Congenital Myopathies

Congenital myopathies are a group of disorders that usually manifest at birth, but onset can be delayed. Along with proximal limb weakness, ptosis, ophthalmoparesis, joint contractures, rigid spine, and respiratory distress can occur. Nemaline myopathy, core myopathies, centronuclear/myotubular myopathy, and congenital fiber type disproportion constitute the majority of this group. Muscle biopsy plays an important role in the diagnosis and classification of congenital myopathies. Therapy is usually supportive and directed to bulbar dysfunction, respiratory distress, and joint contractures.