At Kid PT we are passionate about the courageous lives of the children and young adults we support. September is Muscular Dystrophy Awareness month and we want to share with you some of the specifics of this condition we know so well.

What is Muscular Dystrophy?

Muscular dystrophy is a progressive, muscle wasting disease. It is caused by a mutation of the gene that is responsible for making the dystrophin protein. Dystrophin is important in providing stability to the muscle cells as it acts as an anchor between the inner parts and the outer layer of the cell. When this protein is absent or damaged, the muscle cells will break open easily which leads to muscle cell death. This can affect all the muscles in the body including the muscles used for walking, talking, breathing, swallowing, and even the muscles of the heart. 

There is a spectrum among the varied types of  muscular dystrophy that range in severity, location of muscles affected, type of gene mutation, and when symptoms begin from early childhood to adulthood. Specifically, today we will discuss Duchenne Muscle Dystrophy (DMD) as it is one of the most common types. About 15,000 boys in the US have DMD and there are about 300,000 cases worldwide. DMD occurs primarily in boys and the onset of muscle weakness is typically noticed by ages 3-5. Boys with DMD typically will lose their ability to walk around the age of 10-12 years old and have a life expectancy that extends into the mid 20s and early 30s.

Management of DMD:

Due to the wasting of muscles and reduced dystrophin throughout the body, individuals with DMD are at increased risk for fractures, scoliosis, falls, heart disease, difficulty breathing, skin breakdown, learning disabilities, respiratory infections, difficulty swallowing, and other complications. Management of muscular dystrophy requires collaboration of a multidisciplinary team in order to address the multiple systems that are impacted by DMD. Some of the key players on the care team are primary care physicians, cardiologists, pulmonologists, neurologists, psychologists, orthopedists, respiratory therapists, dieticians, nutritionists, nurses, physiatrists, physical/ occupational/ speech therapists, and social workers. As there is no known cure, treatment traditionally consists of use of steroids, respiratory support, supplements, and a variety of medications and equipment to manage the varied accompanying symptoms. Despite these problems, we’ve seen such vibrant joy in victories small and large as these young people reach goals they may have lost hope for.

How PT contributes:

Physical therapy is very different for people with DMD compared to the general public as certain strengthening activities can be harmful to the integrity of their muscles. Physical therapists are key players in monitoring the disease progression, implementing an appropriate home stretching program, educating families and schools on the capabilities of those with DMD, and recommending the use of night splints. As physical therapists are movement specialists, they assist clients with DMD and their families by providing activity modification recommendations, preserving optimal joint mobility and tissue flexibility, recommending environmental modifications, ensuring trunk and ribcage mobility for breathing and also ease of movement, monitoring and managing scoliosis, and recommending and adjusting appropriate mobility aids and assistive devices when walking requires too much energy demands and becomes a safety concern. The physical therapist’s goal is to help the child or adult with DMD to stay as mobile as possible and conserve energy in order to access varied settings from their home to school to places of amusement including sporting events, concerts, amusement parks, and travel destinations with the highest level of independence and safety as possible without overdoing it and causing undue damage. We’ve seen social engagement, connection with others, pursuing activities of interest, and reaching personal goals bring meaning and joy to the lives of our clients and are privileged to be part of the process to help our clients with DMD live to the fullest. 

Promising Research Developments:

Research has led to significant progress towards discovering effective treatments for DMD. Today adults with DMD are living longer and maintaining independent mobility for longer periods of time compared to only a few decades ago. The advances in research that have been made continue to improve the quality of life of people with DMD. More breakthroughs are on the horizon as new gene-based therapies and exon skipping treatments are being developed which have the potential of reducing and halting disease progression. At Kid PT we are always on team hope that the future for those living with DMD will continue to brighten and that our role as therapists will continue to evolve with these advances in technology and research.

Resources for Information and Donations 

For more information on DMD and also foundations that you can donate to support both the research and children and adults with DMD see below:

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