Limb-girdle muscular dystrophy (LGMD) is a group of genetic disorders characterized by progressive muscle weakness and wasting. It primarily affects the muscles around the shoulders and hips, known as the limb-girdle muscles. LGMD is caused by mutations in various genes responsible for muscle structure and function.
The symptoms of LGMD typically appear in late childhood, adolescence, or adulthood. Individuals with LGMD may experience difficulty with activities that involve the use of limb-girdle muscles, such as climbing stairs, getting up from a seated position, or lifting objects. The severity and progression of the disease can vary widely between individuals, even within the same family.
There are several subtypes of LGMD, each associated with specific genetic mutations. Some subtypes may have additional features, such as heart or respiratory involvement. Diagnosis of LGMD involves a combination of clinical evaluation, genetic testing, and muscle biopsies.
While there is currently no cure for LGMD, management focuses on symptom relief, maintaining mobility, and preventing complications. This may involve physical therapy, assistive devices, respiratory support, and regular monitoring of cardiac function.