Spinal Involvement in a Pediatric and Adult Cohort of Patients With Arthrogryposis Multiplex Congenita

This was a single-center retrospective observational study with national recruitment from October 2007 to March 2022 at the AMC clinic of the University Hospital Grenoble Alpes (CHUGA). Participants underwent a clinical spinal assessment and spine radiography. Our main objective was to analyze the type of spinal involvement within each AMC subgroup. We hypothesized that there was a difference in the prevalence of scoliosis between subgroups. Arthrogryposis multiplex congenita (AMC) is classified into three subgroups (amyoplasia, distal arthrogryposis [DA], "other causes") according to their phenotype and underlying etiologies. We carried out comparative statistical analyses between AMC subgroups within two separate series: children and adults. Our outcome measures were the presence of scoliosis, Cobb angles, and underlying spinal abnormalities. In total, 203 participants were selected; 57 were excluded due to lack of spine film. We then performed a statistical analysis of 146 individuals (101 children, 45 adults). We found an overall prevalence of scoliosis of 46% in children and 78% in adults and an overall prevalence of underlying spinal anomalies of 41% in children and 53% in adults. There was a difference in the prevalence of scoliosis between the three AMC subgroups in children (χ² = 6.8, p = 0.033, v = 0.18). The prevalence of scoliosis was higher in the DA group (47% in children and 78% in adults) and in the group "other causes" (65% in children) compared to the amyoplasia group (33% in children and 75% in adults). Cobb angles were greater and spinal abnormalities more prevalent in the DA group than in amyoplasia and "other causes" groups. Our data confirm the significant difference in the prevalence of scoliosis between AMC subgroups in children. The high prevalence of scoliosis and spinal abnormalities in all AMC subgroups justifies screening by clinical examination and systematic frontal and sagittal spine x-rays during childhood.