Limb-girdle muscular dystrophy

Limb-girdle muscular dystrophies are a group of 31 inherited diseases that cause progressive weakness and degeneration of the skeletal muscles involved in voluntary movements of the pelvic and shoulder area.

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.

Symptoms

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.

Disease management

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.

Genes analyzed

CAPN3 FKRP SGCA SGCB

Bibliography

Alonso-Pérez J, González-Quereda L, Bello L, et al . New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy. Brain. 2020 Sep 1;143(9):2696-2708.

Bartoli M, Gicquel E, Barrault L, et al . Mannosidase I inhibition rescues the human alpha-sarcoglycan R77C recurrent mutation. Hum Mol Genet. 2008 May 1;17(9):1214-21.

Brockington M, Yuva Y, Prandini P, et al . Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C. Hum Mol Genet. 2001 Dec 1;10(25):2851-9.

Cottrell CE, Mendell J, Hart-Kothari M, et al . Maternal uniparental disomy of chromosome 4 in a patient with limb-girdle muscular dystrophy 2E confirmed by SNP array technology. Clin Genet. 2012 Jun;81(6):578-83.

Georganopoulou DG, Moisiadis VG, Malik FA, et al . A Journey with LGMD: From Protein Abnormalities to Patient Impact. Protein J. 2021 Aug;40(4):466-488.

Wicklund MP. The Limb-Girdle Muscular Dystrophies. Continuum (Minneap Minn). 2019 Dec;25(6):1599-1618.

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