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Arthrogryposis

What Is Arthrogryposis?

Arthrogryposis (ar-thro-grih-POE-sis) refers to a broad group of conditions that result in stiffness or loss of motion of multiple joints. This joint stiffness or contracture (kun-TRAK-cher) can happen in any joint in the body.

It may involve just the upper extremities (arms) or just the lower extremities (legs) or the entire body. Distal arthrogryposis may involve only the hands and feet. Contracture in just one joint (such as a clubfoot) is usually not considered to be arthrogryposis.

Most forms of arthrogryposis cannot be cured. However, splinting, bracing, occupational therapy, and physical therapy, and orthopedic surgery can help to maintain and maximize range of motion and function.

What Are the Signs & Symptoms of Arthrogryposis?

Contractures may keep the joints in:

  • an extended (straight) position
  • a flexed (bent) position

A baby with arthrogryposis may have a few or many affected joints affected. Contractures may be mild or severe.

Children with arthrogryposis may have:

  • trouble moving
  • poor growth
  • weak muscles
  • very thin or bony-looking arms and legs

What Causes Arthrogryposis?

The cause of most types of arthrogryposis isn't fully understood.

Some types are the result of specific diseases of the nerves or muscles. Arthrogryposis may also be related to the fetus not moving much during pregnancy. This is called akinesia (ay-kigh-NEE-zhee-uh).

Amyoplasia (ay-my-oh-plaze-ya) is a type of arthrogryposis that refers to a specific pattern of joint involvement.

Sometimes doctors find a genetic cause (a problem caused by changes in the baby's DNA). If a genetic cause is found, other family members may be more likely to have a similar problem.

Arthrogryposis can also be part of other medical conditions or syndromes.

How Is Arthrogryposis Diagnosed?

Arthrogryposis refers to any condition in which there are multiple stiff joints at birth. There is no specific test for arthrogryposis. The doctor will do a physical exam and check nerves and muscles to look for a cause of the arthrogryposis and plan treatment.

Doctors can sometimes diagnosis arthrogryposis on a prenatal ultrasound if they see unusual joint positioning (such as clubfoot).

The doctor may order tests such as:

  • X-rays or other imaging studies
  • blood tests
  • rarely nerve conduction studies (NCS) and electromyography (EMG)
  • rarely, a muscle or nerve biopsy

How Is Arthrogryposis Treated?

Specialists in orthopedic surgery, rehabilitation medicine, physical therapy, and occupational therapy usually treat arthrogryposis as a team. Other specialists may be involved depending on what caused the arthrogryposis.

Treatment often includes:

  • bracing and orthotics for joint support
  • exercises and stretching to increase strength and flexibility
  • splints and casts to improve joint positioning and motion
  • surgery to reposition bones or move tendons (the cords that connect muscles to the bones)

What Can I Expect?

Some children with arthrogryposis are very functional and independent. Others will need more help with daily activities. All children with arthrogryposis benefit from a team of specialists with experience in this condition and a child's abilities can improve a lot with treatment. Help your child with the exercises recommended by therapists, and follow up with specialists as instructed.

Most kids with arthrogryposis have the same thinking ability as other kids their age, and can lead independent lives as adults.

If there's a genetic cause of your child's arthrogryposis, ask the doctor if your family should see a genetic counselor. This can help you find out if future children in the family would have a higher risk of arthrogryposis.

Reviewed by: Jennifer M. Ty, MD
Date reviewed: August 2018