Causes
By Mayo Clinic staffHundreds of genes are involved in making proteins that protect muscle fibers from damage. Muscular dystrophy occurs when one of these genes is defective. Each form of muscular dystrophy is caused by a genetic mutation that's particular to that type of the disease. Many of these mutations are inherited, but some occur spontaneously in the mother's egg or the developing embryo.
- Muscular dystrophy: Hope through research. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/md/detail_md.htm. Accessed Nov. 2, 2011.
- Amato AA, et al. Muscular dystrophies and other muscle diseases: Hereditary myopathies. Longo DL, et al. Harrison's Online. 18th ed. New York, N.Y.: The McGraw-Hill Companies; 2012. http://www.accessmedicine.com/resourceTOC.aspx?resourceID=4. Accessed Nov. 2, 2011.
- Chinnery PF. Muscle diseases: Muscular dystrophies. In: Goldman L, et al. Cecil Medicine. 24th ed. Philadelphia, Pa.: Saunders Elsevier; 2011. http://www.mdconsult.com/das/book/body/191371208-2/0/1492/0.html#. Accessed Nov. 2, 2011.
- Amato AA, et al. Disorders of skeletal muscle. In: Bradley WG, et al. Neurology in Clinical Practice. 5th ed. Philadelphia, Pa.: Butterworth-Heinemann Elsevier; 2008. http://www.mdconsult.com/books/about.do?about=true&eid=4-u1.0-B978-0-7506-7525-3..X5001-8--TOP&isbn=978-0-7506-7525-3&uniqId=230100505-57. Accessed Nov. 3, 2011.
- Darras BT. Patient information: Overview of muscular dystrophies. http://uptodate.com/home/index.html. Accessed Nov. 4, 2011.
- Kohler M, et al. Disability and survival in Duchenne muscular dystrophy. Journal of Neurology, Neurosurgery and Psychiatry. 2009;80:320.
- Ishikawa Y, et al. Duchenne muscular dystrophy: Survival by cardio-respiratory interventions. Neuromuscular Disorders. 2001;21:47.
- Harrison T. Muscular dystrophy. In: Ferri FF. Ferri's Clinical Advisor 2011: Instant Diagnosis and Treatment. Philadelphia, Pa.: Mosby Elsevier; 2011. http://www.mdconsult.com/books/about.do?eid=4-u1.0-B978-0-323-05610-6..C2009-0-38600-6--TOP&isbn=978-0-323-05610-6&about=true&uniqId=230100505-53. Accessed Nov. 4, 2011.
- Carter GT, et al. Aging with muscular dystrophy: Pathophysiology and clinical management. Physical Medicine & Rehabilitation Clinics of North America. 2010;21:429.
- Darras BT. Treatment of Duchenne and Becker muscular dystrophy. http://www.uptodate.com/home/index/html. Accessed Nov. 4, 2011.
- Borg K, et al. Myopathies. In: Frontera WR, et al. Essentials of Physical Medicine and Rehabilitation: Musculoskeletal Disorders, Pain, and Rehabilitation. 2nd ed. Philadelphia, Pa.: Saunders Elsevier; 2008. http://www.mdconsult.com/das/book/body/208746819-6/0/1678/0.html. Accessed Nov. 4, 2011.
- Darras BT, et al. Myotonic dystrophy: Prognosis and management. http://www.uptodate.com/home/index.html. Accessed Nov. 4, 2011.
- Bushby K, et al. Diagnosis and management of Duchenne muscular dystrophy, part 1: Diagnosis, and pharmacological and psychosocial management. The Lancet Neurology. 2010;1:77.
- Bushby K, et al. Diagnosis and management of Duchenne muscular dystrophy, part 2: Implementation of multidisciplinary care. The Lancet Neurology. 2010;2:177.
- Selcen D (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 13, 2011.

Find Mayo Clinic on