Arthrogryposis multiplex congenita
Other Names for this Disease
- Congenital arthromyodysplasia
- Congenital multiple arthrogryposis
- Fibrous ankylosis of multiple joints
- Guerin-Stern syndrome
What are the signs and symptoms of arthrogryposis multiplex congenita?
What causes arthrogryposis multiplex congenita?
Is arthrogryposis multiplex congenita inherited?
Is genetic testing available for arthrogryposis?
How might arthrogryposis multiplex congenita be treated?
The signs and symptoms associated with arthrogryposis multiplex congenita (AMC) can vary greatly in range and severity among affected individuals. The condition is always present at birth (congenital) but does not get worse over time (it is not progressive). In some cases, few joints maybe affected and the range of motion may be nearly normal. In most cases the hands, wrists, elbows, shoulders, hips, feet, and knees are affected. In the most severe cases, nearly every joint in the body may be involved, including those of the jaw and back. The joint contractures are often accompanied by muscle weakness, which may further limit movement.
The exact cause of arthrogryposis multiplex congenita (AMC) is not fully understood. The most common cause of AMC is believed to be decreased fetal movement, which in itself can have multiple causes. When a joint is not moved for a period of time, extra connective tissue often grows around it, fixing it in position. Lack of joint movement also means that tendons connecting to the joint are not stretched to their normal length; short tendons, in turn, make normal joint movement difficult.
In general, there are four causes for limitation of joint movement before birth:
Malformations of the central nervous system and/or spinal cord. In these cases, arthrogryposis is usually accompanied by a wide range of other symptoms.
Tendons, bones, joints or joint linings may develop abnormally. For example, tendons may not be connected to the proper place in a joint.
AMC may also occur as part of certain genetic disorders that can be inherited as autosomal recessive, autosomal dominant or X-linked traits. It may also occur as part of chromosome disorders (for example, trisomy 18).
For most types of arthrogryposis, physical and occupational therapy has proven very beneficial in improving muscle strength and function and increasing the range of motion of affected joints. 
Some patients, however, have persistent functional difficulties despite a rigorous physical therapy regimen. In certain situations, surgery is recommended to improve limb position and function. These procedures may include muscle releases, tendon transfers, or bony fusions. 
While improvements can be made, most patients will have persistent muscular and/or joint limitations due to the underlying condition. 
- Chen H. Arthrogryposis. eMedicine. August 8, 2007; http://www.emedicine.com/ped/TOPIC142.HTM. Accessed 2/2/2009.
- Arthrogryposis Multiplex Congenita. NORD. June 21, 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/211/viewAbstract. Accessed 6/12/2012.
- Arthrogryposis: What it is and how it is treated. A National Support Group for Arthrogryposis Multiplex Congenita (AVENUES). http://www.avenuesforamc.com/publications/pamphlet.htm. Accessed 10/15/2013.
- My Child Has...Arthrogryposis. Children's Hospital Boston. 2007; http://www.childrenshospital.org/az/Site594/mainpageS594P0.html. Accessed 2/2/2009.