2. What is it? Muscular Dystrophy (MD) is a group of inherited diseases in which the voluntary muscles progressively weaken overtime. Heart and other organs can also be affected. MD affects more than 50,000 Americans. 9 major types: Duchenne, Myotonic, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, and Emery-Dreifuss
3. Can occur at any age Most common in young males. Type is based on what age the individual is when muscular dystrophy appears Also depends on how severe the disease is, which muscles it affects, rate of progression, and the way it appears. Some types of muscular dystrophy only affect males. Some individuals with this disease experience mild symptoms, while others suffer from severe muscle weakness, dying at an early age.
4. Causes Defects in certain genes The type of MD is determined by which gene is defective In 1986, researchers discovered the gene that, when defective causes Duchenne MD. In 1987, the muscle protein associated with this gene was given the name dystrophin When the gene fails to produce dystrophin, Duchenne MD occurs Duchenne muscular dystrophy is the most common and fatal childhood type.
5. Duchenne Muscular Dystrophy 1 in 3500 male births Begins with proximal muscle weakness around age 4 Progresses to distal muscles, making walking more difficult Around age 10, most children are in wheelchairs Some experience cognitive problems
6. Most types of MD are a form of inherited disease called X-linked disorders or genetic diseases that mothers can pass on to their child, even though the mothers are not affected by the disease. Some forms of MD are not inherited but occur because of a gene abnormality or mutation.
7. Symptoms All forms: muscle weakness Myotonic: muscle spasms or stiffening after use, hand weakness, foot drop Duchenne and Becker: clumsiness, frequent falling, difficulty getting up, waddling gait, curvature of the spine. Drooling, eyelid drooping
9. MD Diagnosis Muscle biopsy DNA testing Blood enzyme tests Electromyography or nerve conduction tests Electrodes are used to test the muscle and/or nerves
10. Treatment No cure Medications and therapy can relieve symptoms and slow progression of the disease However, scientists are researching ways to insert a working dystrophin gene into muscles of boys with Duchenne and Becker MD Also, researchers are exploring potential muscle-building drugs to help reverse progression Dietary supplements, creatine, and glutamine are other potential treatments being studied http://www.youtube.com/watch?v=JnDVRB1DIUA
11. Braces, wheelchairs, and canes can improve mobility Surgery on the spine or legs also may be an option to improve function. Exercise! People suffering from MD should be as active as possible. Physical inactivity may make the disease worse
12. Benefits of Exercise Primary focus is on gaining muscular strength and endurance Aerobic exercise is important in preventing excess body fat, as well as decreasing cardiovascular risk factors Stretching increases ROM and prevents contractures For children, exercise activities should be as game-like as possible
13. Medications Corticosteroids can slow muscle damage in patients with Duchenne muscular dystrophy. Phenytoin, procainamide, or quinine may treat delayed muscle relaxation for those with Myotonic MD. Medications can also be prescribed to treat heart problems in some forms of muscular dystrophy. Many studies are being conducted to find additional treatment methods
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15. References Durstine, J. Larry., and Geoffrey E. Moore. “Muscular Dystrophy." ACSM's Exercise Management for Persons with Chronic Diseases and Disabilities. 2nd ed. Champaign, IL: Human Kinetics, 2003. 254-258. "Muscular Dystrophy - PubMed Health." Web. 22 Mar. 2011. <http://www.ncbi.nlm.nih.gov/pubmedhealth/PMH0002172/>. "Muscular Dystrophy - Duchenne Muscular Dystrophy - Becker Muscular Dystrophy - Limb-girdle Muscular Dystrophy » Types of Muscular Dystrophy." Health, Fitness, Glamour Online Magazine. Web. 22 Mar. 2011. <http://www.magazine.ayurvediccure.com/types-of-muscular-dystrophy/>. www.webmd.com
