The news of your child’s Duchenne muscular dystrophy (DMD) diagnosis can feel like the ground beneath you has vanished. At UK HealthCare, we understand the weight of this diagnosis, and we want you to know you are not alone.
DMD is a genetic condition that affects muscle strength. While it's a challenging condition, significant progress has been made in DMD care. With early diagnosis, a comprehensive treatment plan and ongoing support, children with DMD can live active and fulfilling lives. UK HealthCare provides outstanding, advanced care for people with DMD across Kentucky.
What is DMD?
DMD is the most common type of muscular dystrophy, which is a genetic disorder that causes progressive muscle weakness. While DMD primarily affects boys, girls and women can carry the gene mutation that causes DMD and may have symptoms. Women who are carriers can also pass the gene on to their children.
While DMD is a condition that worsens quickly, a milder type of DMD, known as Becker muscular dystrophy, progresses more slowly.
The good news is that significant progress has been made in DMD treatment. With promising new treatments, the outlook for patients with DMD in Kentucky is improving.
You’re in good hands at UK HealthCare
Our team at UK HealthCare provides exceptional care for children with Duchenne muscular dystrophy. Children with DMD who are diagnosed or treated at UK HealthCare benefit from the collaboration between UK Kentucky Neuroscience Institute and Kentucky Children’s Hospital. Patients are treated by a team of specialists who all have extensive experience in managing DMD. We understand the unique needs of each child and family, and we'll work closely with you to develop a personalized plan that optimizes your child's well-being.
Our board-certified child neurologist is part of a multidisciplinary team of specialists who collaborate on the management of complex pediatric neurology conditions. This team includes providers from various disciplines, such as cardiology, pulmonology, and physical medicine and rehabilitation. We proudly offer the latest treatments close to home in Lexington, so you don’t have to travel far to get the most advanced, comprehensive care.
Additionally, the child neurology program includes the Neurodevelopmental Evaluation and Management Optimization (NEMO) Clinic. This clinic includes physical, occupational and speech therapists, as well as a psychologist. They will see the patient at the same visit as the child neurologist to provide detailed evaluations and develop thorough care plans. This subspecialty clinic also offers additional resources for addressing developmental concerns.
Signs and symptoms of Duchenne muscular dystrophy usually appear before age 6 and sometimes as early as infancy. In some cases, developmental delays are the first symptoms, even before muscle weakness begins. Children with DMD may start walking later than normal, and toddlers may have large calves.
In addition to muscle weakness, other symptoms can include:
- Fatigue
- Intellectual disability
- Problems with learning
Muscle weakness usually begins in the legs and pelvis but can also affect the arms, neck and other body parts.
Symptoms related to muscle weakness include:
- Falling often
- Having trouble climbing stairs or getting up from the floor
- Running slowly
- Having trouble hopping or jumping
- Walking on the toes or balls of the feet or waddling
Muscle weakness gradually worsens over time, and many children lose the ability to walk by age 12. Eventually, DMD affects the heart muscle, which can cause shortness of breath and swelling of the feet. Breathing problems develop as well.
Muscles need a protein called dystrophin to function properly. In people with Duchenne muscular dystrophy, the dystrophin gene is mutated, or changed, which prevents it from making enough of the dystrophin protein. This change leads to muscles being unable to work as they should, with symptoms worsening over time.
DMD is an inherited disorder. However, it can also occur in children with no family history of the disease. Sons of women who are carriers of DMD have a 50% chance of having the condition, while daughters have a 50% chance of becoming carriers.
Duchenne muscular dystrophy is a disease that can progress quickly and cause disability and a shortened lifespan. However, advances in treatments allow many children and adults with DMD to lead more active lives. At UK HealthCare, we monitor research and take part in clinical trials to push medicine forward and ensure that your child has access to the latest developments.
For patients with an existing diagnosis
If you and your child come to UK HealthCare with a diagnosis of DMD, you’ll be seen by a board-certified child neurologist, as well as other members of the multidisciplinary NEMO Clinic, during your initial visit. The team will assess your child for loss of muscle function and determine the need for more services. This subspecialty clinic offers a comprehensive approach to care and provides additional resources for addressing developmental concerns.
The NEMO Clinic team includes psychologists and occupational, physical and speech therapists who work closely with neurologists to ensure children receive the care they need. During your first visit, you will also be paired with a nurse or social worker who will provide guidance, resources and support throughout your child’s care journey.
For patients without a diagnosis
If another healthcare provider, such as a pediatrician, suspects your child has DMD, you will be referred to our clinic. You will meet with our board-certified child neurologist, who has extensive experience in the condition. Your child will have genetic testing performed to confirm the diagnosis.
Following a diagnosis, you and your child will meet other specialists from our multidisciplinary NEMO Clinic team. This team, which includes a psychologist along with physical, occupational and speech therapists, will work together to assess your child. They will look for any signs of muscle weakness and identify the need for additional services.
The specialized NEMO Clinic offers a one-stop shop for your child’s care. We provide a comprehensive approach, tackling both physical needs and developmental concerns. Additionally, you’ll be paired with a nurse or social worker who can connect your family with valuable resources to support you on this journey.
Your care team at UK HealthCare stays up-to-date on important clinical trials. When clinical trials are available for new DMD treatments, your care team will help facilitate your involvement, either through UK Kentucky Neuroscience Institute or another facility.
