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Original research
Diagnostic workup in children with arthrogryposis: description of practices from a single reference centre, comparison with literature and suggestion of recommendations
  1. Pauline Le Tanno1,
  2. Xenia Latypova2,
  3. John Rendu2,
  4. Julien Fauré2,
  5. Véronique Bourg3,
  6. Marjolaine Gauthier4,
  7. Gipsy Billy-Lopez4,
  8. Pierre-Simon Jouk4,
  9. Klaus Dieterich1
  1. 1Univ. Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Institut of Advanced Biosciences, 38000 Grenoble, France
  2. 2Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institute of Neurosciences, 38000 Grenoble, France
  3. 3Service de Médecine Physique et Réhabilitation pédiatrique, CHU Grenoble Alpes, 38000 Grenoble, France
  4. 4Service de Génétique, Génomique et Procréation, CHU Grenoble Alpes, 38000 Grenoble, France
  1. Correspondence to Dr Klaus Dieterich, Univ. Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, Institut of Advanced Biosciences, Grenoble, France; KDieterich{at}chu-grenoble.fr

Abstract

Introduction Arthrogryposis multiplex congenita (AMC) refers to a clinical presentation of congenital contractures involving two or more body areas. More than 400 distinct conditions may lead to AMC, making the aetiological diagnosis challenging. The objective of this work was to set up evidence-based recommendations for the diagnosis of AMC by taking advantage of both data from our nation-wide cohort of children with AMC and from the literature.

Material and methods We conducted a retrospective single-centre observational study. Patients had been evaluated at least once at a paediatric age in the AMC clinic of Grenoble University Hospital between 2007 and 2019. After gathering data about their diagnostic procedure, a literature review was performed for each paraclinical investigation to discuss their relevance.

Results One hundred and twenty-five patients were included, 43% had Amyoplasia, 27% had distal arthrogryposis and 30% had other forms. A definitive aetiological diagnosis was available for 66% of cases. We recommend a two-time diagnostic process: first, non-invasive investigations that aim at classifying patients into one of the three groups, and second, selected investigations targeting a subset of patients.

Conclusion The aetiological management for patients with AMC remains arduous. This process will be facilitated by the increasing use of next-generation sequencing combined with detailed phenotyping. Invasive investigations should be avoided because of their limited yield.

  • diagnosis
  • pediatrics
  • genetics
  • medical
  • neuromuscular diseases
  • arthrogryposis multiplex congenita
  • amyoplasia

Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information. All data considered as mandatory for the understanding of our manuscript are included in the article or available in the supplementary tables. Additional data may be obtained on request.

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Data availability statement

All data relevant to the study are included in the article or uploaded as supplementary information. All data considered as mandatory for the understanding of our manuscript are included in the article or available in the supplementary tables. Additional data may be obtained on request.

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Footnotes

  • Contributors Guarantor: KD. Conceptualisation: PLT, KD. Data curation: PLT, KD. Formal analysis: PLT, KD. Funding acquisition: KD. Investigation: PLT. Project administration: KD, PSJ. Resources: VB, GM, GB, JR, XL, JF. Supervision: KD. Validation: P-SJ. Visualisation: PLT, KD. Writing-original draft: PLT, KD. Writing-review and editing: VB, MG, GB-L, JR, XL, JF, P-SJ.

  • Funding This work was financially supported by the Reference Centre for Congenital Anomalies/Arthrogryposis of Grenoble-Alpes University Hospital, the Direction de la Recherche Clinique et de l’Innovation of Grenoble-Alpes University Hospital (grant to KD, Paediatric and Adult Registry on ARThrogryposis PARART project) and Grenoble-Alpes University.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.