Genetic Test
The SGCD (Sarcoglycan Delta) gene encodes a protein that forms part of the linkage between the cytoskeleton and the extracellular matrix in skeletal and cardiac muscle cells.
This protein is essential for maintaining the structural integrity and proper function of muscle tissues.
Mutations in the SGCD gene have been associated with limb-girdle muscular dystrophy (LGMD), a hereditary muscle disorder characterized by progressive weakness and atrophy of the proximal muscles.
This genetic test targets a specific SGCD mutation linked to limb-girdle muscular dystrophy.
Disease Description
Limb-girdle muscular dystrophy (LGMD) is a hereditary disorder that primarily affects the muscles of the shoulders and hips.
While the proximal muscles of the limbs are most commonly involved, muscle degeneration can also extend to the heart and respiratory muscles, potentially leading to cardiac and breathing difficulties.
