Muscular dystrophy is a group of inherited, progressive muscle disorders. All forms cause progressive weakness and degeneration of the muscles that control movement. Some also affect the heart or other organs. Age of onset is between infancy to adulthood. The different forms include:
This condition is caused by defects in genes that control muscle development and function. In some cases, the genes are passed from parent to child. In other cases, the genetic mutation occurs spontaneously.
These factors increase your chance of developing muscular dystrophy. Tell your doctor if you have any of these risk factors:
Symptoms common to most forms of muscular dystrophy may include:
Initial symptoms:
Later symptoms:
Severe Muscle Contraction of the Hand
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Symptoms specific to Duchenne and Becker dystrophy include:
Symptoms specific to myotonic muscular dystrophy include:
Symptoms usually become progressively worse. In many forms, life expectancy is shortened.
The doctor will ask about your symptoms and medical history. She will also do a physical exam.
Tests may include:
There is no cure. However, treatment may help improve the symptoms.
Treatment may consist of:
Physical therapy and exercise can help prevent the muscles from permanently contracting and stiffening.
In earlier stages, wearing braces may improve your ability to move around. A back brace may slow curvature of the spine.
Medicines may include:
Much research is being done in this area. A new technique called “gene transfer” therapy has been used with some good early results in certain forms of dystrophy.
In severe cases, surgery may be needed to release muscles that are painfully tight. If there are heart problems, a pacemaker may be needed.
Muscular dystrophy is an inherited disease. Get genetic counseling if you are concerned about having a child with muscular dystrophy, especially if you:
RESOURCES:
Muscular Dystrophy Association
http://www.mdausa.org/
Muscular Dystrophy Family Foundation
http://www.mdff.org/
Parent Project Muscular Dystrophy
http://www.parentprojectmd.org/
CANADIAN RESOURCES:
Canadian Institute of Health Research
http://www.cihr-irsc.gc.ca/
Muscle Dystrophy Canada
http://www.muscle.ca/
References:
Aartsma-Rus A, den Dunnen JT, van Ommen GJ. New insights in gene-derived therapy: the example of Duchenne muscular dystrophy. Ann NY Acad Sci. 2010;1214:199-212.
Amato AA, Griggs RC. Overview of the muscular dystrophies. Handb Clin Neurol. 2011;101:1-9.
Berkow R. The Merck Manual of Medical Information . 17th ed. New York, NY: Pocket; 2000.
Creatine. EBSCO Natural and Alternative Treatments website. Available at: http://www.ebscohost.com/healthLibrary/ . Updated November 2008. Accessed March 5, 2008.
Duchenne muscular dystrophy. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed/what.php . Updated January 31, 2008. Accessed February 23, 2008.
Escolar DM, Hache LP, Clemens PR, et al. Randomized, blinded trial of weekend vs daily prednisone in Duchenne muscular dystrophy. Neurology. 2011;77(5):444-452.
Gene transfer therapy for treating children and adults with limb girdle muscular dystrophy type 2D (LGMD2D). Clinical Trials.gov website. Available at: http://clinicaltrials.gov/ . Accessed September 4, 2011.
Kasper DL, Braunwald E, Fauci AS, et al. Harrison's Principles of Internal Medicine . 16th ed. New York, NY: The McGraw-Hill Companies; 2005.
Moxley RT, Heatwole C. Myotonic dystrophy. Medlink website. http://www.medlink.com . Accessed March 16, 2007.
Muscular Dystrophy Association website. Available at: http://www.mdausa.org .
NINDS muscular dystrophy information page. National Institute of Neurological Disorders and Stroke website. Available at: http://www.ninds.nih.gov/ . Updated January 27, 2009. Accessed February 6, 2009.
Last reviewed [Under Medical Review] by Lawrence Frisch, MD, MPH
Please be aware that this information is provided to supplement the care provided by your physician. It is neither intended nor implied to be a substitute for professional medical advice. CALL YOUR HEALTHCARE PROVIDER IMMEDIATELY IF YOU THINK YOU MAY HAVE A MEDICAL EMERGENCY. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with any questions you may have regarding a medical condition.
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