Muscle loss in Duchenne first starts to be noticed in childhood, with loss of strength, function, and flexibility in the hips, thighs, shoulders, and pelvis. In the teens, these losses begin progressing to the arms, lower legs, and trunk. Because there is also an absence of dystrophin in the muscles of the heart and lungs, heart function and breathing are also affected. In addition, some people can have issues with learning and behavior, resulting from a lack of dystrophin in the brain.
How can progression vary?
Duchenne progresses differently for every person, thus every person living with Duchenne will display their own symptoms despite their genetic mutation. Even siblings with the same mutation may have a very different progression of symptoms. The progression of symptoms through this disease are on a spectrum, from late onset/very mild symptoms to early onset/severe symptoms.
Regular visits with your neuromuscular team will help you to monitor the progression of this disease, and how it can best be treated along the way. If possible, you should be seen at least annually at a Certified Duchenne Care Center.
What are the 5 general stages in Duchenne?
- Diagnosis (infancy/childhood)
- Early ambulatory (childhood)
- Late ambulatory (late childhood/adolescent/young adult)
- Early non-ambulatory (adolescent/young adult)
- Late non-ambulatory (adult)
Young children with Duchenne may be behind in achieving their developmental milestones (for example, walking, crawling, talking) but will usually, eventually catch up to them. Some children are only late on some milestones (i.e., speech) and some are not late at all. This confusion may lead to a diagnosis later in childhood.
Children at this stage often have large calves and will use the Gower’s Maneuver (needing help getting up from the floor, or walking their hands up their legs in order to stand) to rise from the floor to standing. A creatine kinase level (CK, sometimes called a CPK level) is often extremely elevated and liver enzymes (AST, ALT) are elevated. Both of these are an indication that DNA testing for Duchenne is necessary and appropriate. Learn more about how Duchenne is diagnosed.
Children at this stage will have very few symptoms of Duchenne. Parents may notice that they have difficulty climbing stairs, running and keeping up with their peers, or they may notice no deficits at all. Children may tire easily than their peers and may complain of achy leg muscles. It is important to follow the recommendations of your neuromuscular specialist, as well as your physical therapist, to allow your child to be as safely active, and as comfortable, as possible. If steroids are started, regular appointments with nutrition will be important to keep everyone’s diet healthy, balance and high in calcium and vitamin D. Establishing relationships with the other members of your neuromuscular care team is important at this stage. Learn more about care at this stage.
Late childhood/adolescent/young adult
At this stage, there is often fatigue with walking long distances and difficulty keeping up with peers. A carriage/scooter/manual wheelchair may be needed to help decrease this fatigue. Teens should start to manage their own care, nurture their interests, and consider future careers. Monitoring breathing, heart, bone health and puberty become increasingly important. Learn more about care at this stage.
Teens living with Duchenne will need to navigate all of the hurdles of normal adolescence, as well as the challenges of Duchenne. During adolescence, teens will need to start to become more independent and begin making decisions around their future adult lives. This will include starting to take responsibility for their own medical care and decision making, knowing what medications they are taking and why, and starting to examine which life path is most appropriate for them then finding ways to follow this path. Comprehensive care, especially cardiac and endocrine, continue to be important. Learn more about care at this stage.
It is important that adults at this stage receive the care and services they need to stay as healthy, independent, and active as they want to be. It is also important to be engaged in a job or career, maintain an active social life, and stay engaged with the community. Continued monitoring of heart function, breathing, bone health, puberty, digestive, and urinary systems, as well as continued stretching and maintaining good body alignment and positioning, should continue. Learn more about care at this stage.