Arthrogrypose

Arthrogryposis is a congenital disease that results in stiffness in the joints. The range of motion is therefore limited. Joint contractures associated with this disease develop in utero and symptoms are present from birth.

All joints can be affected or only some: limbs, thorax, spine or temporomaxillary (jaws).

Prenatal diagnosis is difficult. It can be done when the mother feels a decrease in fetal movement. The diagnosis is made at birth after clinical observations and x-rays. 

The causes of arthrogryposis are currently unknown.

Arthrogryposis, what is it?

Arthrogryposis is a congenital disease that results in stiffness in the joints. The range of motion is therefore limited. Joint contractures associated with this disease develop in utero and symptoms are present from birth.

All joints can be affected or only some: limbs, thorax, spine or temporomaxillary (jaws).

Prenatal diagnosis is difficult. It can be done when the mother feels a decrease in fetal movement. The diagnosis is made at birth after clinical observations and x-rays. 

The causes of arthrogryposis are currently unknown.

Symptoms of arthrogryposis

We can distinguish several forms of arthrogryposis:

Arthrogryposis Multiple Congenital (MCA)

It is the most frequently encountered form, on the order of three births per 10. 

It affects all four limbs in 45% of cases, only the lower limbs in 45% of cases and only the upper limbs in 10% of cases.

In most cases the joints are affected symmetrically.

About 10% of patients have abdominal abnormalities due to abnormal muscle formation.

Other arthrogryposes

Many fetal conditions, genetic or malformative syndromes are responsible for joint stiffness. Most often there are abnormalities of the brain, spinal cord and viscera. Some lead to a significant loss of autonomy and are life-threatening. 

  • Hecht syndrome or trismus-pseudo camptodactyly: it associates difficulty in opening the mouth, a defect in extension of the fingers and wrist and equine or convex varus club feet. 
  • Freeman-Shedon or cranio-carpo-tarsal syndrome, also known as the whistling baby: we observe a characteristic facies with a small mouth, a small nose, undeveloped wings of the nose and an epicanthus (fold of the skin in the shape of a half-moon at the inner corner of the eye).
  • Moebius syndrome: it includes clubfoot, deformity of the fingers, and bilateral facial paralysis.

Treatments for arthrogryposis

The treatments do not aim to cure the symptom but to give the best possible joint activity. They depend on the type and degree of arthrogryposis. Depending on the case, it may be recommended:

  • Functional rehabilitation to correct deformities. The earlier the rehabilitation, the less movement will be limited.
  • Physiotherapy.
  • A surgical operation: mainly in the case of club foot, dislocated hip, correction of the axis of a limb, lengthening of the tendons or muscle transfers.
  • The use of an orthopedic corset in the case of deformity of the spine.

The practice of sport is not prohibited and should be chosen according to the capacity of the patient.

Evolution of arthrogryposis

Joint stiffness does not get worse after birth. However, during growth, non-use of limbs or heavy weight gain can lead to significant orthopedic deformity.

Muscle strength is only developed very little. It is therefore possible that it is no longer sufficient on certain limbs for an adult patient.

This syndrome can be particularly disabling in two cases:

  • When the attack of the lower limbs requiring a device to stand upright. This requires that the person be able to put it alone in order to be autonomous and therefore to have an almost normal use of his upper limbs. This use must also be complete if, to move around, the help of canes is necessary.
  • When the achievement of the four limbs requires the use of an electric wheelchair and the use of a third person.

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