Muscular Dystrophy

            Muscular dystrophy (MD) refers to the group of genetic diseases that is characterized by symmetric and progressive wasting of skeletal muscles. The kind of muscle wasting does not have evidence of any neurologic involvement. In all kinds of MD, the loss of strength gradually builds up, with increasing deformity and disability. The different kinds of MD vary in the age of onset, muscle groups affected, progression rate, and mode of genetic inheritance. The most common kind is Duchenne. Both Becker and Duchenne MD are disorders that are X-linked, and these are usually seen only in males. Both types of MD have a mutation in the dystrophin gene. Dystrophin helps skeletal muscle fibers to attach to the basement membrane in normal muscle cells. When there is abnormal dystrophin, there are defects in the muscle fiber’s plasma membrane, and there is ensuing degeneration of the muscle fibers. Cardiomyopathy often occurs and the development of dysrhythmias are a frequent cause of death. Gradual reduction of respiratory function may often lead to the use of CPAP (continuous positive airway pressure), and eventually, a tracheostomy and mechanical ventilation are needed to keep respiration going.

            A family history is best done so that a family pedigree can be obtained. Diagnosis is made through muscle serum enzymes (most especially creatine kinase), electromyogram (EMG) testing, electrocardiogram abnormalities that reflect cardiomyopathy, and muscle fiber biopsy. The muscle biopsy can confirm the diagnosis through the findings of connective tissue and fat deposits, degeneration and necrosis of the muscle fibers, as well as dystrophin deficiency. To date, there is still no known definitive therapy to stop MD’s progressive wasting. Treatment goals focus on preserving independence and mobility through physical therapy, exercise, and assistive orthopedic appliances. Spinal collapse is inevitable as the muscles around the trunk progressively weaken, so to prevent the onset of injuries, the patient may be fitted even early on with an orthotic jacket to give stability and prevent any further deformities. Corticosteroid therapy may significantly stop the progression of the disease for up to 2 years.

            Nursing care must focus on encouraging family members to communicate in order for them to cope better with the strains of MD. Patient and family education include teaching range-of-motion exercises, signs of progression, and nutritional therapy. For people with a family history of MD, genetic testing and counseling may be suggested. The focus of care is around keeping the patient as active as long as he/she can. Immobility can lead to more muscle wastage, so it is best not to have prolonged bed rest. Once the disease progresses further, the focus of care shifts to teaching the patient to lessen sedentary periods so as to avoid respiratory complications and skin breakdown. Ongoing nursing and medical care are needed all throughout the patient’s lifetime (Lewis, Dirksen, Heitkemper, & Bucher, 2014, p. 1544).