Limb-girdle muscular dystrophy, type 2C

Limb-girdle muscular dystrophy type 2C (LGMD2C) is a genetic condition that affects the voluntary muscles around the hips and shoulders. This condition belongs to a group of muscle disorders called limb-girdle muscular dystrophies, which are characterized by progressive loss of muscle bulk and symmetrical weakening of voluntary muscles. Symptoms of LGMD2C usually appear around 6-8 years of age, may be mild or severe, and can progress to loss of the ability to walk by 12-16 years. Symptoms may additionally include: enlargement (hypertrophy) of the calf muscle and tongue, diseases of the heart muscle (cardiomyopathy), and respiratory abnormalities.^[1][2] LGMD2C is caused by mutations in the SGCG gene and is inherited in an autosomal recessive manner.^[3] Although there is no specific treatment or cure for LGMD2C, there are ways to manage the symptoms. A team of doctors or specialists is often needed to figure out the treatment options for each person.^[1]

There is no specific treatment for LGMD2C. Management of the condition is based on each person's symptoms and may include:^[4]

• Weight control to avoid obesity
• Physical therapy and stretching exercises to promote mobility and prevent contractures
• Use of mechanical aids such as canes, walkers, orthotics, and wheelchairs as needed to help ambulation and mobility
• Monitoring and surgical intervention as needed for orthopedic complications such as foot deformity and scoliosis
• Monitoring of respiratory function and use of respiratory aids when indicated
• Monitoring for evidence of diseases of the heart muscle (cardiomyopathy)
• Social and emotional support and stimulation to maximize a sense of social involvement and productivity and to reduce the sense of social isolation common in these disorders