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Duchenne Muscular Dystrophy
What are the symptoms?
The hallmark of the disease is the progressive weakness of all muscles; proximal muscles of the limbs are most severely affected. Children usually present with mild delay of the motor milestones such as walking and with tip-toe and unsteady gait. Difficulties rising from the floor, going upstairs and running are usually evident in the first two to three years of life. Enlarged calves can be seen in most children especially in the early phases of the disease.
A frequently associated feature (thirty per cent of cases) is mild learning disability. The presentation with predominantly cognitive problems is not uncommon (speech delay, for example). This is not progressive.
The weakness, however, is progressive and children with DMD will lose ambulation by the age of thirteen years; the mean age being approximately nine years. This is due to a combination of weakness and contractures affecting the ankles, knees and hips.
Affected children confined to a wheelchair are at high risk of developing spinal curvature; more than ninety per cent will eventually develop a significant scoliosis. Appropriate management (bracing) reduces the rate but very often spinal surgery is required to stop the progression of the scoliosis.
Respiratory muscles are also affected and this becomes a clinical problem usually in the late teens; respiratory failure causing night time hypoventilation is common at this age and is often followed by death after a few months if not treated. However with appropriate management using night time ventilatory support (facial or nasal mask ventilation) this complication can be helped considerably and this has resulted in a significant improvement of the mean age of survival of DMD individuals. While thirty years ago the mean age at death was fourteen and a half years, it is now twenty-five to thirty years. Cardiac muscle is also affected; however, because of the immobility, patients with DMD rarely develop signs of cardiac failure.
Background
| Psychological and behavioural characteristics 
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