Spinal Deformity in Bethlem Myopathy

Study DesignRetrospective review.ObjectivesTo report the characteristics of spinal deformity in a series of 3 patients with Bethlem myopathy.Summary of Background DataBethlem myopathy presents with mild muscular weakness and typically has a benign course. Severe scoliosis in patients affected with Bethlem myopathy has not been previously reported.MethodsClinical records of 3 brothers with Bethlem myopathy were reviewed. Clinical and radiographic features of the spinal deformity are presented.ResultsAll 3 patients had progressive scoliosis with coronal and sagittal imbalance. At a minimum of 26 months of follow-up after posterior instrumented fusion, there were no complications and deformity correction was maintained. Posterior instrumentation and fusion did not negatively affect the pulmonary function in this group of patients with Bethlem myopathy.ConclusionsBethlem myopathy may present with severe scoliosis along with proximal muscle weakness. This condition should be included in the differential diagnosis of adolescent patients with progressive spinal deformity.