dystroglycanrelated

Dystroglycan is a key component of the dystrophin-glycoprotein complex, a crucial structural and signaling system that links the muscle cell cytoskeleton to the extracellular matrix. Mutations in genes encoding dystroglycan or proteins that modify it, such as those involved in glycosylation, can lead to a group of inherited disorders collectively referred to as dystroglycanopathies. These conditions are characterized by severe muscle weakness and damage.

The most common and severe forms of dystroglycanopathies are congenital muscular dystrophies, which manifest at birth or in early infancy. Symptoms include profound muscle weakness, joint contractures, and often intellectual disability, as dystroglycan also plays a role in brain development. Other related disorders can present with later onset muscle weakness, varying in severity.

Diagnosis typically involves clinical assessment, muscle biopsy to examine protein expression and structure, and genetic testing to identify mutations in the relevant genes. There is currently no cure for dystroglycanopathies, and management focuses on supportive care, including physical therapy and respiratory support. Research into gene therapy and other therapeutic approaches is ongoing.