# Symptoms and stages of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a progressive condition, which means the muscles gradually weaken. The progression differs from person to person, but there are some recognized stages that many boys go through. Below we describe these stages, the complaints associated with them, and what is known about their duration and prognosis.
---
Early stage (approximately 0–5 years)
In the very earliest years — sometimes from birth, but often only noticeably from the second or third year of life — first signs begin to manifest.
**Symptoms that occur:**
- Delayed motor development: the child begins to sit, stand or walk later than peers.
- Difficulty climbing, climbing stairs or jumping; the legs feel 'floppy' and weak.
- Falls, stumbling and difficulty with balance.
- Enlarged calves (pseudohypertrophy): the calf muscles look thick, but consist of fat and connective tissue instead of strong muscle cells.
- Delay in physical development; sometimes remaining small in growth.
- Possible delayed speech development.
- Elevated creatine phosphokinase (CK) concentrations in the blood — a marker indicating muscle cell breakdown.
**What this means in daily life:**
The child may have difficulty playing like peers, tires more easily and may fall. Parents notice that everyday movements — going up the stairs, standing up from the ground — require more effort than normal. At school, extra support may be needed.
**Information about this stage:**
In this stage, many parents notice for the first time that something is wrong, although this varies greatly from person to person. Some receive a diagnosis through newborn screening, others because milestones are missed. The stage can last several years, but the pace of deterioration is highly individual. Recent research (2026) suggests that early detection of dystrophin abnormalities and prompt initiation of treatment may be essential, as early intervention may provide more benefit than when the disease has progressed further.
---
Ambulatory stage (approximately 5–12 years)
In this stage, the child can still walk independently, but the weakness becomes increasingly apparent.
**Symptoms that occur:**
- Clearly reduced muscle strength in legs and thighs; difficulty running, jumping and playing around.
- Increasing weakness in the trunk (back and abdomen); the child increasingly stoops or bends.
- Characteristic 'Gowers manoeuvre': the child must use his hands to stand up from the ground (placing hands on knees, then working up along the legs).
- Gait abnormality: the gait becomes wider and more waddling; the child increasingly walks on his toes.
- Falls increase; the child falls more easily and gets injured more often.
- Contractures (shortening of muscles and tendons): especially in the knees, ankles and hips; movement becomes more limited.
- Worsening of walking ability: can walk increasingly shorter distances without rest.
- Problems climbing stairs; must hold on or get help from others.
- Scoliosis (sideways curvature of the spine) begins to become apparent.
- Heart problems may develop (cardiomyopathy), although without symptoms in this stage: the heart is weaker and pumps less efficiently.
- Breathing and swallowing problems may occur, but are usually still mild.
- Growth retardation persists.
**What this means in daily life:**
The child becomes increasingly limited in what he can do. Sports and physical games become difficult or impossible. Schools may need to make adjustments: lifts instead of stairs, adapted PE lessons, extra help. Fatigue is a major problem; the child needs a lot of rest. Socially, it can be difficult not to be able to do what friends do. Psychological support can be important. Treatments (corticosteroids, and possibly new therapies) are used to delay the deterioration as long as possible.
**Information about this stage:**
This is usually the longest phase. Recent studies (2026) show that medicines such as vamorolone (a newer type of steroid with potentially fewer side effects than classical corticosteroids) can slow progression. There are also new genetic therapies under investigation (exon-skipping, gene therapy), which can be started in this phase when the disease is not yet too advanced. The median duration of this phase is difficult to express in a single number because it depends heavily on the type of mutation, the effectiveness of medicines and individual factors. In general, a boy without intensive treatment manages this for a few years, but with adequate care it can be longer.
---
Early transitional phase (approximately 10–14 years)
This is a critical period: walking ability begins to decline permanently.
**Symptoms that occur:**
- Walking ability decreases noticeably; short distances become difficult.
- Frequent falls; the risk of serious injuries grows.
- Clear contractures in legs and trunk muscles; standing becomes difficult.
- Scoliosis worsens; the spinal curvature can cause pain and affect breathing.
- Weakness in upper body and arms becomes noticeable; lifting and carrying becomes harder.
- Heart problems (cardiomyopathy) can cause symptoms: shortness of breath on exertion, fatigue. Regular heart checks (echo, ECG) become increasingly important.
- Swallowing and chewing problems may occur; risk of pneumonia and aspiration.
- Breathing weakness: problems can occur especially at night; nighttime breathing support (non-invasive ventilation, NIV) may be needed.
- Fatigue and insomnia, possibly due to breathing problems.
- Possible bowel problems: constipation is very common.
- Concentration problems and mood disorders may occur (related to brain involvement).
**What this means in daily life:**
This is an emotionally difficult period. The reality that independent walking is no longer possible becomes clear. Adapted mobility solutions (walker, scooter, wheelchair) are considered. School, friendships and identity change fundamentally. Many young people experience fear, sadness and anger. Regular visits to specialists (paediatric rheumatology or neuromuscular specialist, cardiology, lung function) become routine. Nighttime breathing support can disrupt sleep patterns. Families must adapt to new care needs.
**Information about this stage:**
This is a turning point where prevention of complications (contractures, posture, heart problems, lung problems) is central. Recent publications (2026) emphasise the importance of true standardisation of heart examinations (echocardiography) and early detection of heart problems. The role of sleep support is also becoming better understood; studies show that good nighttime ventilation can significantly improve lung function and quality of life. The duration of this phase is highly individual; some never completely lose walking ability, others become completely wheelchair dependent within a few years.
---
Late transitional phase (approximately 12–18 years)
By the end of this phase, independent walking is no longer possible.
**Symptoms that occur:**
- Walking ability completely gone; completely dependent on wheelchair.
- Severe contractures in all major joints; movement severely limited.
- Severe scoliosis; sometimes surgical stabilisation is needed.
- Clear muscle atrophy (wasting) in legs; only fat and connective tissue remain.
- Weakness in upper body worsens; arm and shoulder muscles weaken.
- Heart problems worsen; many young people now have clear cardiomyopathy.
- Lung function drops significantly; breathing support generally becomes necessary during the day, not just at night.
- Swallowing and chewing problems worse; aspiration risk considerable.
- Spasticity may increase (involuntary muscle cramps).
- Joint stiffness and possible pain.
- Possible bowel problems, toilet use becomes problematic.
- Skin problems due to immobility and pressure (pressure sores).
- Psychological symptoms: depression, anxiety, loss of independence feel heavy.
**What this means in daily life:**
Life changes completely. The young man is now completely wheelchair-dependent and needs help with virtually everything: mobility, personal hygiene, clothing, nutrition. Attention to pressure sores and proper sitting posture is essential to prevent further problems. Regular visits to multiple specialists are normal. Living at home requires considerable adaptations: lifts, adapted bathroom, adapted kitchen. Many young people attend schools with adapted education or receive home education. Friendships change greatly; many feel isolated. Thoughts about the future, work and love are difficult. Professional psychological and social support is crucial.
**Information about this stage:**
Here the quality of multidisciplinary care becomes strongly determining for how someone feels. Recent research (2026) shows that certain medications — such as SGLT2 inhibitors (originally for diabetes) — can offer benefit for the heart in this phase. There is also increasing insight into the importance of psychosocial care; many young people go through this phase without adequate psychological or social support, while that has considerable effect on quality of life. Median survival for boys without intensive multidisciplinary care historically lay around early to mid 20th century; with modern care (cardiac monitoring, lung support, infection prevention, nutritional support) this has shifted to late 20th or early 30s. These figures, however, are highly dependent on mutation type, severity of cardiac involvement and quality of care — individual differences are large.
---
Late phase (adulthood, 18+ years)
Not all boys survive to adulthood; those who do survive reach adulthood, often with severe limitations.
**Symptoms that occur:**
- Complete immobility; no independent movement possible.
- Severe contractures; body is in fixed posture.
- Severe scoliosis, possibly already surgically corrected earlier.
- Advanced cardiomyopathy: heart failure is usually the determining factor. Symptoms are shortness of breath, fatigue, heart rhythm disorders.
- Severe lung function decline; permanently dependent on breathing support (ventilator).
- Difficulties with eating and swallowing; sometimes nutrition must be given via a feeding tube (gastrostomy or nasogastric tube).
- Frequent infections (pneumonia, urinary tract infections).
- Possible kidney function problems (due to muscle breakdown and certain medications).
- Skin integrity severely threatened; pressure sores, infections.
- Pain can be considerable.
- Cognitive problems can occur (DMD can affect the brain).
- Depression, anxiety, feelings of hopelessness; psychiatric support is crucial.