Duchenne Muscular Dystrophy (DMD)

Norton Children’s board-certified and fellowship-trained neurologists are the leading providers of Duchenne muscular dystrophy (DMD) care 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 have expertise in their fields and are training the next generation of pediatric specialists.

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

Our multidisciplinary team, in partnership with the Muscular Dystrophy Association (MDA), allows us to have providers in a single clinic from multiple specialties, including neurology, pulmonary medicine, orthopedics, physical therapy, occupational therapy and speech therapy.

What Is Duchenne Muscular Dystrophy?

DMD is a genetic disorder that affects muscles and primarily affects boys. Symptoms start typically 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.

Duchenne Muscular Dystrophy 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 that codes for a muscle protein called dystrophin. Dystrophin is part of the scaffolding in a muscle. When it is abnormal, muscle cells are easily damaged.

Duchenne Muscular Dystrophy Treatment

Our physicians may prescribe medications known as corticosteroids early in the course, as they 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 cough and breathing may be necessary. Our team may prescribe noninvasive breathing ventilators such as a CPAP (continuous positive airway pressure) or a BiPAP (bilevel positive airway pressure) device. Invasive support includes placement of a tracheostomy (a hole in the breathing tube) and use of a ventilator.

If tests show your child’s heart is involved, 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 will 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.

Also part of the University of Louisville, Muscular Dystrophy Association Clinic

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

Contact Us

Connect to the Norton Children’s Hospital Neurology team
(502) 588-3650

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

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