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Arthrogryposis Multiplex Congenita

By

Simeon A. Boyadjiev Boyd

, MD, University of California, Davis

Last full review/revision Sep 2022| Content last modified Sep 2022
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Arthrogryposis multiplex congenita refers to a group of rare disorders that develop in the womb and cause many joints to become "frozen" in position.

Causes of Arthrogryposis Multiplex Congenita

Symptoms of Arthrogryposis Multiplex Congenita

In infants with arthrogryposis multiplex congenita, a number of joints become curved and frozen and consequently cannot bend. The muscles attached to the frozen joints are usually weak and poorly developed. Decreased movement of the baby's muscles and joints while in the womb likely cause the decreased movement of the joints after birth. Sometimes the nerves that would normally move the bones in the affected joints are also impaired. Infants with arthrogryposis may also have dislocated hips, knees, or elbows.

Diagnosis of Arthrogryposis Multiplex Congenita

  • A doctor's evaluation

  • Genetic testing

After birth, doctors do a physical examination and note the baby's frozen joints and limbs. A baby who has these birth defects may be evaluated by a geneticist. A geneticist is a doctor who specializes in genetics (the science of genes and how certain qualities or traits are passed from parents to offspring). Genetic testing of a sample of the baby's blood may be done to look for chromosome and gene abnormalities. This testing can help doctors determine whether a specific genetic disorder is the cause and rule out other causes.

Tests of the muscles, such as a muscle biopsy (removal of a sample of muscle for examination) and electromyography Electromyography and Nerve Conduction Studies Diagnostic procedures may be needed to confirm a diagnosis suggested by the medical history and neurologic examination. Electroencephalography (EEG) is a simple, painless procedure in which... read more Electromyography and Nerve Conduction Studies (EMG), may be done to help doctors distinguish between various types of arthrogryposis.

Prognosis for Arthrogryposis Multiplex Congenita

Babies born with arthrogryposis typically develop relatively normal intelligence, except when the arthrogryposis is caused by a disorder or syndrome that also affects intelligence.

Doctors seek to establish a specific diagnosis for what has caused the arthrogryposis so that parents know what the prognosis is and can receive genetic counseling.

Many children do remarkably well. About two thirds of affected children are able to walk after treatment.

Treatment of Arthrogryposis Multiplex Congenita

  • Casts and physical therapy

  • Sometimes surgery

Surgery may be needed to free the bones from attached tissue in order to have more normal joint movement. Surgically moving a muscle (for example, moving the triceps muscle so that it can flex rather than extend the elbow) may improve function.

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