A Case of Distal Arthrogryposis Combined with Scoliosis / 罕见病研究

ABSTRACT

Distal arthrogryposis is a rare disease caused by mutations in genes encoding proteins involved in muscle fiber contraction. Its joint contracture mainly involves distal joint contracture, and scoliosis is often accompanied by pelvic tilt and abnormal lordosis.This article reviewed the clinical characteristics of a patient with distal arthrogryposis combined with scoliosis. The patient was a 14-year-old male. His back was found that uneven 6 years ago for no obvious reason, and his scoliosis was gradually worsened. The patient had flexion contractures of both hands and bilateral knees since childhood, and no special treatment was given. There was no obvious restriction in the movement of the spine, the thoracic segment was convex on the right side, and the lumbar segment was convex on the left side. The genetic diagnosis was MYL11 gene mutation, which was consistent with the clinical manifestations of distal arthrogryposis combined with scoliosis. Posterior scoliosis correction and growing rod placement were performed electively. The operation went smoothly and the trunk balance was satisfactory. The clinical characteristics of this disease are summarized to improve our understanding of the disease.