Limb girdle muscular dystrophy (LGMD) encompasses a number of different inherited muscular dystrophies that are grouped under the label “limb girdle” because they generally affect the pelvic and shoulder girdles. To date, over 20 different types of LGMDs have been identified, each one caused by mutations in a different gene.
Limb Girdle Muscular Dystrophy 2I (LGMD2I) belongs to a group of rare muscular dystrophies named dystroglycanopathies and is caused by mutations in the Fukutin-Related Protein gene (FKRP). FKRP is one of the genes involved in the processing of a protein called α-dystroglycan that is present in the membrane of muscle cells. When FKRP is mutated, α-dystroglycan will not function properly, causing muscle weakness.
Disease presentation can range from a severe muscular dystrophy with onset in childhood (similar to Duchenne Muscular Dystrophy), to a milder adult disease. It affects voluntary muscles, mainly around the pelvic (hip) and shoulder regions. Respiratory complications and cardiomyopathy are common clinical features in LGMD2I patients.
For more detailed information about Limb Girdle Muscular Dystrophy 2I, visit the following sites:
- LGMD2I website: