Limb-girdle muscular dystrophy

Limb-girdle muscular distrophy is a classification of muscular distrophies that includes Duchenne muscular distrophy, Becker muscular distrophy, and a large number of lesser-known disorders.

The term "limb-girdle" is used to describe these disorders because the muscles most severely affected are generally those of the hips and shoulders -- the limb girdle muscles.

Common symptoms of limb-girdle muscular distrophy are muscle weakness, myoglobinuria, pain, myotonia, cardiomyopathy, elevated serum CK, and rippling muscles.

The muscle weakness is generally symmetric, proximal, and slowly progressive.

Generally pain is not present with LGMD, and mental function is not affected.

LGMD can begin in childhood, adolescence, young adulthood or even later. Both genders are affected equally. When limb-girdle muscular dystrophy begins in childhood the progression appears to be faster and the disease more disabling. When the disorder begins in adolescence or adulthood the disease is generally not as severe and progresses more slowly.

The distal muscles are affected late in LGMD, if at all. Over time (usually many years), the person with LGMD loses muscle bulk and strength. Eventually, he may need a power wheelchair or scooter, especially for long distances.

While LGMD isn't a fatal disease, it may eventually weaken the heart and lung muscles, leading to illness or death due to secondary disorders.

LGMD is typically an inherited disorder, though it may be inherited as a dominant, recessive, or x-linked genetic defect. The result of the defect is that the muscles cannot properly form the proteins needed for normal muscle function. Several different proteins can be affected, and the specific protein that is absent or defective identifies the specific type of muscular distrophy.

Treatment for LGMD is primarily supportive. Exercise and physical therapy are advised to maintain as much muscle strength and joint flexibility as possible. Assistive devices may be used to maintain mobility and quality of life. Careful attention to lung and heart health is also required.