Treatments

Treatments

There are a variety of treatment options available, to those with Duchenne Muscular Dystrophy including medicines, medical devices, surgeries, and rehabilitation therapies. When appropriate, each intervention can potentially improve an individual’s health and quality of life. However, there may be risk involved as well, such as undesirable side-effects, so it’s vitally important to discuss therapy options with specialists on the neuromuscular team before deciding to begin treatment. Ultimately, when it comes to beginning any therapy, the final decision should be made by the individual living with Duchenne and/or their family, but only after understanding both the potential benefits and risks involved.

Medications to treat Duchenne

Four medications are currently approved by the FDA to treat Duchenne Muscular Dystrophy. There are also a number of medications that are used off-label to treat symptoms of Duchenne in addition to those that are prescribed to treat secondary conditions.

“Four medications are currently approved by the FDA to treat Duchenne Muscular Dystrophy.”

Exon Skipping Therapies

Exon skipping is an approach used to restore dystrophin production. It’s a technique by which one or more of the dystrophin protein coding exons is skipped over in order to remove the mutation that is causing the disease and allow for a truncated dystrophin to be made. Exon skipping does not alter DNA or permanently remove the mutation in any way, so it requires ongoing treatment. Each exon skipping therapy is developed to treat specific mutations. Mutations that can be treated by an exon skipping therapy are referred to as being amenable to skipping whichever particular exon is being targeted. The FDA has granted accelerated approval to four exon skipping therapies to treat Duchenne. Additional exon skipping therapies are in development and more information will be shared on our news pages (PLEASE NOTE, THIS IS NOT AVAILABLE IN SOUTH AFRICA)

Corticosteroids

Corticosteroids, commonly referred to as steroids, are drugs used to reduce inflammation and decrease immune system activity. In Duchenne, corticosteroids have been shown to improve muscle strength and slow disease progression, and their increased use in early patient management is credited with changing the natural history of the disease. Although corticosteroids can be very beneficial in treating Duchenne, chronic use may also cause undesirable side-effects such as weight gain, short stature, behavioural problems, and decreased bone density, among others. Two corticosteroids are commonly used to treat Duchenne – prednisone/prednisolone and Emflaza (deflazacort). Prednisone/prednisolone is used off‐label to treat Duchenne, whereas Emflaza has been approved by the FDA for use in patients with Duchenne who are 2 years or older (NOT AVAILABLE IN SOUTH AFRICA). Although there are currently four treatments approved by the FDA to treat Duchenne, Emflaza is the only one approved to treat all patients regardless of their underlying genetic mutation.

Medications to Treat Secondary Conditions

Duchenne is a disease that involves the entire body and can be further complicated by unintended effects of medications. Secondary conditions may develop that affect things such as heart function, bone density, growth and development, as well as other bodily systems and functions.

Bisphosphonates

Osteoporosis is a bone disease that develops when bone density and mass decrease. The reduction in bone strength that’s associated with osteoporosis significantly increases the risk of fractures. Individuals with Duchenne have an increased risk of developing osteoporosis, especially those who are no longer able to walk and those who with glucocorticoids. Bisphosphonates are medications used to treat osteoporosis that work by slowing bone breakdown, increasing bone density, and decreasing the amount of calcium released from the bones into the blood.

ACE Inhibitors, ARBs, and Beta-blockers

Duchenne is associated with a heart condition known as cardiomyopathy. This form of heart disease weakens the heart and prevents it from pumping blood efficiently. Cardiomyopathy typically begins in adolescence. Later, the heart muscle becomes enlarged, and the heart problems develop into a condition known as dilated cardiomyopathy. Signs and symptoms of dilated cardiomyopathy can include an irregular heartbeat, shortness of breath, extreme tiredness, and swelling of the legs and feet.
Medications such as ACE inhibitors, ARBs, and beta-blockers can be prescribed to lessen the workload placed on the heart by helping to make it pump more effectively and/or less frequently. Angiotensin is a hormone found in the body that causes blood vessels to narrow and blood pressure to rise. Angiotensin-converting enzyme inhibitors (ACE inhibitors) and angiotensin II receptor blockers (ARBs) both aim to prevent angiotensin from restricting blood flow, but in different ways. ACE inhibitors cause the body to produce less angiotensin whereas ARBs block the receptors angiotensin works on. Epinephrine, also known as adrenaline, is a stress hormone produced in the body. Epinephrine causes an increase in heart rate and blood pressure when it’s released into the bloodstream. Beta-blockers are drugs that block receptors that epinephrine binds to. Blocking this hormone causes the heart to beat more slowly and with less force, which lowers blood pressure.

Medical Devices

A medical device is any apparatus/equipment used to aid the person suffering from a condition. These can include things like wheelchairs, hoists, monitoring equipment etc.

Gastrostomy Tube

A gastrostomy tube, often called a G-tube, is a surgically placed device used to give direct access to an individual’s stomach for supplemental feeding, hydration or medication. G-tubes are used for a variety of medical conditions, but the most common use is for feedings to enhance nutrition. As Duchenne progresses, chewing and swallowing food may become very difficult. If the individual is no longer able to eat enough food by mouth, a G-tube helps deliver the calories and nutrients needed to support their well-being.

BiPAP

Bi-level positive airway pressure (BiPAP) therapy is a type of non-invasive ventilation. Modern BiPAP machines are table top devices fitted with tubing and a mask. The individual simply places the mask over their nose and/or mouth to receive two levels of pressurized air. One pressure level is delivered while taking a breath in, and a lower pressure is delivered while exhaling. By having a custom air pressure while inhaling and a second custom air pressure while exhaling, the machine is able to provide relief to the muscles involved in the process.

Cough Assist

A cough assist machine can help keep airways clear to reduce the chance of recurring respiratory infections by simulating a natural cough. It gradually delivers a large volume of air to the lungs when the user takes a breath in (positive pressure). Once the lungs have been expanded (similar to a normal deep breath), the device quickly reverses the flow to pull secretions out (negative pressure).

Rehabilitation

Rehabilitation management is a key component of overall care for individuals with Duchenne. Physical therapy has been proven to be effective in the Duchenne population throughout all stages of the disease. Physical therapy can aid in maintaining flexibility, range of motion, and mobility. Because Duchenne Muscular Dystrophy is a rare disease with unique needs, it’s important to find a physical therapist (PT) who has experience working with patients who have Duchenne.

Serial Casting

Serial casting is like bracing, but instead of creating an outline of the leg for the braces to go around, plaster is used to make casts over the joint – usually the ankle. The casts are replaced over a period of several weeks to slowly increase the range of motion.

Stretching

Performing a daily stretching routine is the most effective way to prevent loss of flexibility in Duchenne. When done correctly, it can prevent muscle contractures and ultimately improve and prolong physical ability and independence.

Hydro Therapy

Aquatic/Hydro therapy is an excellent option for those with Duchenne Muscular Dystrophy. Pool activities offer many benefits such as buoyancy to reduce the stress on muscles and joints, mild resistance for low-grade muscle work, and respiratory exercise to maintain or increase capacity and breathe control. The pool is also a great place for social interaction and its fun!

Bracing

Bracing of the feet and ankles is important to prevent contractures and bone deformities. Although they are not always preventable, bracing and stretching can minimize the risk while maximizing function of the joint. Bracing helps keep the joints in alignment by providing a constant stretch. The goal is muscle extensibility and joint mobility with the use of either ankle-foot orthosis (AFO’s) or knee-ankle-foot braces (KAFO’s). They are made of plastic and are custom fit by an orthoptist. Bracing is started near the time of diagnosis so the child can get used to wearing them at night and become part of their bedtime routine

Surgeries

Spinal Fusion

Scoliosis, an abnormal curvature of the spine, is a common occurrence in the Duchenne population after becoming non-ambulatory. Scoliosis can make it very difficult for an individual to find a comfortable sitting position. It can also lead to compression fractures in the spine and reduce the amount of space within the chest, making it difficult to breathe. If warranted, spinal fusion surgery can be performed to connect the individual vertebrae together. Rods are placed in the spine to hold the vertebrae in place. Eventually, the vertebrae fuse together to become one.