Limb-girdle muscular dystrophy
What is limb-girdle muscular dystrophy?
Limb-girdle muscular dystrophy (LGMD) is not just one genetic disease, it is the name for a group of disorders which have different causes, but many of the same health problems. The common feature of LGMDs is weak and wasted shoulder and hip muscles (the limb-girdles). This weakness usually worsens over time and can cause problems walking, lifting arms, and getting up from sitting. With some forms of LGMD, these muscles can weaken to the point that a wheelchair or other assistive devices are necessary for mobility. Some types of LGMD can also involve the heart (cardiac) and ability to breathe (respiratory muscles).
Different types of LGMD may get worse or progress faster or slower, so identifying the specific cause through genetic testing may be helpful to get an idea of what to expect. Some types progress quickly, causing serious problems moving over the course of a few years, while others may progress very slowly and cause minimal problems.
Voluntary muscles are the muscles that we control to move our bodies. We also have involuntary muscles that we don't consciously control such as the muscles in our digestive system and blood vessels. LGMDs generally don't affect these involuntary muscles, with the exception of the heart which can be affected in some types.
The onset of LGMD can occur during childhood, teenage years, or adulthood. The health problems and severity of the condition can vary from person to person. For example, some individuals with LGMD have very mild symptoms that do not affect lifespan. However, others have severe symptoms that cause them to pass away early. In general, it seems that the later the symptoms appear, the less severe they are.
Intelligence is normal in people affected with LGMDs, as are the senses. Both genders are affected equally.
There are more than 20 types of LGMD, caused by mutations in many different genes. Some are inherited through the family in a dominant manner, while others are inherited in a recessive manner. Limb-girdle muscular dystrophies are separate from the more common X-linked muscle conditions like Duchenne Muscular Dystrophy and Becker Muscular Dystrophy.
More information on the LGMDs can be found at MDA LGMD page
There is a very good summary about LGMD written for healthcare professionals at GeneReviews page for LGMD.
To find a medical professional nearby who can discuss information and testing, A listing of medical geneticists can be found at the American College of Medical Geneticists website and genetic counselors can be found on the National Society of Genetic Counselors website.
Babameto-Laku, A., Tabaku, M., Tashko, V., Cikuli, M., Mokini, V. The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation. Genet. Counsel. 22: 377-383, 2011. [PubMed: 22303798]