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FINN, living with Duchenne,
and his brother.

Managing Duchenne

Steroids

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Steroids, especially a type of steroid called corticosteroids, are the most common medications used to manage the symptoms of Duchenne. A doctor may prescribe these drugs to help slow the muscle damage and weakness caused by the disease. They work, in part, by reducing inflammation—or swelling—in the muscles. They may also help the heart and lungs remain stronger longer, reduce the chance of having a severely curved spine (a condition called scoliosis), and extend the ambulatory period. However, doctors have different opinions about the best types and doses of corticosteroids to use.

 

Exon-Skipping Strategies

 

Many people with Duchenne have a genetic mutation in which one or more exons (a portion of a gene) in the dystrophin gene are missing.

The dystrophin gene is the largest gene in the body and is made up of 79 exons that are linked together to form the instructions for making dystrophin. Most commonly, Duchenne is caused by a genetic mutation in which one or more exons are missing.

Exon skipping allows the body to "skip over" errors in the dystrophin gene to make a shorter form of dystrophin.

Learn more about how exon skipping is intended to work:

Think of the exons like toy train cars, each with a special connection that allows one car to connect to another. The connections between cars must match, so they can connect to one another and make it possible for the train to move.

Missing exons are like missing train cars. When one or more cars are missing, the connections between them no longer line up.

If we skip over a certain exon, or car, we can restore the connection between the remaining cars to create a shorter train.

Note that exon-skipping treatments are designed for patients with amenable mutations in the dystrophin (DMD) gene. These mutations are determined by genetic testing.

Psychosocial, Cognitive, and Behavioral Therapy

Patients with Duchenne may also have cognitive symptoms such as speech and language delays; psychological symptoms such as anxiety, anger, and depression; and behavioral symptoms such as problems interacting with others, sitting still, or concentrating. Psychosocial and cognitive therapy, such as speech and language therapy, can help with these symptoms. Periodically, your child’s doctor will evaluate behavior and learning, as well as emotional, psychological, and social functioning.

Boys with Duchenne are also more likely to have autism spectrum disorder (ASD). Symptoms of ASD include anxiety, difficulty coping with uncertainty, extreme sensitivity to light and sound, poor social communication, repetitive movements and language, as well as restricted interests (strong interests in specific topics).

If your child has symptoms of ASD, be sure to mention this to your child’s doctor, who may refer you to a psychologist or psychiatrist. The Autism Speaks and PPMD websites discuss different types of ASD therapies, including Applied Behavior Analysis, Floortime, TEACCH, and Relationship Development Intervention. Many of these therapies are behavioral therapies that are designed to improve social and communication skills.

Day-to-Day Maintenance Therapy

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Physical therapy can be helpful in maintaining flexibility, strength, and physical function. For example, daily stretching and wearing night splints or braces on the feet and ankles may help keep joints mobile. Swim and aquatic therapy can also be helpful in maintaining joint mobility and preventing shortening and tightening of the muscles. If your child is not ambulatory, standing devices, as well as custom seating and power positioning features on wheelchairs, can also help prevent muscle tightening.

Cure Duchenne offers a full range of physical therapy resources for families of children with Duchenne, in addition to providing a certification program for physical therapists seeking the specialized training required to address the unique needs of individuals with Duchenne.

Managing Associated Conditions

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Duchenne patients may need medications for conditions that are often associated with Duchenne. One of these conditions is heart disease, including heart rhythm problems and heart failure. Medications such as angiotensin-converting enzyme (ACE) inhibitors, angiotensin receptor blockers (ARBs), and beta-adrenergic inhibitors are commonly used to treat heart disease associated with Duchenne. People with Duchenne may also have lung conditions or breathing difficulties such as shortness of breath, mucus plugging (mucus getting stuck in the lungs), and pneumonia. Therapies include manually—or mechanically—assisted coughing (using an assistive device) to remove mucus from the lungs, as well as ventilation with positive airway pressure devices to improve breathing during sleep.

Osteoporosis is a common condition among people with Duchenne who are treated with steroids, and can result in fractures in the leg bones or in the vertebrae of the spine. These fractures may in turn lead to premature loss of ambulation, chronic back pain, and spine abnormalities. Intravenous bisphosphonate is often used to treat osteoporosis in Duchenne. Stretching, splints, braces, and surgery are also used to manage and prevent fractures, contractures, and curvature of the spine (see Day-to-Day Maintenance Therapy above).

Where Else Can I Find Support? 

Your child's care team will be there to partner with you and your family every step of the way. A multidisciplinary Duchenne care team may include numerous people, each specializing in different areas. Your child's care team will be structured to your family's needs and is typically led by a neuromuscular specialist.

A Duchenne care team may 
include the specialists below:

 

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