Limb Girdle Muscular Dystrophy

What is Limb Girdle Muscular Dystrophy?

Limb girdle muscular dystrophy (LGMD) is inherited. It is a disorder of voluntary muscles that results in progressive limb, shoulder, and hip girdle weakness and wasting. Some of the symptoms that show these types of weaknesses are soreness of the muscles and joints, walking with a waddle, difficulties standing from the sitting position, difficulties using the arms above the head, and in some, problems with the heart and breathing. Onset of symptoms may occur from childhood to adulthood and in either males or females. It has been thought that if the symptoms arise in adulthood, the progression is not as fast as if they arise in childhood. LGMD does not shorten one's lifespan, however, problems can arise if the heart and lungs become weak.

What causes Limb Girdle Muscular Dystrophy?

LGMD is caused by mutations of genes that result in abnormal function of proteins in muscles, thereby causing progressive muscle weakness. The inheritance pattern of LGMD varies and different genetic defects may result in the same clinical symptoms in different patients. Sometimes, no obvious inheritance pattern can be identified. Broadly speaking, LGMD type 1 is dominantly inherited, and LGMD type 2 is recessively inherited.

How is Limb Girdle Muscular Dystrophy diagnosed?

Limb girdle muscular dystrophy is diagnosed mainly by creatine kinase level tests (a type of blood test), muscle biopsies, and EMGs.

How is Limb Girdle Muscular Dystrophy treated?

There are treatments to help with symptoms but no treatments are available to stop disease progression. Some treatments that help the symptoms are physical therapy, surgery, and care of the lungs and heart.

More Information

Muscular Dystrophy Association
Hereditary Disease Foundation
Alliance of Genetic Support Groups