there are abnormalities in a gene associated with a muscle protein called dystrophin. Dystrophin is a vital part of the muscle fiber. When it is abnormal, muscle cells are easily damaged.

DMD Treatment

Our physicians may prescribe medications known as corticosteroids, which have been shown to be effective in slowing the course of DMD. Depending on the specific mutation found in the genetic testing, your child may be eligible for specific gene therapies.

As a child’s muscles that aid in breathing become weaker, assistance with coughing and breathing may be necessary. Our team may prescribe noninvasive breathing devices, such as a CPAP (continuous positive airway pressure) or BiPAP (bilevel positive airway pressure) device. Additional support may include placement of a tracheostomy (a hole in the breathing tube) and use of a ventilator.

If tests show your child’s heart is affected, our team may prescribe medications that slow the course of cardiac muscle deterioration.

As children with DMD lose their mobility, they may need orthotics, braces, walking aids or wheelchairs. Durable medical equipment, such as mechanical lifts, shower chairs and medical beds, are prescribed as needed.

Our team members will discuss diet, exercise and stretching with you and your child to help keep your child’s body as flexible and mobile for as long as possible. Regular visits to physical therapy and occupational therapy are important. The orthopedic team also will monitor your child’s bone health. Children with DMD are at increased risk for scoliosis, and our team will monitor this.

Why Norton Children’s Neuroscience Institute?

  • The Norton Children’s Hospital Comprehensive Epilepsy Center is a Level 4 epilepsy center, the highest rating available from the National Association of Epilepsy Centers. Norton Children’s Hospital has held this designation since 2013.
  • We are the first in Kentucky and among the first in the nation to use neurostimulation in a pediatric patient.
  • Regional neurology care is available for children across Kentucky and Southern Indiana. We travel to clinics in Bowling Green, Campbellsville, Corbin, Elizabethtown, Frankfort, Owensboro and Paducah, Kentucky; and Evansville, Indiana. We also perform a number of telemedicine visits each week.
  • The specialists with Norton Children’s Neuroscience Institute, affiliated with the UofL School of Medicine, use state-of-the-art technology to treat epilepsy, uncontrollable seizures and deep brain tumors in children who, in the past, would not be candidates for surgery, including:
    • Visualase: Technology that allows neurosurgeons to perform MRI-guided laser ablation surgery. Fewer than two dozen pediatric hospitals in the U.S. offer this technology.
    • Surgical Theater: Virtual reality technology that creates an immersive 3D view of a patient’s brain, allowing neurosurgeons, the patient and family to see inside the skull and brain to get a greater understanding of the condition and impact of potential procedures. Norton Children’s Hospital is the first hospital in the region to use this technology.
  • We offer dedicated multidisciplinary clinics for brain tumors, traumatic brain injuries, spina bifida, craniofacial injuries and disorders, epilepsy, muscular dystrophy, spasticity, headache/migraine, autism and neurocutaneous disorders.
  • Our multidisciplinary craniofacial program was the first established in the Midwest.
  • We offer a neurogenetics clinic to evaluate and treat children with neurogenetic syndromes.
  • We have a neuropsychology program that specializes in the evaluation of children and teens with a variety of neurological, neurodevelopmental and medical conditions, including brain tumors and epilepsy.
  • Outpatient neurology facilities in downtown Louisville are equipped with in-office electroencephalography (EEG) capabilities and laboratory services in the same building, creating a streamlined, family-centered environment.
  • We offer the region’s first clinic to treat children with immune-mediated neurological disorders.

Debbie Gilbert, family advocate
Brittany Hornickel, nurse coordinator
Teresa Javier, Speech therapist
Lynn Lukins, physical therapist
Hannah Ragan, occupational therapist
Leah Todd, social worker
Jessica Waits, Muscular Dystrophy Association clinic coordinator

Neuroscience

Norton Children’s Neuroscience Institute

Connect with the Norton Children’s neurology team
(502) 588-3650

Connect with the Norton Children’s neurosurgery team
(502) 583-1697

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