Autosomal recessive limb-girdle muscular dystrophy

Limb-girdle muscular dystrophies (LGMD) include more than a dozen inherited conditions characterized by progressive loss of muscle mass and symmetrical weakening of voluntary muscles, mainly those of the shoulders and around the hips. These pathologies are caused by mutations in several genes involved in the structural maintenance of muscle cells.

LGMD are currently classified into 31 subtypes according to the mode of inheritance, the protein affected and the order in which they were discovered. The most common forms are those that are inherited recessively, begin in childhood or adolescence and show dramatically increased levels of serum creatine kinase. Dominant LGMDs, on the other hand, usually develop in adulthood.

The prevalence of LGMD is estimated to be between 2.27 and 10 cases per 100,000 individuals.

Muscular dystrophies vary in age of onset, severity, and pattern of affected muscles depending on which gene is involved. All forms of muscular dystrophy worsen as the muscles progressively degenerate and weaken.

Some subtypes of LGMD progress rapidly, causing severe muscle damage and loss of the ability to walk, while others have a slow, multi-year course and are not as disabling. Some patients may experience respiratory complications and cardiomyopathy.

There is no treatment for LGMD. The management of the pathology will depend on the subtype of dystrophy presented by the patient and will be focused on improving the patient's quality of life. In general, it will require a multidisciplinary team of specialists in neuromuscular diseases, physiotherapy, orthopedics and cardiological and pulmonary follow-up.