limb-girdle muscular dystrophy type 2D
Limb-girdle muscular dystrophy type 2D (LGMD2D) is a genetic disorder that primarily affects the muscles around the hips and shoulders. It is caused by mutations in the SGCA gene, which is responsible for producing a protein called alpha-sarcoglycan. This protein is essential for muscle function, and its absence leads to progressive muscle weakness and wasting.
Symptoms of LGMD2D typically appear in childhood or early adulthood and may include difficulty walking, climbing stairs, and lifting objects. The condition is inherited in an autosomal recessive pattern, meaning that an individual must inherit two copies of the mutated gene to develop the disorder.