Duchenne muscular dystrophy (DMD) is a progressive, genetic (X-linked recessive) neuromuscular disorder caused by mutations to the DMD gene, resulting in the dysfunction or absence of the dystrophin protein. When functional, dystrophin helps keep muscle cells intact, and without dystrophin, muscle cells are vulnerable to injury, resulting in progressive muscle degeneration and weakness.
DMD is one of four conditions known as “dystrophinopathies”. The other three diseases that belong to this group are Becker muscular dystrophy (BMD, a milder condition than DMD); an intermediate clinical presentation between DMD and BMD; and DMD-associated dilated cardiomyopathy (heart disease) with little or no clinical skeletal or voluntary muscle disease.
DMD follows an X-linked recessive inheritance pattern and is typically passed on by the mother, who is referred to as a “carrier”. The X chromosome is associated with a protein, dystrophin, which plays a vital role in protecting muscle cells and maintaining their strength. When the DMD gene does not function properly, the body cannot produce enough dystrophin, leaving muscle cells more vulnerable to damage.
Over time, these damaged cells are gradually replaced with fat or connective tissue, leading to progressive muscle weakness. Since this initial discovery, thousands of different mutations in the DMD gene have been identified. Today, advances in molecular diagnostics allow for precise identification of these mutations, which is essential for developing and accessing mutation-specific treatments.
Symptoms usually emerge in early childhood, most commonly between the ages of two and three. The condition primarily affects males, although some females may experience symptoms as carriers and, in rare cases, can be more significantly affected. DMD occurs in approximately one in every 3,500 to 5,000 male births.
DMD occurs in approximately one in every 3,500 to 5,000 male births.
The main symptom of DMD is progressive muscle weakness. This weakness typically begins in the muscles closest to the body’s core — such as the shoulders, upper arms, hips, and thighs — with the lower body often affected first.
As the condition progresses, the muscles responsible for breathing and heart function can also become weaker, leading to more serious health complications. By adolescence, many children require mobility aids, including wheelchairs. Encouragingly, advances in medical care have significantly improved both life expectancy and quality of life, with many individuals living longer and more active lives than in previous generations.
Becker muscular dystrophy (BMD) is a related condition that shares many features with DMD but generally begins later, often during adolescence or early adulthood. Its progression is typically slower and more variable.
Multidisciplinary care is the current standard for Duchenne Muscular Dystrophy, bringing together a team of healthcare professionals to address the wide range of symptoms associated with the condition. It is important that families work closely with their child’s paediatrician and medical team regarding any medical or medication management. Treatment approaches for DMD focus on slowing disease progression through proactive, preventative strategies, alongside targeted interventions to manage both the primary effects of muscle weakness and any secondary complications that may arise.
Understanding the condition and having access to appropriate emotional and practical support can make a significant difference in a child’s life. From the time of diagnosis, genetic counselling and psychosocial support are essential for both the child and their family. Families play a central role in helping their child live as fully and happily as possible — encouraging independence, supporting participation in meaningful activities, and adapting to changing physical needs over time.
Having access to appropriate emotional and practical support can make a significant difference in a child’s life.
Physical therapy plays a vital role in DMD management. Intervention is specific and targeted depending on a child’s age, functional abilities, and the level of progression. Physical therapists work closely with families, providing education, practical guidance, and hands-on strategies to support the child’s physical function and wellbeing. Equipping parents with knowledge and skills empowers them to confidently support their child at home.
Physical therapy typically aims to identify and address key areas that may impact a child’s function and participation. The overarching goals of physical therapy are to maintain independence, support participation and play, prevent secondary complications such as contractures or deformities, manage discomfort, and help families adapt as the condition progresses. This can include focusing on areas such as:
Beyond managing physical impairments, one of the most important roles of the physical therapist is to provide ongoing education, reassurance, and support to the family.
Occupational therapy is another vital support for a child with DMD. Occupational therapists (OTs) aim to help individuals participate in activities that are meaningful and purposeful to everyday life. There are many reasons a child with DMD may benefit from occupational therapy.
OTs focus on supporting independence, participation, and access across home, school, and community environments. This may include:
Ultimately, occupational therapy aims to help children remain engaged in meaningful activities and to support families in navigating changing needs over time.
If your child has Duchenne muscular dystrophy or you are beginning to explore therapy support after a recent diagnosis, our team at NAPA is here to help. Schedule a Free Discovery Session to connect with our team by phone or in person. We will learn about your child, answer your questions, and work with you to create a plan that supports their unique strengths and goals.
