Epidemiology, aetiology, interventions and genomics in children with arthrogryposis multiplex congenita: protocol for a multisite registry.

ABSTRACT:

Introduction

Arthrogryposis multiplex congenita (AMC) is an umbrella term including hundreds of conditions with the common clinical manifestation of multiple congenital contractures. AMC affects 1 in 3000 live births and is caused by lack of movement in utero. To understand the long-term needs of individuals diagnosed with a rare condition, it is essential to know the prevalence, aetiology and functional outcomes in a large sample. The development and implementation of a multicentre registry is critical to gather this data. This registry aims to improve health through genetic and outcomes research, and ultimately identify new therapeutic targets and diagnostics for treating children with AMC.

Methods and analysis

Participants for the AMC registry will be recruited from seven

SUBMITTER: Dahan-Oliel N 

PROVIDER: S-EPMC9621187 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature