Arthrogryposis multiplex congenita

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A non-progressive condition present at birth consisting of multiple congential limb joint contractures and fibrosis.

  • Incidence: 1 in 3000 livebirths.
  • May be seen on antenatal ultrasound. Diagnosis is by exclusion.
  • Many subtypes have been described.
  • Life expectancy is usually normal. 50% with associated CNS abnormality die in the first year.
  • Males and females are affected equally (expect with X linked trigger conditions).
  • Surgical and multidisciplinary team involvement is essential.


Pathophysiology

This is a heterogenous group of disorders with no single specific cause. Joint development is usually initially normal, but an abnormally low level of foetal intra-uterine movement leads to the development of contractures.

As such, myopathies and neurological conditions are associated, compounding mobility issues.

Causes:

  • Foetal akinesia
    • neuromuscular or connective tissue abnormalities
    • Lack of space: olighydramnios, foetal crowding
  • Maternal disorders
    • eg infection, drugs, trauma

References

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