Why Does Myofibrillar Myopathy Happen?

Gene mutations that cause myofibrillar myopathy disrupt the function of skeletal and cardiac muscle. Various muscle proteins form clumps (aggregates) in the muscle fibers of affected individuals. The aggregates prevent these proteins from functioning normally, which reduces linking between neighboring sarcomeres.

What causes proximal myopathy?

Proximal myopathy presents as symmetrical weakness of proximal upper and/or lower limbs. There is a broad range of underlying causes including drugs, alcohol, thyroid disease, osteomalacia, idiopathic inflammatory myopathies (IIM), hereditary myopathies, malignancy, infections and sarcoidosis.

How is myopathy inherited?

Inherited myopathies are caused by mutations, or changes, in genes — the blueprints for making proteins that are necessary for our bodies to function correctly.