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The EXPLAIN study: Exploring Arthrogryposis Multiplex Congentica in adults in Norway

Project leader

Lena Lande Wekre, MD, PhD, Senior Consultant at Norwegian Centre for for Rare Disorders, unit Sunnaas.

Abstract

Arthrogryposis Multiplex Congenita, AMC, is a descriptive term for the presence of multiple joint-contractures in two or more body areas at birth1. Several hundred conditions, from well-defined syndromes to non-specific combinations of contractures, are described to have AMC as a clinical sign. However, these conditions vary widely in terms of genetic origin, pathophysiology and clinical presentation.  
 
Children with AMC usually receive a close, clinical follow-up with extensive orthopedic surgery, manipulation of joints, physiotherapy and occupational therapy. However, the follow-up becomes considerably less with age. This is probably related to the lack of knowledge about aetiology, function and needs of adults with AMC. Our group recently performed a scoping review revealing knowledge gaps related to ageing and implications on daily life, but also regarding the etiological causes behind AMC. 
 
The overarching aim of this project is to gain new insights into the phenotype - genotype connection of AMC. Further, we will close important knowledge gaps about the implications of the disease on daily life of adults. We will invite all patients registrered at the Norwegian Center for Rare Diseases to take part in the study, which will perform extensive examinations based on the unique combined competence of the multidisciplinary team.  

Project leader, main supervisor

Lena Lande Wekre, MD, PhD, Senior Consultant, Norwegian Centre for for Rare Disorders, unit Sunnaas.

Co-supervisor, investigator neurophysiology

Kristin Ørstavik, MD, PhD, Senior Consultant in Neurology and Clinical Neurophysiology and Section leader, Unit for Congenital and Hereditary Neuromuscular Disorders (EMAN) and Section for rare neuromuscular disorders, Department of Neurology, OUH.

Co-supervisor and contact to the University of Oslo

Mathias Toft, MD, PhD, Professor, Head of Department of Neurology, Department of Neurology, OUH.

Supervisor in genetics, investigator genetic analyses

Inger-Lise Mero, MD, PhD, Clinical Geneticist, Senior Consultant, Department of Medical Genetics, OUH.

Investigator of genetic analyses

Magnus D. Vigeland, Post Doc, Mathematician, Research Department of Medical Genetics, OUH.

Carry out the clinical investigations

My Vuong Hermansen, MD, Senior Consultant in Neurology, PhD student, Norwegian Centre for for Rare Disorders, unit Sunnaas. and Department of Neurology, OUH  

Tests: Mapping of ADL and grip strength

Unni Steen, Senior occupational therapist, MSc, Norwegian Centre for for Rare Disorders, unit Sunnaas.

Tests: Mapping of function

Physiotherapist, Norwegian Centre for for Rare Disorders, unit Sunnaas.

Supervisor of statistics 

Not decided

Patient representative 

Monica Haugen, Experience expert, president, The Norwegian Patient Association for AMC 

 

Ethical approvals

REK nr. 374656 
SIKT nr. 522592

Funding

The project has received economical support from The Norwegian Cente for Rare Diseases, and its unit at Sunnaas Hospital to carry out a scoping review article on AMC, in order to be able to identify knowledge gaps and prepare the protocol for this project. 
External funding from HSØ granted from 2024.

Time period  

2021-January 2023: Carried out the scoping article and prepared the protocol 
Autumn 2023-spring 2027: Execute the actual project 

Our new name is Norwegian Centre for Rare Diseases, unit Sunnaas

TRS National Resource Centre for Rare Disorders has changed name!

Our new name is: Norwegian Centre for Rare Diseases, unit Sunnaas

You can read more about the name change here
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Last updated 9/8/2025