What is Arthrogryposis?

Arthrogryposis multiplex congenita is an umbrella term that describes up to 150 different conditions. The name describes the presence of multiple joint contractures at birth. A contracture is a limitation in the range of motion of a joint. It is a non-progressive disorder, meaning children do not get worse over time. The condition is relatively rare, occurring from around one in 3,000 births.

A painting called The Clubfoot, c.1650, is probably the first recorded case of arthrogryposis; the model had the physical characteristics of someone with amyoplasia, the most common form of arthrogryposis.

What we know about arthrogryposis

  • Arthrogryposis occurs while in the womb as a result of decreased fetal movements.
  • Risk factors for the unborn baby include mother having multiple sclerosis, myasthenia gravis or myotonic dystrophy, maternal infection, trauma or exposure to prescriptive drugs that may reduce fetal movements (e.g. phenytoin for epilepsy).
  • CNS and spinal cord malformation during gestation contribute to arthrogryposis risk.
  • 30% of arthrogryposis cases have an underlying genetic cause.
  • Arthrogryposis can be detected by ultrasound.
  • Depending on the extent and severity of arthrogryposis, physiotherapy may be initiated early to improve movements of joints and avoid muscle atrophy.
  • Arthrogryposis affects the joints and other aspects of physical development. It has no effect on mental development.
  • Our young people affected by arthrogryposis can go on to lead productive lives.

From the eMedicine entry on Arthrogryposis by Harold Chen:

“During early embryogenesis, joint development is almost always normal. Motion is essential for the normal development of joints and their contiguous structures; lack of fetal movement causes extra connective tissue to develop around the joint. This results in fixation of the joint, limiting movement and further aggravating the joint contracture. Contractures secondary to fetal akinesia (decreased fetal movement) are more severe in patients in whom the diagnosis is made early in pregnancy and in those who experience akinesia for longer periods of time during gestation.”

Treatment for Arthrogryposis

  • No specific treatment is available.
  • Physiotherapy from an early age is highly beneficial to increase mobility around the joints. Speech therapy (if the jaw is affected) and occupational therapy (when hands or upper limbs are affected) may also be required.
  • Swimming is beneficial.

When considering surgical options

Surgical correction for arthrogryposis requires different treatment approaches than other orthopaedic corrections. It is very important that your specialist has considered the diagnosis of arthrogryposis prior to surgery in order to prevent unnecessary and inappropriate procedures from being performed.