Limb Girdle Muscular Dystrophy (LGMD)

Limb-girdle muscular dystrophy is a term used for a group of diseases that cause muscle weakness and wasting in the arms and legs.

Muscles most affected.

Proximal muscles (middle of the body) are especially the muscles of the shoulders, upper arms, pelvic area and thighs.

It is genetically heterogeneous and the clinical symptoms of the disease include initial weakness of hip and shoulder muscles. After that, the muscles of the proximal part of the hand and foot are also involved.

The analysis showed the association of genes with the disease, both in large families and in families with consanguineous marriages.

At least 11 different loci are responsible for Limb Girdle Muscular Dystrophy.

Defects in sarcoglycan prevent binding of F-actin to the extracellular matrix by dystrophin.

Muscle cells degenerate and the ability of muscles is lost.

The effect of limb girdle muscular dystrophy on the body

Limb girdle muscular dystrophy can develop at any age.

In the early stages of the disease, patients may have an unusual gait, have difficulty running, fall more often, and have difficulty standing after sitting on the floor.

Cardiomyopathy, or atrophy of the heart muscle, affects some forms of LGMD. Also, patients are subject to weakness of the diaphragm muscles needed for breathing. These more severe symptoms are associated with certain types of LGMD.

Diagnosis of limb girdle muscular dystrophy

Limb girdle muscular dystrophy is easily confused with other types of muscle wasting conditions.

As there are more than 30 types of limb girdle muscular dystrophy, diagnosis can be difficult.

After a physical examination and family history review, the doctor may order a muscle biopsy or electromyography test to confirm the diagnosis.
The only way to diagnose a patient with a specific type of LGMD is through genetic testing.