What is Limb-Girdle Muscular Dystrophy?

Limb-girdle muscular dystrophy is a condition which causes muscle weakness, generally in the muscles located closest to the body such as the pelvis and shoulders. Symptoms can eventually spread outward to the arms and legs, but they rarely affect the hands and feet. This condition is caused by a genetic defect that can lead to muscular proteins being released or withheld at the wrong times. This can cause malfunction in the muscle fibers, leading to weakness.

Both children and adults can be affected by limb-girdle muscular dystrophy. Weakness is generally subtle at first and may spread from the original area to areas farther away from the body’s core. There is no cure, and it is a progressive illness, which means that it will get worse as the patient gets older.

Each person is different, and limb-girdle muscular dystrophy may progress slowly over several years or it may progress much more rapidly. Some research suggests that children are more severely affected than those who experience their first symptoms as adults. Patients may eventually lose all or some function in the arms and legs, and they may become wheelchair bound. Sometimes physical therapy is beneficial.

Limb-girdle muscular dystrophy is believed to affect muscle proteins at a cellular level. The cells responsible for regulating the release of these proteins do not work properly and can release them too quickly, too slowly, or not at all. Not all versions of this condition affect the cells directly.

There are several forms of limb-girdle muscular dystrophy and each one is caused by a slightly different malfunction. All cause weakness and loss of function in the muscles. Some progress more quickly than others and cause more problems. Testing can be done to determine the exact cause of the condition in each individual patient. There are specific names for each type, and eventually patients may be classified as these rather than such by using such a broad term.

Since this condition is caused by genetic factors, there are no prevention methods which are effective at reducing the risk of limb-girdle muscular dystrophy. Potential parents may be able to undergo genetic counseling to determine their risk of having a baby with genetic abnormalities, but this is not a guarantee for healthy or unhealthy children since these tests are not always completely accurate. This condition is relatively uncommon.

Those who exhibit sudden or gradual weakness in the muscles should be seen by a doctor for testing. There are various conditions which can cause similar symptoms, and some will require immediate treatment. If limb girdle muscular dystrophy is diagnosed, treatment may be begun and patients may learn coping techniques. Most patients progress over several years and loss of function is generally very gradual.