limb-girdle muscular dystrophy type 2C
Limb-girdle muscular dystrophy type 2C (LGMD2C) is a genetic disorder that primarily affects the muscles around the hips and shoulders. It is caused by mutations in the dystroglycan gene, which plays a crucial role in muscle function. Symptoms typically include muscle weakness and wasting, which can lead to difficulty in walking and performing daily activities.
The condition is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to develop the disorder. Diagnosis is usually confirmed through genetic testing and muscle biopsies, and while there is currently no cure, physical therapy can help manage symptoms and improve quality of life.