How Physical Therapy is Giving DMD Patients New Hope

The Global Context of Duchenne Muscular Dystrophy

Duchenne muscular dystrophy (DMD) is part of a broader global health issue affecting millions worldwide. Muscular dystrophy encompasses a group of genetic disorders characterized by progressive muscle degeneration and weakness. Among these, DMD is one of the most severe and common forms, primarily affecting boys. Understanding the global burden of DMD is essential for developing effective treatment and support strategies.

Epidemiology of Duchenne Muscular Dystrophy

DMD is caused by mutations in the DMD gene on the X chromosome, which codes for dystrophin, a protein crucial for muscle function. The disorder predominantly affects males, with an estimated incidence of 1 in 3,500 to 5,000 live male births globally (Emery, 1991). Due to its genetic nature, the prevalence of DMD is consistent across different populations and regions. However, variations in diagnosis, healthcare access, and treatment availability lead to differing outcomes worldwide. In high-income countries, early diagnosis and advanced treatments have improved the quality of life and life expectancy for individuals with DMD. Conversely, in low- and middle-income countries, limited access to healthcare services and therapies results in poorer outcomes. Addressing these disparities is crucial for improving the global management of DMD and other muscular dystrophies (Bushby et al., 2010).

The Importance of Physical Therapy in Managing DMD

Physical therapy forms the cornerstone of a comprehensive treatment plan for DMD. The primary goal is to preserve muscle function and delay the progression of symptoms. A knowledgeable physical therapist can design a therapeutic exercise program tailored to the unique needs of each individual, helping maintain flexibility, range of motion, and muscle strength while addressing changes in mobility (Muscular Dystrophy News, 2024).

Benefits of Physical Therapy for People with DMD

Physical therapy's benefits extend across all stages of life for those with DMD. Whether it’s a child who can still run and play, a teenager with reduced mobility, or an adult relying on mobility aids, physical therapy adapts to meet their needs. The therapy aims to maintain mobility by helping sustain the ability to walk, climb stairs, and perform daily activities. It enhances muscle strength and flexibility through targeted exercises that work on both proximal muscles (like shoulders and hips) and distal muscles (such as those in the feet and hands) to counteract muscle weakening. Additionally, physical therapy helps prevent contractures, reducing the risk of muscle shortening and joint stiffness, common issues as DMD progresses (Wallace, 2024).

DMD Personalized Therapy Plans

Physical therapists assess each individual's abilities rather than relying solely on age to gauge disease progression. Jennifer Wallace, a seasoned physical therapist specializing in DMD, underscores the importance of personalized therapy plans. In younger children, subtle signs of DMD can be observed even when they appear mostly normal. As the disease progresses to the middle stage, maintaining existing skills becomes crucial. In later stages, therapy focuses on enhancing balance and functional movement to delay the loss of abilities such as walking (Wallace, 2024).

Suitable Exercises for Different Stages of DMD

Exercise programs must be carefully tailored to avoid causing muscle damage. During puberty, the simultaneous occurrence of muscle loss and growth spurts can exacerbate stiffness and joint contractures. Wallace advises against high-resistance activities and promotes gentler exercises that help maintain muscle function without causing harm. Suitable exercises include aquatic therapy, where walking in a pool provides gentle resistance that strengthens muscles without overstressing them. Cycling, using an exercise bike or power-assisted bike, can help maintain leg strength and cardiovascular health. Simple bodyweight exercises like lifting arms can preserve muscle strength in the shoulders and arms (Wallace, 2024).

Incorporating Stretching and Assistive Devices

Stretching is essential for preventing contractures and maintaining joint flexibility. Physical therapists might use tools like foam rollers and stretching straps to support these exercises. Daily self-stretching, guided by a caregiver if needed, helps individuals maintain independence. Assistive devices, including manual and power wheelchairs, play a critical role in enhancing quality of life. Training on advanced devices, such as robotic arms or alternative wheelchair controls, can significantly improve mobility and daily functioning (Shapiro et al., 2004).

The Role of Parents and Caregivers

Parents and caregivers are integral to the success of physical therapy. They often participate in sessions to learn how to assist with stretching exercises and support the individual at home. Continuous education through programs like CureDuchenne’s certification ensures that caregivers and physical therapists stay updated on best practices. This collaborative approach helps maintain the individual's physical condition and maximizes the benefits of ongoing medical treatments (CureDuchenne, 2024).

Current Research and Advances

Ongoing research is crucial in the fight against DMD, focusing on understanding the disease better and finding new treatments. Several promising areas of research include gene therapy, which explores ways to correct or replace the faulty DMD gene to restore dystrophin production. Early clinical trials have shown potential in slowing disease progression (Mendell et al., 2020). Exon skipping aims to skip over faulty parts of the DMD gene, allowing for the production of a functional, albeit shorter, version of dystrophin. Drugs like eteplirsen have been developed using this method and are currently available for some DMD patients (Aartsma-Rus & van Putten, 2020). Research on stem cell therapy is being conducted to repair and regenerate damaged muscle tissue in DMD patients (Dell'Era et al., 2018). Anti-inflammatory and anti-fibrotic treatments aim to reduce muscle inflammation and fibrosis, which contribute to muscle degeneration in DMD (Partridge, 2013). Studies on nutritional and exercise interventions are investigating how tailored nutrition and specific exercise regimens can complement medical treatments and improve the quality of life for those with DMD (Duchenne.com, 2024).

Jennifer Wallace emphasizes the importance of staying proactive in physical therapy to benefit from these advancing treatments. "We need to be proactive in Duchenne, to keep people mobile as long as possible, not only to delay disease progression but also because of the drugs in the development pipeline," she explains (Wallace, 2024).

Who is Jennifer Wallace?

Jennifer Wallace is a highly experienced physical therapist who has been working with boys, teens, and adult men living with Duchenne muscular dystrophy since 2002. She founded and operates the Duchenne Therapy Network, a private practice located south of Los Angeles, which specializes in treating individuals with DMD. In addition to her practice, Wallace serves as an outreach trainer with CureDuchenne, a leading organization dedicated to finding a cure for Duchenne muscular dystrophy. Her work focuses on creating personalized therapy plans that help maintain muscle function and enhance the quality of life for those affected by DMD. Wallace’s extensive experience and dedication to the DMD community make her a valuable resource and advocate for patients and their families.

Incorporating physical therapy into the management of Duchenne muscular dystrophy is vital for preserving muscle function and delaying disease progression. With personalized exercise programs, careful use of assistive devices, and the involvement of caregivers, individuals with DMD can maintain their abilities and improve their quality of life. By staying proactive and informed about ongoing research and advancements, those affected by DMD can navigate the challenges of this condition more effectively.

References

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2. Emery, A. E. (1991). Population frequencies of inherited neuromuscular diseases—a world survey. Neuromuscular Disorders, 1(1), 19-29.

3. Mercuri, E., et al. (2014). The role of corticosteroids in the management of Duchenne muscular dystrophy: a review. Paediatric Drugs, 16(4), 273-284.

4. Eagle, M., et al. (2007). Survival in Duchenne muscular dystrophy: improvements in life expectancy since 1967 and the impact of home nocturnal ventilation. Neuromuscular Disorders, 17(6), 471-479.

5. "DMD Exercise and Physical Therapy." Muscular Dystrophy News. https://musculardystrophynews.com/dmd-exercise-and-physical-therapy/

6. Wallace, J. (2024). Interview with Jennifer Wallace. Duchenne Therapy Network.

7. Biggar, W. D., et al. (2004). Long-term benefits of deflazacort treatment for boys with Duchenne muscular dystrophy in their second decade. Neuromuscular Disorders, 14(9-10), 635-640.

8. Shapiro, F., et al. (2004). The management of scoliosis in Duchenne muscular dystrophy: a long term follow-up study. Spine, 20(21), 2460-2471.

9. "CureDuchenne Physical Therapy Education." CureDuchenne. https://cureduchenne.org/physical-therapy/

10. Mendell, J. R., et al. (2020). Gene therapy for Duchenne muscular dystrophy: the path forward. Nature Reviews Neurology, 16(7), 389-397.

11. Aartsma-Rus, A., & van Putten, M. (2020). The use of exon skipping in

Duchenne muscular dystrophy. Cold Spring Harbor Perspectives in Medicine, 10(4), a036490.

12. Dell'Era, P., et al. (2018). Current state of stem cell-based therapies: an overview. Stem Cells International, 2018, 6725015.

13. Partridge, T. A. (2013). Impending therapies for Duchenne muscular dystrophy. Current Opinion in Neurology, 26(5), 534-542.

14. "Nutritional and Exercise Interventions for DMD." Duchenne.com. https://www.duchenne.com/nutrition-and-exercise

15. Wallace, J. (2024). Interview with Jennifer Wallace. Duchenne Therapy Network.

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