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Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint.
Daniel Delgado Seneor1, João Paulo Barile1, Patrícia Marques Mendes1
1Division of Neuromuscular Diseases, Department of Neurology and Neurosurgery, Federal University of São Paulo, São Paulo 04039-060, SP, Brazil.
Genes
|June 26, 2026
Summary
Arthrogryposis multiplex congenita (AMC) involves multiple joint contractures due to reduced fetal movement. This review explores AMC causes by examining different motor system levels, integrating clinical, genetic, and pathophysiological data.
Area of Science:
- Medical Genetics
- Developmental Biology
- Neurology
Background:
- Arthrogryposis multiplex congenita (AMC) presents as multiple joint contractures, affecting 1 in 3000-5000 live births.
- The common cause is fetal akinesia, a reduction in fetal movement stemming from intrinsic (e.g., CNS, neuromuscular) or extrinsic (e.g., uterine constraint) factors.
- Fetal akinesia leads to the fetal akinesia deformation sequence (FADS), characterized by craniofacial anomalies, pulmonary hypoplasia, growth restriction, and contractures.
Purpose of the Study:
- To review the etiologies of arthrogryposis multiplex congenita (AMC).
- To analyze AMC causes based on the topographic involvement of the motor system.
- To synthesize current clinical, genetic, and pathophysiological information on AMC.
Main Methods:
- Literature review of arthrogryposis multiplex congenita (AMC).
- Topographic analysis of the motor system levels implicated in AMC.
- Integration of clinical, genetic, and pathophysiological data.
Main Results:
- AMC classification is evolving beyond clinical features due to molecular genetics revealing significant variability.
- Etiologies span a range of intrinsic factors affecting the central nervous system, motor neurons, neuromuscular junction, muscles, and metabolism.
- Extrinsic factors like uterine constraint and maternal conditions also contribute to fetal akinesia.
- Prognosis for AMC is highly variable, from lethal perinatal forms to mild, non-progressive conditions.
Conclusions:
- Understanding AMC requires a comprehensive approach considering diverse etiologies and their impact on fetal development.
- A topographic perspective of the motor system aids in classifying and understanding AMC.
- Further integration of genetic and clinical data is crucial for advancing AMC research and patient care.
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