Fact Friday - LGMD2G

This #FactFriday, we’re breaking down the basics of Limb-girdle muscular dystrophy type 2g (LGMD2g) - a progressive, degenerative genetic disease. Cure Rare Disease is dedicated to changing the lives of people with rare diseases through customized therapies.

What is LGMD2g? LGMD2g is caused by a mutation in the TCAP gene. This gene codes for the protein telethonin, which aids in regulating the assembly of muscle cells.

How is LGMD2g acquired? LGMD2g is a genetic disorder, meaning it is inherited. The abnormal gene, TCAP, is passed down by family members who carry the mutation. The disease is autosomal recessive, which means an individual must inherit two copies of the mutated gene (one from each parent) to inherit the disorder. 

What are some of the symptoms of LGMD2g? The age of onset varies greatly: symptoms have emerged as early as infancy to as late as adolescence. Scapular winging (weakness of the muscles of the shoulder blade) and calf hypertrophy (enlargement of the calf muscle) are common symptoms. Respiratory and cardiac issues are not typically seen in this subtype. 

What is CRD doing to help LGMD2g? CRD is developing a gene replacement therapy to treat the condition in partnership with academic collaborators. 

Sources:

https://rarediseases.info.nih.gov/diseases/10471/limb-girdle-muscular-dystrophy-type-2g 

https://www.uniprot.org/uniprot/O15273