Collagen VI-related myopathy with scoliosis alone: A case report and literature review.

ABSTRACT:

Background

Scoliosis is a complex three-dimensional deformity of spine and one of the common complications of collagen VI-related myopathy, caused by mutations in collagen type VI alpha 1 chain (COL6A1), COL6A2, and COL6A3 genes. The typical clinical presentations of collagen VI-related myopathy include weakness, hypotonia, laxity of distal joints, contractures of proximal joints, and skeletal deformities.

Case summary

A 28-year-old female presented with scoliosis for 28 years without weakness, hypotonia, laxity of distal joints, and contracture of proximal joints. Computed tomography and magnetic resonance imaging revealed hemivertebra, butterfly vertebra, and the missing vertebral space. Patients underwent orthopedic surgery and paravertebral mu

SUBMITTER: Li JY 

PROVIDER: S-EPMC8283577 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature