What is LGMD2I/R9?

Limb-girdle muscular dystrophy type 2I/R9 (LGMD2I/R9) is a rare, recessive genetic condition caused by variants in the fukutin-related protein (FKRP) gene.^2,3 This gene encodes FKRP, an enzyme involved in a chemical process called glycosylation, during which sugar molecules are attached to proteins. This chain of sugars, known as a glycan chain, allows a critical stabilizer of the muscle cell membrane, alpha-dystroglycan, to function correctly.³

In people with LGMD2I/R9, FKRP does not function at full capacity, leading to instability and injury of muscle cells. Physical symptoms of LGMD2I/R9 typically include loss of muscle mass and muscle wasting, leading to muscle weakness in the legs, arms, and trunk.^2–4 At later stages, respiratory and cardiac muscles may also grow weak, which can cause respiratory and cardiac complications and eventually, loss of functional independence.^2,4 Genetic testing is the only way to confirm a diagnosis of LGMD2I/R9.²

Genetic testing is the only way to confirm a diagnosis of LGMD2I/R9.² Accurate diagnosis may open new avenues for medical management, including participation in clinical research studies and providing vital information to ensure appropriate care. Speak to your healthcare provider for information on genetic testing for LGMD2I/R9. For additional information on genetic testing resources, visit the Lantern Project, Detect Muscular Dystrophy, LGMD2I/R9 Research Fund, or knowlgmd.com.