Most families come to Duchenne care through neurology, physiotherapy and cardiology. Respiratory review can feel like something for later. In practice, the boys who do best are the ones whose breathing has been measured regularly from early childhood, so that we know their baseline and can see the change coming. Sleep and breathing in Duchenne is also one of my research areas, and it is a subject I care about a great deal.
How Duchenne affects breathing over time
While boys are walking, their lung function usually grows normally or close to it. After walking stops, the breathing muscles gradually weaken, and lung function starts to fall year by year. The rate varies between boys, and steroids and newer treatments can change it, but the direction is similar.
The changes tend to appear in a familiar order:
- Weaker cough. Chest infections take longer to clear.
- Breathing problems during sleep. First obstructive events or low oxygen in dream sleep, then under-breathing with a rise in carbon dioxide.
- Night-time hypoventilation becoming established, which is when overnight NIV is needed.
- Daytime breathing difficulty in later stages, when support may be needed during waking hours too.
Scoliosis, weight gain from steroids and heart involvement can all make breathing harder, so respiratory care has to be joined up with the rest of the team.
Symptoms parents should mention
Early hypoventilation is easy to miss because boys adapt to it. Please tell your team about:
- Morning headaches, or feeling sick in the morning
- Waking frequently, nightmares, or wanting to sleep propped up
- Daytime sleepiness, poor concentration or falling grades at school
- Loss of appetite or weight loss
- Chest infections that linger or keep coming back
Tests you can expect
- Spirometry. Forced vital capacity (FVC) is the key number. It is usually started around age five or six and checked at least yearly while walking, then more often once walking stops.
- Cough strength. Peak cough flow and respiratory muscle pressures show whether the cough is strong enough to clear an infection.
- Sleep studies. These are recommended when symptoms suggest a problem, when FVC falls, and routinely in boys who are no longer walking. They show whether breathing is adequate during sleep and whether NIV is needed.
- Oxygen and carbon dioxide measurement while awake in boys with lower lung function.
International care considerations use lung function and cough measurements to decide when to start cough assistance, when to perform sleep studies and when to begin ventilation. Having a series of results over time is far more useful than a single test during an illness.
Cough assist and airway clearance
Once cough strength falls below a useful level, a mechanical insufflation–exsufflation device, often called a cough assist, becomes part of daily life, particularly during colds. Families are taught manual techniques as well. Having this in place before the first serious chest infection makes a real difference.
Non-invasive ventilation
Overnight NIV through a nasal or full-face mask is started when a sleep study shows under-breathing, or earlier if symptoms and lung function point that way. Most boys find they sleep better and wake with more energy within a few weeks. With good support, NIV can later be extended into daytime use with a mouthpiece or mask if needed, and invasive ventilation through a tracheostomy is a choice some families make in later stages after careful discussion.
More detail on the practical side is in home NIV for children.
Before any surgery or anaesthetic
Boys with Duchenne need a respiratory assessment before planned anaesthesia, including spinal surgery. Lower lung function increases risk, and a plan to use NIV and cough assist after the operation should be agreed in advance.
Newer treatments
Treatment options in Duchenne are developing quickly, including exon-skipping therapies, newer anti-inflammatory medicines and gene therapy. Whatever treatment a boy receives, regular respiratory surveillance remains part of standard care, and the results help show how he is responding over time.
Clinical references
- Birnkrant DJ, Bushby K, Bann CM, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: respiratory, cardiac, bone health, and orthopaedic management. Lancet Neurol 2018;17:347–361. View source →
- Hull J, Aniapravan R, Chan E, et al. British Thoracic Society guideline for respiratory management of children with neuromuscular weakness. Thorax 2012;67 Suppl 1:i1–40. View source →
Frequently asked questions
When should a boy with Duchenne start seeing a pediatric pulmonologist?
What are the signs of breathing problems during sleep in Duchenne?
When is NIV started in Duchenne muscular dystrophy?
Is a respiratory assessment needed before scoliosis surgery?
