An inherited group of at least 10 different muscular dystrophies that initially affects the muscles of the shoulder girdle and the hips. The disease is progressive and may involve other muscles over a period of time.
Alternative Names
Muscular dystrophy - limb-girdle type
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, but some are autosomal dominant. In several cases now the genes are known for this group of diseases. In a few cases the gene causing the disease remains to be discovered. Typically, onset of pelvic muscle weakness (difficulty standing from a sitting position without using arms, climbing stairs) 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. The risk is having a family member with muscular dystrophy.
Treatment
There 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 groups
Muscular Dystrophy Association, www.mdausa.org or 800-572-1717
Expectations (prognosis)
This is a large group of related, but distinct diseases. The general principles are that it is expected that there will be slow progression of weakness. In addition, slowly more muscles or parts of the body become weak. A concerning part of the disease is heart muscle weakness and tendency to have abnormal electrical activity of the heart. This can increase the risk of palpitations, falling out, 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 provider
Call 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.
Prevention
There is no simple prevention for genetic diseases. Some of the complications can be prevented by appropriate treatment. For example, a cardiac pacemaker, or defibrillator can significantly decrease the risk of sudden death due to an abnormal heart rhythm. Physical therapy may be able to prevent/delay contractures.