People with Duchenne, especially those taking steroids, have weak bones (osteoporosis). Osteoporosis means that the bones are thin and fragile, making people with Duchenne more at risk for fractures. The most common types of fractures in people with Duchenne are of the leg, including the femur, tibia and fibula. The femur bone, or thigh bone, is the long bone that runs from the hip to the knee. The tibia and fibula are the two smaller bones located in the lower leg. Osteoporosis of the leg bones have been found in even young children with Duchenne.
Since these leg bones support a lot of weight when moving around, they are at risk for fractures with even low trauma. Leg bone fractures can happen as a result of a fall whether it be while walking, during a transfer, or slipping from a chair or wheelchair. Fractures can even result from “bumps” or injuries that that did not cause any or minimal pain or discomfort.
How do I know if my child broke their femur?
Due to the risk for femur fractures with low trauma, it is important to know the signs and symptoms of a possible femur fracture:
- Severe pain, which may worsen with movement
- Swelling of the leg
- Bruising of the leg
- Deformity or shortening of the leg
- Inability to walk (if ambulatory)
What should I do if I suspect a femur fracture?
If you suspect that you or your child has sustained a fracture, it is important to take prompt action. You should go to the emergency room as quickly as possible to avoid harmful risks such as infection, loss of ambulation, and fat embolism syndrome. It is imperative you bring your emergency card or download the PPMD app to show to the emergency room staff. As with every emergency, you should contact your neuromuscular specialist (NMS) so they are aware of the condition.
If it found that you or your child has indeed fractured their leg, you will need to be connected with an orthopedic specialist to make a treatment plan. It is important your NMS oversees this treatment process, whether it may be casting or surgery, to ensure you or your child are receving the most optimal care.
Fat embolism syndrome
Fractures can have serious effects such as fat embolism syndrome (FES). FES is a collection of symptoms and complications that result from the presence of a fat emboli (or fat particle) in the blood. This is a result of fat inside the bone being released into the bloodstream due to the fracture. To read more about the signs and symptoms of FES and what to do in this emergency, please visit our Fat Embolism Syndrome page. While FES is rare, it requires immediate medical attention.
How can a leg fracture be treated?
There are both surgical and non-surgical treatment options for fractures of the leg. The decision of which intervention to undergo should include input from your neuromuscular care team as well as an orthopedic specialist. Factors that should be considered include ambulation status, severity and location of the fracture.
In some situations, internal fixation or surgery to stabilize the fracture is a good option. An orthopedic surgeon will physically reconnect the broken bones using screws, plates, or rods. This allows the bones to be put back in the correct alignment and heal properly. As with any surgery, it is important to understand the extra risks associated with having Duchenne and take precautions.
If your child is still ambulatory, surgery may allow earlier mobilization to avoid loss of any strength or function. The goal after surgery is to get up as soon as possible and begin weight bearing quickly after surgery. Your NMS and rehabilitation team can work with you to develop a plan for recovery.
If you or your child is non-ambulatory, surgery may be necessary if the fracture is unstable or complex. This is because it may lead to lasting pain issues and discomfort if the bone heals incorrectly.
Casting the leg without surgery may also be an option for you or your child. For femur fractures, we recommend full-leg casts with a straight knee and a neutral ankle position. This allows the fracture to heal without increasing the risk for developing contractures while the leg is bent and immobile. If possible, the orthopedist should make the cast “weight bearing” to allow for continued ambulation and standing as able.
If you or your child is no longer ambulatory, splinting may be an option for stable fractures. If the goal is to no longer bear weight, splinting may be sufficient for bone healing and pain control.
While using a walker after a leg fracture may seem like a good idea, it is actually dangerous if you have Duchenne. People with Duchenne usually walk with a tilted pelvis (hips forward), a swayed back, and shoulders back; this puts their center of gravity, actually behind their knees. Using a walker moves the center of gravity forward, making it very easy to lose your balance. In addition, a walker forces you to use your arms (to maintain much of your weight and push the walker forward). Since most people with Duchenne have weaker arms, this is not a safe assistive device to use.
Can I prevent fractures from happening?
There are many ways to avoid accidents from happening as well as monitoring bone health.
The most common cause for leg fractures are falls. It is important to stay safe to prevent falls, thus avoiding fractures form happening. If your child is still ambulatory, it is important to keep shoes on most of the time to avoid slips, try and keep paths in your house clear to avoid tripping, and watch for overexersion. Children with Duchenne may get tired more easily, and it is always a good idea to take a rest or use mobility devices (scooters, etc.) when needed. Keep in mind that some falls cannot be prevented despite every effort you make.
If you or your child is not ambulatory, it is still important to take safety precautions. This includes providing safe transfers to chairs, beds, or in the shower. It is also important to always wear seatbelts in wheelchairs and the car.
Monitoring bone health
People of all ages living with Duchenne have weak bones, especially if they are taking steroids. Steroids cause bone to have a lower bone mineral density and an increased risk for fractures. DEXA scans are a good tool to evaluate bone health and help determine if you may be at risk for bone fractures. It is recommended you or your child have DEXA scans yearly after starting steroids; however, DEXA scans do not provide a full picture of bone health. Lateral lumbar x-rays of the lower spine use a “Genant Score” to measure the height and shape of the vertebrae (bones in the spinal column) and the space between the vertebrae. A Genant score that is moderate or severe indicates vertebral compression fractures, and is a sign of osteoporosis. The combination of DEXA scans and lateral lumbar x-rays are the best tools for monitoring bone health.
If you or your child are found to have osteoporosis, it is a good idea to begin seeing an endocrinologist if you aren’t already doing so. An endocrinologist can monitor the health of your bones and help you make a treatment plan. An endocrinologist may prescribe calcium or vitamin D supplements or bisphosphonate therapy to optimize bone health.
Bisphosphonates are medications given to treat osteoporosis. Bisphosphonates can be given orally (by mouth) or through an IV. The goal of bisphosphonate therapy is to increase the density of the bones of the body. Increasing the density of bones decreases you or your child’s risk for a fracture.