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What is it?<br />Muscular Dystrophy (MD) is a group of inherited diseases in which the voluntary muscles progressively weaken overtime.<br />Heart and other organs can also be affected.<br />MD affects more than 50,000 Americans.<br />9 major types:<br />Duchenne, Myotonic, Becker, Limb-girdle, Facioscapulohumeral, Congenital, Oculopharyngeal, Distal, and Emery-Dreifuss<br />
Can occur at any age<br />Most common in young males.<br />Type is based on what age the individual is when muscular dystrophy appears<br />Also depends on how severe the disease is, which muscles it affects, rate of progression, and the way it appears.<br />Some types of muscular dystrophy only affect males.<br />Some individuals with this disease experience mild symptoms, while others suffer from severe muscle weakness, dying at an early age.<br />
Causes<br />Defects in certain genes<br />The type of MD is determined by which gene is defective<br />In 1986, researchers discovered the gene that, when defective causes Duchenne MD.<br />In 1987, the muscle protein associated with this gene was given the name dystrophin<br />When the gene fails to produce dystrophin, Duchenne MD occurs<br />Duchenne muscular dystrophy is the most common and fatal childhood type.<br />
Duchenne Muscular Dystrophy<br />1 in 3500 male births<br />Begins with proximal muscle weakness around age 4 <br />Progresses to distal muscles, making walking more difficult<br />Around age 10, most children are in wheelchairs<br />Some experience cognitive problems<br />
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.<br />Some forms of MD are not inherited but occur because of a gene abnormality or mutation.<br />
Symptoms<br />All forms: muscle weakness <br />Myotonic: muscle spasms or stiffening after use, hand weakness, foot drop <br />Duchenne and Becker: clumsiness, frequent falling, difficulty getting up, waddling gait, curvature of the spine. <br />Drooling, eyelid drooping<br />
Complications<br />Cardiomyopathy<br />Decreased self-independence and mobility<br />Lung failure<br />Muscle tightness around joints<br />Mental impairment<br />
MD Diagnosis<br />Muscle biopsy<br />DNA testing<br />Blood enzyme tests<br />Electromyography or nerve conduction tests<br />Electrodes are used to test the muscle and/or nerves<br />
Treatment<br />No cure<br />Medications and therapy can relieve symptoms and slow progression of the disease<br />However, scientists are researching ways to insert a working dystrophin gene into muscles of boys with Duchenne and Becker MD<br />Also, researchers are exploring potential muscle-building drugs to help reverse progression<br />Dietary supplements, creatine, and glutamine are other potential treatments being studied<br />http://www.youtube.com/watch?v=JnDVRB1DIUA<br />
Braces, wheelchairs, and canes can improve mobility<br />Surgery on the spine or legs also may be an option to improve function.<br />Exercise!<br />People suffering from MD should be as active as possible. <br />Physical inactivity may make the disease worse<br />
Benefits of Exercise<br />Primary focus is on gaining muscular strength and endurance<br />Aerobic exercise is important in preventing excess body fat, as well as decreasing cardiovascular risk factors <br />Stretching increases ROM and prevents contractures<br />For children, exercise activities should be as game-like as possible<br />
Medications<br />Corticosteroids can slow muscle damage in patients with Duchenne muscular dystrophy.<br />Phenytoin, procainamide, or quinine may treat delayed muscle relaxation for those with Myotonic MD.<br />Medications can also be prescribed to treat heart problems in some forms of muscular dystrophy.<br />Many studies are being conducted to find additional treatment methods <br />