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Limb-girdle muscular dystrophies
Alternative namesMuscular dystrophy - limb-girdle type
DefinitionLimb-girdle muscular dystrophies include at least 10 different inherited disorders that initially affect the muscles around the shoulder girdle and the hips. These diseases are progressive and may involve other muscles over a period of time.
Causes, incidence, and risk factors
This is a large group of genetic diseases featuring muscle weakness and wasting (muscular dystrophy). Most are inherited in an autosomal recessive manner (both parents must have the defective gene for a child to inherit it), but some are autosomal dominant (only one parent needs to carry the bad gene to affect the child). For some of these conditions, the defective gene has been discovered, but for others, the gene is not yet known.
Typically, onset of pelvic muscle weakness (difficulty standing from a sitting position without using arms, difficulty climbing stairs) starts in childhood to young adulthood. Later there is the onset of shoulder weakness with progression to significant loss of mobility or wheelchair dependence over the next 20-30 years.
An important risk factor is having a family member with muscular dystrophy .
Signs and tests
TreatmentThere are no known treatments that directly reverse the muscle weakness. Gene therapy may available in the future. Supportive treatment can decrease the complications of the disease.
Support GroupsThe The Muscular Dystrophy Association is an excellent resource (800-572-1717).
This is a large group of related but distinct diseases. In general, it is expected that there will be slow progression of weakness, which worsens in affected muscles, spreads, and progresses further.
Heart muscle weakness and the tendency to have abnormal electrical activity of the heart can increase the risk of palpitations, fainting and sudden death. Most patients with this group of diseases live into adulthood, but do not reach their full life expectancy.
Calling your health care providerCall your health care provider if you or your child note weakness while rising from a squatting position. Call a geneticist if you or a family member have a diagnosis of muscular dystrophy and you are planning a pregnancy.
PreventionGenetic counseling may help prevent some cases. Some of the complications can be prevented by appropriate treatment. For example, a cardiac pacemaker or defibrillator can significantly reduce the risk of sudden death due to an abnormal heart rhythm. Physical therapy may be able to prevent and/or delay contractures.
Update Date: 11/12/2002David G. Brooks, M.D., Ph.D., Division of Medical Genetics, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Last updated: Tue, 06 Jan 2009 00:20:03 GMT