Duchenne muscular dystrophy (DMD) is a genetic condition that causes progressive muscle weakness and muscle wasting (loss of muscle bulk). It mainly affects boys, with symptoms commonly becoming noticeable between the ages of 2 and 5. DMD happens due to changes (mutations) in the dystrophin (DMD) gene, which means the body does not make enough functional dystrophin. Dystrophin is a key protein that helps protect muscle fibres during movement. Without it, muscle fibres are more easily damaged, leading to ongoing inflammation, scarring and gradual loss of muscle strength over time.
DMD is an X-linked condition, which is why it is far more common in boys. Many girls and women may be carriers. Most carriers have no symptoms, but some can have muscle symptoms and/or heart involvement, so assessment and monitoring can still matter for the wider family.
While there is currently no cure, outcomes have improved considerably with modern multidisciplinary care. Physiotherapy for Duchenne muscular dystrophy plays a major role from the earliest stages, helping to preserve mobility, delay muscle and joint tightness (contractures), support posture and breathing, and guide safe activity as your child grows. Physiotherapists also help families plan for equipment and supports in a staged way, aiming to keep kids participating in school, sport, play and everyday life for as long as possible.
Key Facts
- Australian epidemiology data suggests a cumulative incidence of around 19.7 per 100,000 male live births diagnosed with Duchenne muscular dystrophy. 🔗
- Symptoms of Duchenne often develop between ages 2 and 5, and the average age of diagnosis is around 4 years. 🔗
- In Australia, survival for people with DMD has improved over the last five decades, consistent with advances in cardiac and respiratory management and broader multidisciplinary care. 🔗
Risk Factors
- Being male, due to X-linked inheritance (girls and women are more commonly carriers)
- Family history of DMD, Becker muscular dystrophy, or known dystrophin gene variants
- A mother known to be a carrier, or a family history of unexplained early muscle weakness in boys
- A previous child affected by DMD, which increases the importance of genetic counselling for future pregnancies
Symptoms
- Delayed motor milestones, such as being late to run, jump, or climb stairs compared with peers
- Frequent falls, tripping, or difficulty keeping up with other children during play
- Difficulty rising from the floor, including using hands on thighs to stand (Gowers’ sign)
- Waddling walking pattern due to hip and thigh weakness
- Enlarged calf appearance (pseudohypertrophy) from replacement of muscle with fat and connective tissue
- Progressive tightness through ankles, knees, and hips, leading to toe-walking or reduced stride length
- Later-stage reduced arm and shoulder strength affecting reaching, lifting, and wheelchair transfers
- Breathlessness, sleep-disordered breathing, or a weaker cough as respiratory muscles become affected
Aggravating Factors
- Prolonged walking or running, especially when your child is already fatigued, which can worsen gait quality and increase falls risk
- Stair climbing, getting up from the floor, and jumping, as these tasks demand strong hip and thigh muscles that are commonly affected early in DMD
- High-impact sport and repeated eccentric loading (for example, downhill running or lots of jumping), which may increase muscle damage in DMD
- Long periods of sitting with poor support, which can contribute to hip flexor tightness, slumped posture, and faster loss of comfortable upright sitting
Causes
Duchenne muscular dystrophy is caused by mutations in the DMD gene on the X chromosome. This gene provides instructions for making dystrophin, a structural protein that helps stabilise muscle fibres during movement. When dystrophin is absent or non-functional, muscle fibres are more vulnerable to damage. Over time, repeated injury leads to inflammation and scarring, and muscle tissue is gradually replaced by fat and connective tissue. This is why muscles can look larger in some areas, especially the calves, even as true muscle strength declines.
DMD is typically inherited in an X-linked pattern. Many boys inherit the gene change from a mother who is a carrier. In a substantial proportion of families, there is no known prior family history, because new (de novo) mutations can occur. DMD is not caused by parenting choices, exercise, diet, infections, or environmental exposures. Because the underlying issue is genetic, management focuses on keeping the child moving safely, preventing predictable complications, and planning ahead for changes over time. Physiotherapists are key in this planning process, helping to match the right Duchenne muscular dystrophy physiotherapy exercises and supports to each stage.
How Is It Diagnosed?
DMD is diagnosed by a specialist medical team, often involving a paediatrician, neurologist and genetic services. Diagnosis usually begins when a child shows typical early signs such as delayed gross motor skills, frequent falls, toe-walking, or difficulty rising from the floor.
Testing commonly includes a blood test for creatine kinase (an enzyme that rises when muscles are damaged), followed by genetic testing to confirm the dystrophin gene change. Genetic confirmation is important because it guides eligibility for certain disease-modifying therapies, informs family planning, and helps the team tailor long-term management.
Physiotherapists are often involved early, even while testing is underway, to document baseline function (how your child walks, climbs stairs, gets up from the floor, balance and endurance) and to start proactive strategies to reduce tightness and falls risk. Early physiotherapy input also helps families feel supported and informed, rather than waiting for problems to become severe.
Investigations & Imaging
- Blood test: Creatine kinase (CK)
- Often very high in DMD and supports the suspicion of muscle disease; helps guide urgent referral for confirmatory testing.
- Genetic testing (dystrophin gene analysis)
- Confirms the diagnosis and identifies the mutation type, which can influence treatment options (for example, eligibility for certain exon-skipping therapies).
- Cardiac investigations (ECG and echocardiogram, sometimes cardiac MRI)
- Assesses for cardiomyopathy and guides early cardiac management; heart involvement can progress even when symptoms are not obvious.
- Pulmonary function testing and sleep studies (as indicated)
- Tracks breathing strength and sleep-disordered breathing; helps time respiratory physiotherapy strategies and ventilation supports.
- Functional physiotherapy assessment (for example, timed tests and stage-appropriate scales)
- Measures mobility, endurance, transfers and upper limb function to guide DMD rehab planning and equipment decisions.
Grading / Classification
- Early ambulatory stage
- Child is walking independently but may have a waddling gait, toe-walking, frequent falls, and difficulty with running, jumping, or stairs. Physiotherapy focuses on stretching, safe strengthening, balance and falls prevention, and family routines that keep movement enjoyable.
- Late ambulatory stage
- Walking becomes slower and more effortful, with increased fatigue and higher falls risk. Contractures may become more noticeable. Physiotherapy commonly increases focus on orthoses, standing programs, energy conservation, and planning for future mobility options.
- Early non-ambulatory stage
- Wheelchair use becomes the main way to get around. Transfers, sitting posture, and upper limb function become key goals. Physiotherapy supports seating, posture, stretching routines, and respiratory care, aiming to keep school and community participation as normal as possible.
- Late non-ambulatory stage
- Increased need for assistance with daily tasks, with greater risk of scoliosis, pressure areas, and respiratory complications. Physiotherapy prioritises comfortable positioning, contracture management, chest physiotherapy, cough support strategies, and carer handling skills.
Physiotherapy Management
Physiotherapy for Duchenne muscular dystrophy is a long-term, staged approach that evolves as your child grows. The goal is not to push weak muscles to exhaustion, but to protect joints, support safe movement, preserve function, and reduce preventable complications such as contractures, falls, pain, scoliosis and breathing decline. Physiotherapists work closely with families and schools to build realistic routines, including home exercise programs, orthoses schedules, and activity modifications that keep kids participating in what matters to them.
DMD rehab typically becomes more equipment-focused over time. That is not a sign of failure. It is a proactive strategy to keep a child comfortable, upright, engaged and independent in the ways that are still possible at each stage.
Exercise
Duchenne muscular dystrophy physiotherapy exercises need to be specific, safe, and matched to the stage of DMD. Your physiotherapist will usually prioritise flexibility and joint protection first, then add targeted strengthening where appropriate.
In the ambulatory years, physiotherapy programs often include daily stretching for calves (Achilles), hamstrings and hip flexors, because these muscles commonly tighten in DMD and can drive toe-walking and reduced stride. Your physio may teach playful stretches for young children, then progress to more structured routines as your child gets older. Gentle strengthening may target trunk and hip muscles to support walking and reduce compensations, but your physio will avoid heavy eccentric loading and will monitor for overwork fatigue.
As walking becomes harder, exercise goals usually shift toward preserving comfort and function rather than chasing fitness milestones. Hydrotherapy, cycling with appropriate setup, and low-impact movement can support general health without excessive joint stress. In non-ambulatory stages, physiotherapy exercises focus on maintaining shoulder, elbow, wrist and hand range, posture control for sitting, and assisted stretching to reduce pain and keep dressing and transfers easier.
Respiratory exercises may also be introduced. This can include chest mobility work, breath-stacking strategies (when appropriate and medically cleared), and techniques to support an effective cough. Respiratory physiotherapy is particularly important in DMD because breathing muscles can weaken gradually and the early signs can be subtle.
Activity Modification
Activity modification in DMD is about keeping your child involved while reducing unnecessary risk and fatigue. A physiotherapist can help you decide which activities are helpful, which need small changes, and which are more likely to cause muscle overload or falls.
In early DMD, this might mean choosing games that include frequent rest breaks, using rails on stairs, modifying how your child gets up from the floor, and planning school day movement so they are not forced to sprint between classes or carry heavy bags. Your physio may suggest strategies such as seated options for tasks that usually require prolonged standing, or using a scooter or wheelchair for long distances to preserve energy for the activities that matter most.
As DMD progresses, activity modification often includes pacing plans, safe transfer strategies, and planning for changes in mobility early, rather than waiting for a crisis. For many families, it is helpful when a physiotherapist explains that using powered mobility can increase independence and participation, not reduce it.
Manual Therapy
Manual therapy in DMD is used to address secondary stiffness and discomfort that can develop as movement changes. Physiotherapists may use gentle joint mobilisation and soft tissue techniques to help maintain comfort in the ankles, knees, hips, shoulders and spine.
Manual therapy is not used to treat the genetic cause of DMD, but it can support easier stretching and more comfortable positioning, particularly when muscles are tight and joints are starting to lose range. For example, gentle ankle and midfoot techniques may help a child tolerate calf stretching and night splints. In teenagers and adults with DMD, manual therapy may focus more on shoulders, neck and thoracic spine to help with wheelchair posture, reaching, and comfort during breathing exercises.
Manual therapy is always paired with an active plan, such as a stretching routine, orthoses wear schedule, or seating changes. That combined approach is what makes DMD physiotherapy effective in day-to-day life.
Postural Retraining
Postural retraining in DMD focuses on maintaining an upright, supported position for function and breathing. As trunk muscles weaken, children may develop a rounded posture, leaning to one side, or difficulty keeping their head and shoulders comfortably aligned for schoolwork and social interaction.
Your physiotherapist can assess sitting posture early and recommend strategies such as supported sitting, pelvic positioning, and ergonomic adjustments at school. As wheelchair use increases, posture becomes closely linked to comfort, pressure area prevention, upper limb function, and breathing efficiency. A physiotherapist will often work with occupational therapy and orthotics to optimise seating, back support, lateral supports, headrests and tray setup.
Posture also matters during night time. In DMD, positions that encourage hip and knee flexion for long periods can contribute to tighter hip flexors and hamstrings. Physiotherapy input helps families choose bedding and positioning strategies that protect range while keeping sleep comfortable.
Bracing & Taping
Bracing and taping are commonly used in DMD to slow the development of contractures and support safer movement. The most common supports include ankle-foot orthoses (AFOs), often worn at night, to help maintain calf and ankle range and reduce toe-walking progression.
In ambulatory stages, daytime orthoses may be considered for stability and alignment, but decisions are individual. The aim is to support function without unnecessarily restricting movement. Your physiotherapist will monitor walking pattern, fatigue and falls risk to decide when bracing is helpful and when it may make movement harder.
As DMD progresses, bracing may also be used to support wrists or hands for comfort and function, especially for tasks like using a device, writing, or wheelchair controls. Taping is not a primary treatment for DMD, but a physiotherapist may use it selectively for comfort, proprioceptive input, or mild joint support during specific activities.
Heat & Ice
Heat and ice can be used in DMD to manage secondary discomfort, particularly when tight muscles and limited joint range cause aches after a busy day. Heat may help muscles relax before stretching routines, which can be useful for calves, hamstrings and hip flexors. Ice may help settle localised soreness when joints are irritated by altered walking mechanics or prolonged sitting.
These strategies do not change the underlying muscle disease, so they are best used as part of a broader DMD physiotherapy plan that includes stretching, posture management and appropriate supports.
Tens
TENS may be considered in DMD when a child or teenager develops secondary pain, for example back discomfort from prolonged wheelchair sitting, or musculoskeletal pain related to contractures and posture. DMD pain is not always present in early childhood, but discomfort can increase with tightness, scoliosis, and reduced movement options.
A physiotherapist will decide if TENS is appropriate based on age, skin tolerance, sensation, and the type of pain. TENS is used as a symptom-management tool alongside core DMD rehab strategies such as stretching, seating optimisation and gentle movement.
Education
Education is one of the most valuable parts of DMD physiotherapy. Families often benefit from clear guidance on what is safe, what is helpful, and what is likely to cause unnecessary fatigue or falls. Your physiotherapist can explain why daily stretching matters in DMD, how to make routines achievable at home, and how to recognise early signs that supports need to change.
Education also includes school and community planning. This may involve advice on safe participation in PE, managing excursions, setting up classroom seating, and communicating with teachers about fatigue and falls risk. As the child grows, education expands to include transfer skills, hoist training (if required), pressure care, and respiratory awareness.
Importantly, physiotherapy education is not a one-off appointment. DMD changes over time, so education is revisited regularly to keep the plan aligned with what your child can do now, not what they could do a year ago.
Other
Other key components of DMD physiotherapy management include:
- Respiratory physiotherapy:
Physiotherapists can teach strategies to maintain chest mobility, optimise breathing mechanics in sitting, and support airway clearance as cough strength changes. They also collaborate with respiratory teams regarding equipment such as cough assist devices and ventilation supports. - Equipment and mobility planning:
Physiotherapists help time the introduction of standing frames, wheelchairs, powered mobility, transfer aids, and home modifications. Early planning can reduce injury risk and preserve independence. - Falls prevention:
This includes balance training, safer movement strategies, home and school hazard reduction, and guidance on when to transition from walking long distances to supported mobility to reduce the risk of serious falls. - Hydrotherapy and graded activity:
Water-based therapy can support movement with less gravitational load, which can be helpful for maintaining participation and confidence, especially when land-based walking becomes tiring.
Other Treatments
Other DMD treatments are delivered alongside physiotherapy as part of multidisciplinary care. Medications such as corticosteroids are commonly used to slow functional decline and prolong mobility, with careful monitoring for side effects. Cardiac medications may be prescribed to protect heart function. Respiratory supports, including airway clearance strategies and non-invasive ventilation, are often introduced as needed to maintain sleep quality, reduce infections, and support long-term health.
Some individuals may be eligible for disease-modifying therapies depending on their genetic mutation type, such as exon-skipping therapies. Research into gene therapy and newer approaches continues to evolve. Even when newer treatments are used, physiotherapy remains essential because muscle tightness, posture changes, deconditioning, and equipment needs still require ongoing DMD rehab planning.
Surgery
Surgery does not treat the genetic cause of DMD, but orthopaedic surgery may be recommended to manage complications that affect comfort, function, and respiratory health. Common examples include surgery for severe contractures (such as tendon lengthening) when tightness significantly limits positioning, standing, or hygiene, and spinal surgery for scoliosis when curvature affects sitting posture and lung function.
Physiotherapy is important before and after surgery. Before surgery, physiotherapists help optimise respiratory function, strengthen where possible, and plan equipment and transfer strategies. After surgery, physiotherapy supports safe mobility, protects the surgical area, rebuilds tolerance to sitting and standing (if applicable), and returns the child or young person to school and daily routines in a staged way.
Prognosis & Return to Activity
DMD is progressive, but the speed of change varies between individuals and is strongly influenced by access to multidisciplinary care. Many children remain ambulatory through primary school, with increasing difficulty running, jumping, and climbing stairs. Most individuals require a wheelchair for full-time mobility during adolescence. Later, upper limb strength can decline, and respiratory and cardiac complications become more prominent.
Return to activity in DMD is best thought of as staying involved in meaningful activity rather than aiming for traditional sport performance goals. Physiotherapists help families choose and adapt activities so the child can participate with confidence. This might include modified sport, swimming, cycling with supports, school participation plans, and powered mobility to stay socially engaged.
Physiotherapists also help families anticipate transitions, such as moving from independent walking to supported mobility, or introducing respiratory supports. These proactive changes can maintain quality of life and reduce hospital admissions caused by falls, infections, or severe contractures.
Complications
- Progressive contractures (tightening) at the ankles, knees, and hips, which can lead to toe-walking, pain, and difficulty with sitting or standing
- Scoliosis and postural asymmetry, especially after loss of independent walking, which can affect sitting comfort and breathing
- Respiratory complications, including weaker cough, chest infections, and sleep-disordered breathing as respiratory muscles weaken
- Cardiac involvement (cardiomyopathy), which may be present even before obvious symptoms
- Reduced bone density and increased fracture risk, particularly with reduced weight-bearing and long-term steroid use
Preventing Recurrence
- Commit to a daily DMD stretching routine (calves, hamstrings, hip flexors) to reduce contracture progression and protect walking and comfort
- Use prescribed night splints or orthoses as directed to maintain ankle range and reduce toe-walking-related tightness over time
- Introduce standing programs early (when appropriate) to support hip and knee range, bone health, and upright tolerance as walking becomes harder
- Review wheelchair seating and posture regularly to reduce scoliosis progression risk, minimise pressure areas, and support easier breathing
- Maintain safe, low-impact physical activity with pacing (for example hydrotherapy or supported cycling) to reduce deconditioning while avoiding overwork fatigue
When to See a Physio
- As soon as DMD is suspected or diagnosed, to start proactive stretching, baseline assessment, and falls prevention strategies
- If your child is falling more often, toe-walking is increasing, or stairs and rising from the floor are becoming noticeably harder
- When pain, tightness, or reduced joint range starts affecting sleep, footwear, walking distance, or participation at school
- If sitting posture is worsening in the wheelchair, transfers are becoming unsafe, or pressure areas are developing
- If coughing is weaker, colds are lingering, morning headaches appear, or breathlessness during sleep is suspected, as respiratory physiotherapy planning may be needed