Health

Unfortunately, at this time there is no cure for any of the muscular diseases. Most children and adults choose to be treated through the services of the Muscular Dystrophy Association (MDA) Clinics. This clinic is a multidisciplinary clinic; most sites have a physical therapist, an MDA coordinator, respiratory therapist, and nursing staff in addition to physicians who specialize in either physical medicine and rehabilitation or neurology. Other persons may choose to see either a neurologist or a physical medicine and rehabilitation physician in another setting, especially if an MDA Clinic is not available in their area. For a listing of MDA Clinics and services in your area, please refer to the MDA website at www.mdausa.org.

Medications
There is no known cure as stated above; however, studies have shown that steroids may slow the progression of DMD and possibly other muscular dystrophies. According to a review article by the American Academy of Neurology (2005), prednisone has been shown to have a beneficial effect on muscle strength and function in boys with DMD and should be offered as treatment. Some potential side effects include weight gain, increased hair growth, or puffiness in the face. In other countries deflazacort is also used. The optimal time to begin using these medications has not yet been established, nor has the length of time recommended to treat with these medications.

Rehabilitative Treatment
Rehabilitation professionals are important in maintaining an optimal quality of life and in planning for future needs. These professionals include physiatrists, physical therapists, occupational therapists, speech language therapists, respiratory therapists, orthotists (brace-makers), case managers, social workers, educational coordinators, and rehabilitative nursing staff. In addition to managing the medications mentioned above, a physiatrist, or physical medicine and rehabilitation physician (rehab doctor) can assist with the ordering of special equipment including power wheelchairs, seating systems, braces and other ambulation aids, and other adaptive equipment in conjunction with physical or occupational therapists. They can also make recommendations with regard to exercise and activity, prevention of joint contractures, and school issues and can coordinate the health care plan with other physician specialists from pulmonology, cardiology, orthopaedic surgery, ophthalmology, and neurology. In some locations where there are no physiatrists, a neurologist may be the primary doctor managing these issues. Planning ahead for the expected disease course is important. Regular discussions between the family, affected person, and the treating physician should be expected. In boys with rapidly progressive muscle diseases like DMD, discussion of the inevitable power wheelchair and respiratory assistance must occur.

Secondary Conditions
Unfortunately, most of the muscular dystrophies don’t just affect skeletal muscle. In DMD, heart and lung muscles, as well as to some degree, the brain, are also affected. In MMD, heart, eyes, and brain are affected. Most of the other dystrophies also affect heart or lungs as well. Below is a summary of the other organ systems that may be affected in each specific dystrophy:

1. Heart: Cardiomyopathy (an enlarged heart) is part of DMD and Becker’s MD. MMD and Congenital MD affect the heart conduction system, and arrhythmias are common. Following up regularly with a cardiologist is important in these diseases.

2. Lungs: Unfortunately, the lung muscles are also affected in those with DMD and Becker’s MD. The progressive decline in lung function is one of the causes of death in DMD and Becker’s MD. First signs of respiratory problems may be headaches upon waking, daytime sleepiness, restless sleep, palpitations, nausea, and increased irritability. Pulmonary function tests such as blowing as much air as possible out of a tube as fast as possible are an important part of the management of these diseases. Often boys will need special machines to help clear their airways, such as the Vest to avoid lung complications like pneumonia. Some boys and their families choose tracheostomies and breathing machines or positive pressure ventilation by mask (figure xx) to prolong life later in the disease. Glossopharyngeal breathing (“frog-breathing” or breathing swallowed air) in those without tracheostomies and intact swallowing muscles may allow less reliance on mechanical breathing assistance, and serves as a back-up in cases of mechanical failure. Because lung weakness is predictable and inevitable, families should be encouraged to discuss their preferences with their treating team.

3. Eyes: Cataracts are common in MMD, and routine follow-up with an ophthalmologist is recommended.

4. Spine: Because the muscles of the back and trunk are also affected in neuromuscular diseases, scoliosis (back curvatures) often results. Spine fusion surgeries can help improve seating, decrease pain, and promote better posture for breathing, but does not change the final outcome of muscular dystrophy. Most boys and their families choose surgery for these reasons; however, early planning must be discussed with orthopedic surgeons as the surgery must be performed when lung function is still optimized to avoid complications during surgery. Custom seating systems can also be prescribed to best fit the shape of one’s back for optimal comfort.

5. Brain: MMD may be associated with decreased intellect secondary to systemic involvement. Unfortunately, persons with MMD are often perceived to be mentally dull secondary to their lack of facial expression from their facial muscle weakness. Boys with DMD may have a higher incidence of learning disabilities than unaffected boys their age, but intellectual decline is usually not a part of their expected disease course.

6. Other organs: In MMD, constipation, slower swallowing, and gallbladder problems may occur; fertility may also be affected. In DMD, excessive weight gain may be a problem as boys become more sedentary as they become full-time wheelchair users. Later optimal nutrition may become a problem. In later stages, sometimes a gastric tube to maximize nutritional intake is discussed as one option for boys; other measures include dietary supplements, or special diets as discussed above.