What is Bethlem Myopathy

Bethlem Myopathy is a rare genetic disorder that primarily affects the muscles and connective tissues in the body. It belongs to a group of conditions known as collagen VI-related myopathies. This condition is characterized by muscle weakness and joint stiffness, which typically appear in early childhood.

Individuals with Bethlem Myopathy may experience difficulties with walking, running, and climbing stairs due to muscle weakness. They may also have contractures, which are permanent tightening of the muscles, limiting joint movement. Additionally, some individuals may develop scoliosis, a sideways curvature of the spine.

Bethlem Myopathy is caused by mutations in the genes responsible for producing collagen VI, an essential protein that provides structure and support to muscles and connective tissues. The specific symptoms and severity of the condition can vary widely among affected individuals.

While there is currently no cure for Bethlem Myopathy, treatment focuses on managing symptoms and improving quality of life. This may involve physical therapy to maintain muscle strength and flexibility, assistive devices to aid mobility, and regular monitoring of respiratory function.