Congenital Muscular Dystrophy with Rigid Spine

Abstract

Rigid spine syndrome is characterized by marked limitation in flexion of the dorsolumbar and cervical spine, which is due to contracture of the spinal extensors and leading to loss of movement of the spine and the thoracic cage. Limitation of other joints may be associated, especially of the elbows and the ankles. The condition is not progressive, but the development of scoliosis and associated deformities often leads to respiratory failure. Several patients have been reported with muscular dystrophy associated with rigid spine, in whom the muscle weakness was either congenital or with adult onset. Muscle biopsy may present with dystrophic changes and a variety of abnormal structural features such as cytoplasmic bodies, hyaline bodies, and areas of sarcomere disorganization with streaming of Z-line on ultrastructural analysis.

Genetic analysis identified mutations in the SEPN1 gene, encoding selenoprotein-N-1, a glycoprotein localized within the endoplasmic reticulum, with a suggested role in early development and in muscle cell proliferation or regeneration.