Duchenne muscular dystrophy: symptoms and care

Muscular dystrophy is a group of genetic conditions that cause muscle weakness that worsens with time. The NHS says there are many types. They differ in symptoms, severity, the age they start and how fast they progress. Duchenne is the best known and one of the most severe.

In Duchenne, the muscle cells lack a protein called dystrophin. NHS GeNotes explains that dystrophin helps stabilise the muscle cell membrane. Without it, muscle fibres are lost and muscle is gradually replaced, often with fat and scar-like tissue. Calf muscles can look large for this reason, which is called pseudohypertrophy.

Becker muscular dystrophy is a related, milder condition. It is caused by gene changes that leave a shortened but partly working dystrophin protein.

The NHS says the main symptom of muscular dystrophy is muscle weakness that gets worse with age. In young children it can show as floppiness and taking longer than expected to crawl or walk. Other signs include difficulty walking or lifting, falling easily, muscle pain and tight joints.

GeNotes lists the common presenting features of Duchenne as delayed motor milestones, toe-walking, frequent falls and a positive Gower sign. That is when a child uses their hands to push up their own legs to stand from the floor. It also notes that walking later than 18 months is a clue.

See a GP if you are worried about your child's development or movement. The NHS gives this advice for anyone with symptoms of muscular dystrophy.

• Difficulty running, jumping or climbing stairs compared with other children

• Walking on tiptoe or with a waddling gait

• Frequent tripping or falling

• Enlarged-looking calves

• Learning, attention or social communication difficulties in some boys: GeNotes says non-progressive intellectual disability occurs in around 30%

Duchenne is caused by variants in the DMD gene. Because the gene is on the X chromosome and the condition is recessive, it nearly always affects boys. GeNotes says most DMD gene changes are large deletions of one or more exons, with smaller numbers caused by duplications or other variants.

Roughly a third of cases occur for the first time in the child, and about two thirds are inherited from the mother, according to GeNotes. Carrier mothers usually have no symptoms, but around 20% of female carriers develop heart abnormalities, so carriers may be offered heart checks.

A son of a carrier has a 1 in 2 chance of being affected, and a daughter has a 1 in 2 chance of being a carrier. GeNotes adds that even when a mother tests negative, there is still a small chance of a future son being affected because of germline mosaicism.

Families can be referred to clinical genetics. The NHS says tests are available before, during and after pregnancy, and a genetic counsellor can explain the options.

A GP who suspects muscular dystrophy will usually refer to a specialist. The NHS says more than one test may be needed. Options include a blood test, genetic testing, electromyography (EMG), a muscle biopsy and an MRI scan of the muscles.

For Duchenne, GeNotes says serum creatine kinase is typically very high. Creatine kinase is an enzyme that leaks from damaged muscle. Diagnosis is confirmed by finding a pathogenic variant in the DMD gene. If the genetic result is negative but suspicion remains high, a muscle biopsy stained for dystrophin may be used.

There is currently no cure. The NHS says treatment helps manage symptoms and that you are normally supported by a team of specialists. Its list includes physiotherapy, medicines to slow progression such as steroids, treatment for heart problems, surgery for scoliosis and tight joints, and breathing support when the lungs are affected.

GeNotes says care is often led by a paediatric neurologist, with respiratory, cardiac, orthopaedic and endocrine teams plus intensive physiotherapy, occupational therapy and psychosocial support. Corticosteroids are described as a key component.

Newer medicines exist. NICE has published technology appraisal guidance on vamorolone (TA1031, January 2025) and on givinostat (TA1157, May 2026). Availability and eligibility depend on age and individual circumstances, so ask the neuromuscular team what applies.

• Physiotherapy and occupational therapy to preserve movement and help with daily tasks

• Mobility equipment such as frames and wheelchairs, and home adaptations

• Heart care, which can include ACE inhibitors, beta blockers or a pacemaker

• Breathing support with a machine when the lungs are affected

• Surgery for scoliosis and tight joints

• Support at home, at school and at work

GeNotes states that most boys lose the ability to walk towards the end of childhood. The mean age is nine years in those not receiving treatment. In older, non-walking patients scoliosis may need surgery and feeding may need support.

Life expectancy is reduced, typically because of heart and breathing complications. The NHS says the effect on life expectancy depends on symptoms and that the care team can give more detail. Conversations about outlook are best held with the specialist team who know the individual.

The NHS notes that many people will need mobility equipment as weakness progresses. The NHS names Muscular Dystrophy UK and Duchenne UK as charities offering help and support, and says your care team passes information to the National Congenital Anomaly and Rare Disease Registration Service, from which you can opt out at any time.

See a GP if your child shows symptoms of muscular dystrophy or you are worried about development. The NHS also advises seeing a GP if you are pregnant or planning a pregnancy and someone in your or your partner's family has muscular dystrophy.

For someone already diagnosed, new breathlessness, chest pain, a very fast or irregular heartbeat, a chest infection or sudden loss of function should be treated as urgent. Contact the specialist team or NHS 111 for advice and call 999 in an emergency. Make sure emergency staff know about the diagnosis and any steroid treatment.

In the NHS the usual route is GP, then a paediatric specialist and a neuromuscular team, with genetics input for testing and family planning. Ongoing care brings together neurology, cardiology, respiratory, orthopaedic and therapy services.

A private paediatric neurology opinion may help with a faster initial assessment or a second view on a diagnosis. Long-term monitoring and access to newer medicines are usually coordinated through NHS specialist services, so private and NHS teams need to share information.