Muscular Dystrophy Health Article

Recovery and rehabilitation

To date, there is no known treatment, medicine, or surgery that will cure MD, or stop the muscles from weakening. The goal of treatment is to prevent deformity and allow the child to function as independently as possible at home and in the community.

Physical therapy

In general, patients are given supportive care, together with leg braces and physical therapy to maximize their ability to function in daily life. Stretching limbs to avoid tightened tendons and muscles is particularly important. When tightness of tendons develops (called contractures), surgery can be performed. When chest muscles are involved, respiratory therapy may be used to delay the onset of breathing problems. In addition, people with MD are given age-appropriate dietary therapy to help them avoid obesity. Obesity is especially harmful to patients with MD because it places additional strain on their already weak muscles. Unfortunately, many MD patients are at a high risk of obesity because their limited physical activity prevents them from exercising.

Wheelchair prescription

If the person with MD becomes nonambulatory, wheelchair mobility is essential. The wheelchair should complement the patient's lifestyle, providing comfort, safety, and functionality. Special attention should be given to the frame, seat, backrest, front rigging, rear wheels, and casters because of the functional weakness and contractures in the upper and lower extremities of patients with limb-girdle dystrophy. An accessible home and work environment and personal or public transportation with safe restraint systems for the wheelchair are also important.

Additional resources

Specific planning for vocational needs and desires may be coordinated with therapists. Resources within the community, such as the Parks and Recreation Department for activity programs, may be explored. Educational institutions, from public schools to community colleges and universities, have resources that may be used. Adaptive physical education program and Disabled Student Services generally are available for persons with MD.

Clinical trials

There are numerous open clinical trials for MD:

• An open-label pilot study of Oxatomide in steroid-naive DMD, sponsored by Cooperative International Neuromuscular Research Group;
• An open-label pilot study of Coenzyme Q10 in steroid-treated DMD, sponsored by Cooperative International Neuromuscular Research Group;
• Study of Inherited Neurological Disorders, sponsored by National Institute of Neurological Disorders and Stroke (NINDS);
• Study of Albuterol and Oxandrolone in Patients With FSHD, sponsored by the Food and Drug Administration Office of Orphan Products Development.

Updated information on clinical trials is available at the National Institutes of Health website for clinical trials at <www.clinicaltrials.org>.

Prognosis

The prognosis varies according to the type of MD and its progression. Some patients have only mild symptoms with a normal lifespan, whereas others have severe symptoms and die at a young age. For example, children with DMD often die before age 18 because of respiratory failure, heart failure, pneumonia or other problems. In persons with BMD, death tends to occur later. Some examples of complications associated with MD that lead to permanent, progressive disability are:

• deformities, such as scoliosis and joint contractures
• decreased mobility
• decreased ability to perform daily self-care tasks, such as bathing and dressing
• mental impairment (varies)
• cardiomyopathy (weakened heart muscle)
• respiratory failure

Special concerns

Genetic counseling is an important aspect of the care and evaluation of patients with DMD and BMD and their family members. A minority of female carriers have MD symptoms, but even in these symptomatic patients, correct diagnosis requires appropriate testing. In families in which an affected male has a known deletion or duplication of the dystrophin gene, testing for carrier status is performed accurately by testing possible carriers for the same mutation, the absence of which would exclude them as a carrier.

BOOKS

Parker, James N., and Philip M. Parker. The 2002 Official Patient's Sourcebook on Muscular Dystrophy. San Diego: Icon Group International, 2002.

Siegel, Irwin M. Muscular Dystrophy in Children: A Guide for Families. Gardena, CA: Scb Distributors, 1999.

Thompson, Charlotte. Raising a Child with a Neuromuscular Disorder: A Guide for Parents, Grandparents, Friends, and Professionals New York: Oxford Press, 1999.

Wolfson, Penny. Moonrise: One Family, Genetic Identity, and Muscular Dystrophy. New York: St. Martin's Press, 2003.

PERIODICALS

Emery, A. "The muscular dystrophies." The Lancet 359 (February 2002): 687–695.

OTHER

"Facts About Duchenne and Becker Muscular Dystrophies (DMD and BMD)" Muscular Dystrophy Association. (March 20, 2004). <http://www.mdausa.org/publications/fa-dmdbmd.html>.

"NINDS Muscular Dystrophy (MD) Information Page"

National Institute of Neurological Disorders and Stroke. (March 20, 2004). <http://www.ninds.nih.gov/health_and_medical/disorders/md.htm>.

ORGANIZATIONS

Muscular Dystrophy Association. 3300 East Sunrise Drive, Tucson, AZ 85718-3208. (520) 529-2000 or (800) 572-1717; Fax: (520) 529-5300. mda@mdausa.org. <http://www.mdausa.org/>.

Muscular Dystrophy Family Foundation. 2330 North Meridien Street, Indianapolis, IN 46208. (317) 923-6333 or (800) 544-1213; Fax: (317) 923-6334. mdff@mdff.org. <http://www.mdff.org/>.

Parent Project for Muscular Dystrophy Research. 1012 North University Blvd., Middletown, OH 45042. (413) 424-0696 or (800) 714-KIDS (5437); Fax: (513) 425-9907. ParentProject@aol.com. <http://www.parentprojectmd.org>.

Francisco de Paula Careta

Iuri Drumond Louro, MD, PhD