Arthrogryposis Multiplex Congenita: Diagnostic and Therapeutic Approaches

Arthrogryposis multiplex congenita (AMC) encompasses a heterogeneous group of congenital disorders characterised by non-progressive multiple joint contractures present at birth. Underlying causes range from neuromuscular dysfunction to connective-tissue abnormalities, often reflecting pathogenic variants in genes critical for muscle or nerve development. Diagnostic approaches have evolved to integrate detailed prenatal ultrasonography with comprehensive genetic testing, including targeted panels and whole-exome sequencing, facilitating early detection and molecular confirmation. Therapeutic management emphasises early, aggressive and multidisciplinary interventions: physiotherapy to preserve range of motion, orthopaedic procedures to correct deformities, and bespoke orthoses to support ambulation. Long-term follow-up into skeletal maturity informs prognostic counselling and guides ongoing rehabilitation. Together, these strategies aim to optimise functional independence, minimise secondary complications and improve quality of life for affected individuals worldwide.

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Arthrogryposis Multiplex Congenita: Diagnostic and Therapeutic Approaches publication trend

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Technical terms

Arthrogryposis multiplex congenita: A group of non-progressive congenital disorders defined by the presence of multiple joint contractures affecting two or more body regions.

Joint contracture: A permanent limitation in joint movement resulting from shortening of muscles, tendons or skin.

Prenatal ultrasonography: An imaging technique using high-frequency sound waves to visualise fetal anatomy and detect structural anomalies before birth.

Whole-exome sequencing: A genomic method that sequences all protein-coding regions of the genome to identify pathogenic variants.

Orthosis: A custom-designed external device applied to limbs or spine to support alignment, improve function or prevent deformity.

References

1. Prognostic significance of prenatal ultrasound in fetal arthrogryposis multiplex congenita. Archives of Gynecology and Obstetrics (2020).
2. Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis. Genes (2021).
3. Arthrogryposis in infancy, multidisciplinary approach: case report. BMC Pediatrics (2013).
4. Arthrogryposis multiplex congenita. Long-term follow-up from birth until skeletal maturity. Journal of Children's Orthopaedics (2009).