Muscular dystrophy

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Causes

By Mayo Clinic staff

Muscular dystrophy is a general term for a group of inherited diseases involving a defective gene. Each form of muscular dystrophy is caused by a genetic mutation that's particular to that type of the disease. The most common types of muscular dystrophy appear to be due to a genetic deficiency of the muscle protein dystrophin.

Inheriting Duchenne's or Becker's MD
Duchenne's and Becker's muscular dystrophies are passed from mother to son through one of the mother's genes in a pattern called X-linked recessive inheritance. Boys inherit an X chromosome from their mothers and a Y chromosome from their fathers. The X-Y combination makes them male. Girls inherit two X chromosomes, one from their mothers and one from their fathers. The X-X combination determines that they are female.

The defective gene that causes Duchenne's and Becker's muscular dystrophies is located on the X-chromosome. Women who have only one X-chromosome with the defective gene that causes these muscular dystrophies are carriers and sometimes develop heart muscle problems (cardiomyopathy) and mild muscle weakness. The disease can skip a generation until another son inherits the defective gene on the X-chromosome. In some cases of Duchenne's and Becker's muscular dystrophies, the disease arises from a new mutation in a gene rather than from an inherited defective gene.

Patterns differ for other types of MD
Myotonic dystrophy and most MFMs are passed along in a pattern called autosomal dominant inheritance. If either parent carries the defective gene for myotonic dystrophy, there's a 50 percent chance the disorder will be passed along to a child.

Some of the less common types of muscular dystrophy are passed along in the same inheritance pattern that marks Duchenne's and Becker's muscular dystrophies. Other types of muscular dystrophy can be passed on from generation to generation and affect males and females equally. Still others require a defective gene from both parents.

References
  1. Muscular dystrophy: Hope through research. National Institute of Neurological Disorders and Stroke. http://www.ninds.nih.gov/disorders/md/detail_md.htm. Accessed Oct. 27, 2009.
  2. Darras BT. Clinical features and diagnosis of Duchenne and Becker muscular dystrophy. http://www.uptodate.com/home/index.html. Accessed Oct. 27, 2009.
  3. Darras BT. Treatment of Duchenne and Becker muscular dystrophy. http://www.uptodate.com/home/index.html. Accessed Oct. 27, 2009.
  4. Harrison T. Muscular dystrophy. In: Ferri FF. Ferri's Clinical Advisor 2010. St. Louis, Mo.: Mosby; 2009. http://www.mdconsult.com/das/book/body/167174288-4/0/2088/428.html#4-u1.0-B978-0-323-05609-0..00022-8--s3715_8791. Accessed Oct. 27, 2009.
  5. Selcen D (expert opinion). Mayo Clinic, Rochester, Minn. Nov. 8, 2009.
  6. Centers for Disease Control and Prevention, et al. Prevalence of Duchenne/Becker muscular dystrophy among males aged 5-24 years — Four states, 2007. Morbidity and Mortality Weekly Report. 2009;58:1119.
  7. Kohler M, et al. Disability and survival in Duchenne muscular dystrophy. Journal of Neurology, Neurosurgery and Psychiatry. 2009;80:320.

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Dec. 8, 2009

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