Evidence map›Paper›PMID 42353834›Full record

ReviewGenes2026

Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint.

Daniel Delgado Seneor, João Paulo Barile, Patrícia Marques Mendes, Marco Orsini, Eduardo Mendonça Werneck da Silva, Igor Braga Farias, Paulo de Lima Serrano, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira, Paulo Victor Sgobbi de Souza

Abstract readReview
In one paragraph

Review in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors.

Daniel Delgado SeneorDivision of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo 04039-060, SP, Brazil.
João Paulo BarileDivision of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo 04039-060, SP, Brazil.ORCID 0009-0009-8578-2788
Patrícia Marques MendesDivision of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo 04039-060, SP, Brazil.
Marco OrsiniFaculty of Medicine, Iguaçu University, Nova Iguaçu 26260-045, RJ, Brazil.ORCID 0000-0002-8526-6937
Eduardo Mendonça Werneck da SilvaDivision of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo 04039-060, SP, Brazil.
Igor Braga FariasDivision of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo 04039-060, SP, Brazil.
Paulo de Lima SerranoDivision of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo 04039-060, SP, Brazil.
Wladimir Bocca Vieira de Rezende PintoDivision of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo 04039-060, SP, Brazil.ORCID 0000-0002-0150-525X
Acary Souza Bulle OliveiraDivision of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo 04039-060, SP, Brazil.ORCID 0000-0002-6986-4937
Paulo Victor Sgobbi de SouzaDivision of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo 04039-060, SP, Brazil.ORCID 0000-0002-7416-7108

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Arthrogryposis multiplex congenita (AMC) is a diverse group of conditions characterized by multiple joint contractures. Although individually rare, these disorders are estimated to affect 1 in 3000-5000 live births. Their common pathophysiological mechanism is fetal akinesia, a sustained reduction of fetal movement that may arise from intrinsic disturbances-such as central nervous system malformations, motor neuronopathies, neuropathies, neuromuscular junction defects, congenital myopathies, muscular dystrophies, or metabolic diseases-or from extrinsic factors including uterine constraint, maternal illness, infections, or toxic exposures. Reduced fetal motion leads to relatively uniform clinical manifestations, known as the fetal akinesia deformation sequence (FADS), which is characterized by craniofacial anomalies, pulmonary hypoplasia, growth restriction, and contractures. Currently, AMC is classified by clinical features, such as distal arthrogryposis or lethal congenital contracture syndromes. However, advances in molecular genetics have shown wide variability among conditions classified into the same category. Prognosis is widely variable, ranging from lethal perinatal forms to non-progressive mild conditions. This review discusses AMC etiologies from a topographic standpoint, considering the different levels of the motor system involved, by combining current clinical, genetic, and pathophysiological information.

Indexed as

ArthrogryposisHumansarthrogryposis multiplex congenitacongenital contracturesfetal akinesia deformation sequenceneurogeneticsneuromuscular disorders

Identifiers

PMID42353834
PMCPMC13300424

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.