Symptoms of Duchenne
The major symptoms are:
Weakness and fatigue – due to the additional effort needed when climbing stairs, running or even standing, they will often grow weak from these routine tasks. By the early teens a wheelchair is required full time.
Tightening of joints and tendons - this is called contracture. It typically affects the ankles first, followed by the hips and knees, and finally, the joints of the upper limbs. Physiotherapy and orthotics are used to help slow the progression of contractures.
Scoliosis - curvature of the spine. If severe, scoliosis can be disfiguring and eventually limit the function of the lungs and upper limbs. Young men who have Duchenne often require surgery to help straighten their spines. In this major operation, doctors insert a metal rod to keep the spine straight.
Speech, behavioural, and cognitive deficits - About one third of young men with Duchenne have some degree of a learning disability which is caused by lack of dystrophin in the brain. There is also a higher chance of autism and ADHD in boys with Duchenne. Unlike progressive muscle weakness, when a learning disability does occur in a boy with Duchenne, it does not worsen as time goes on.
Breathing problems - as boys with Duchenne grow into teenagers, respiratory muscle function may begin to decline enough to change the way lungs pull air in and push it out. As Duchenne progresses, the diaphragm becomes weakened and breathing becomes more difficult. At the same time, muscles responsible for coughing are also growing weaker and are not able to support the diaphragm. This may allow a simple cold to quickly progress into pneumonia in young men with Duchenne. The use of a ventilator and cough assist machine are eventually needed.
Heart problems - during the teen years, heart problems will often develop as the muscle layer of the heart begins to deteriorate. This puts the young men at risk of a heart attack, but treatment with heart medication is used to manage this.