Duchenne’s dystrophy remains an incurable disease. Its symptoms can be treated and the progression retarded, but it cannot be reversed. Prednisone is the only medication that produces any benefits that modify the progression of the disease. The muscle wasting that is so debilitating can be retarded by administration of prednisone at 0.05 to 0.75 mg/kg/day in divided doses on alternating days. Benefits from treatment with prednisone may become clinically evident within a month of initiation of the treatment. The observed benefit may last as long as 3 years.

The remainder of the medical management of Duchenne’s dystrophy is geared toward managing symptoms and delaying the inevitable for as long as possible. Daily exercises of joints and muscle stretching delay the onset of contractures. The stretching exercises are combined with judicious application of braces, such as foot/ankle or knee/ankle/foot orthoses, to work synergistically to help the patient maintain the ability to stand, whether mobile or not, and delay the onset of contractures and scoliosis. The onset of wheelchair dependency initiates the development of greater debilities, such as contractures, scoliosis, and degradation of muscle strength. These debilities contribute to pulmonary function impairment and gastrointestinal dysmotility.

Confinement to a wheelchair hastens, somewhat, the development of Duchenne’s dystrophy. Onset of the sedentary life of muscle weakness contributes to the manifestation of complications associated with the disease. Chronic steroid use weakens the skin, making it friable and highly susceptible to breakdown and ulceration. The skin breakdown and ulceration dramatically increases the potential for infection and sepsis. Progression of the muscle weakness reduces pulmonary function. Scoliosis and hyperlordosis, the result of contractures within the spinal column, lead to development of restrictive pulmonary disease. Loss of function of the accessory muscles of breathing, the intercostals, and sternocleidomastoids contributes further to the loss of pulmonary function and the possible development of atelectasis and pneumonia. Continuous positive airway pressure (CPAP) or bi-level positive airway pressure (BiPAP) are two minimally invasive methods of pulmonary support. Development of atelectasis and pneumonia can be thwarted by frequent daily use of incentive spirometry. Broad-spectrum antibiotics may be required if pneumonia does develop. As the disease progresses, pulmonary function continues to decline, often producing increasing restrictions and ultimately creating the necessity for a tracheostomy to reduce some of the work of breathing.

Dystrophin is also found significantly in cardiac and brain tissues. As such, loss of dystrophin in these two tissues produces cardiac dysfunction and mental developmental delays. Pseudohypertrophy may also occur in the heart leading to cardiac fibrosis. Cardiac fibrosis, in turn, results in reduced cardiac output with ensuing pulmonary congestion that spirals down to fulminate congestive heart failure. The cardiac fibrosis also affects the cardiac conduction system, which may be evidenced by tall R waves in the V ₁ lead, deep Q waves in the AVL, AVR, and AVF leads, shortened PR interval, and sinus tachycardia. Lethal dysrhythmias may occur.

Loss of dystrophin from cerebral tissue leads to developmental delays and diminished intellectual development. There is a shift to the left with regard to intelligence quotient (IQ) distribution, with a mean IQ being about 83 for these patients.

See Becker’s dystrophy (p. 45).