Treatment and Management of the Disease
There is no known cure for Duchenne Muscular Dystrophy (DMD). Treatment is aimed at control of symptoms to maximize the quality of life. Since 1970's, the development of various treatments has extended life span into adulthood. The widely applied interventions in many countries are described below:
Home Nocturnal Ventilation. Appropriate respiratory support has been shown to be effective in managing the progress of the disease. Modern 'volume ventilators,' which deliver a preset volume of air to the person with each breath, is effective in dealing with respiratory problems. Ventilator treatment usually begins in childhood when the respiratory muscles begin to fail.
One study based on 197 patients showed that the 'median' span of life in the 1960s was 14.4 years, whereas those patients who have been ventilated since 1990 have a 'median' survival rate of 25.3 years. 'Median' survival is calculated as the time at which half of the study patients remain alive. For the group as a whole, the option of nocturnal ventilation has significantly improved the chances of survival into the mid-twenties and beyond..
A recent study also indicated that the combination of spinal surgery and the provision of nocturnal ventilation have an additive effect on survival for boys with a progressive spinal curvature and respiratory failure but without severe progressive cardiac muscle disease. The combined interventions showed further improvement of median survival to 30 years. The researchers added that the two interventions together enhance longevity to a greater extent than either one alone. However, there are also conflicting views on the benefits of spinal surgery. Another study concluded that no evidence-based recommendation can be made for surgical intervention, and highlighted the potential risks of surgery. It added that further trials were needed to investigate the effectiveness of spinal surgery in terms of patients' quality of life, functional status, respiratory function and life expectancy.
Use of Corticosteroids. Another breakthrough in the management of the disease is the use of corticosteroids. The use of deflazacort, as revealed by studies, has a very significant impact on the health and quality of life of boys with DMD and their families, and entails few side effects. The treatment increases energy and strength, and defers the severity of some symptoms. Studies have shown that treated boys were able to rise from supine to standing, climb stairs and walk ten metres without aid, and live three to five years longer. At the age of ten, treated boys had significantly better pulmonary function. At fifteen, none of the treated boys required nocturnal ventilation, while half of the untreated boys did. For boys over fifteen, none of the treated boys required assistance with feeding, while two out of three untreated boys did.
While the research confirmed the clear benefits of corticosteroid treatment such as decreased risks of scoliosis (spinal curvature) and an extension of more than three years to independent walking, another study demonstrated that those on long-term corticosteroid treatment were more likely to suffer from osteoporosis (bone thinning) and bone damage, leading to fractures in the long bones and in the vertebral bones. The researchers were unsure of the reasons for the difference but suggested it might be because the boys taking long-term corticosteroids generally weighed more and were able to extend their walking years.
Physiotherapy and home exercise. Physiotherapy is the physical treatment or management of a condition. There is plenty of anecdotal evidence to support the role of physiotherapy in helping to manage neuromuscular conditions. The aim is to minimise the development of contractures and deformity through a programme of stretches and exercises where appropriate, as well as to anticipate and minimise other secondary complications of a physical nature. Furthermore, appropriate equipment could be prescribed, such as orthoses, wheelchairs and standing frames. The wearing of night splints or ankle-foot orthoses in conjunction with passive stretching is the most effective way of reducing the development of contractures. It is essential that the night splints fit properly, and are comfortable and lightweight. Early introduction is likely to result in greater compliance. Prolonged periods of bed rest should be discouraged because they can accelerate the weakening of muscles.
The most effective way of delaying deterioration in muscle strength is active exercise, although care must be taken to ensure that the child is not over-fatigued. He should be encouraged to walk for as long as possible to maintain muscle tone; however, his walking may be laboured. Though everyday activity within the individual's limits should be encouraged, strenuous exercise should be avoided. Supervised swimming is excellent. Passive exercises to prevent contractures that result from immobility can be carried out by parents, partners, or friends, but it is advisable to have a physiotherapist or a trained person to demonstrate the various procedures.
Holistic management. Since DMD affects different parts of the body as the disease progresses, it is imperative that the condition is monitored and managed in a holistic manner. Interventions, ranging from physiotherapy, nocturnal ventilation, spinal surgery, and use of drugs to manage respiratory and cardiac complications, require inputs from a team of specialists working 'harmoniously' and in partnership with the patients and their caregivers. Proper dieting and exercises play an important role. A well balanced diet with adequate fiber to overcome problems of constipation, and a low-fat diet to prevent excess weight gain, is encouraged, especially when individuals become immobile.
Of equal relevance to the physical aspects are the psychological conditions of the patients as well as their parents, siblings and caregivers. Emotional support is important. The stress caused by the diagnosis of DMD and the subsequent progression of the condition can cause widespread problems in the family. There may be feelings of guilt, particularly in the mother if she is a carrier. The initial shock of the diagnosis may be followed by feelings of anger, anxiety and depression. Problems may develop within the marital relationship, with parents finding it difficult to express and share their emotions. In addition, the effects on the siblings must be considered.