Clinical Evaluation of Children with Arthrogryposis Multiplex Congenital in Pakistani Population

Abstract

Background: Arthrogryposis multiplex congenita (AMC) is a rare syndrome with multiple joint contractures. The number of studies which have been previously done on Pakistani population to investigate patients with arthrogryposis is limited. Aim: This study presents our experience with evaluation and management of children with AMC at The Children Hospital & the Institute of Child Health, Lahore. Method: During the period from January 2018 to December 2018, we evaluated 25 children with AMC. The mean age at the time of evaluation was 20.56 months (range, 5 days to 9 years). All of the included patients were evaluated in terms of their clinical state according to selected subjective and objective criteria. Result: Our results indicate that shoulders were internally rotated (20%), the elbows were extended (36%), and the wrists (76%) and digits (56%) were flexed. Thumb was adducted (36%), hands were clawed (52%) and palmar crease was absent (28%). Hips were found to be dislocated (16%) and adducted (16%). Knees having extension contracture (32%); feet were in equinocavovarus (72%). Calf muscles were atrophic (56%). Conclusion: Our experience shows that the clinical findings are highly variable between families and also within families with AMC. Joint manipulation and casting during the first few months of life may produce considerable improvement. Orthotics may help. Surgery may be needed later, but mobility is rarely enhanced. Muscle transfers may improve function. Many children do remarkably well; two thirds are ambulatory after treatment. A multidisciplinary team evaluation of the child with AMC is recommended for specific diagnosis and planning of treatment. Keywords: Arthrogryposis multiplex congenita (AMC), clinical evaluation