Arthrogryposis multiplex congenita
- Congenital multiple arthrogryposis
- Fibrous ankylosis of multiple joints
- Congenital arthromyodysplasia
- Myodystrophia fetalis deformans
Your QuestionMy daughter was born with Guérin-Stern syndrome, now more commonly known as arthrogryposis multiplex congenita or arthrogryposis. I would like information about this condition, as well as resources for group discussions, medical research, and specialists in the field.
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Questions on this page
- What is arthrogryposis multiplex congenita?
- What are the signs and symptoms of arthrogryposis multiplex congenita?
- What causes arthrogryposis multiplex congenita?
- Is arthrogryposis multiplex congenita inherited?
- How might arthrogryposis multiplex congenita be treated?
- What is the long-term outlook for people with arthrogryposis multiplex congenita?
- How can I find physicians who specialize in arthrogryposis multiplex congenita?
- Where can I connect with other people who have family members with arthrogryposis multiplex congenita?
AMC is not a specific diagnosis, but rather a physical symptom that can be found in many different medical conditions. The signs and symptoms associated with AMC can, therefore, vary greatly in range and severity depending on the underlying condition.
The exact cause of arthrogryposis multiplex congenita (AMC) is not fully understood. AMC is thought to be related to decreased fetal movement during development, which can occur for a variety of reasons. When a joint is not moved for a period of time, extra connective tissue may grow around it, fixing it in place. Lack of joint movement also means that tendons connected to the joint are not stretched to their normal length, which can make normal joint movement difficult.
In general, there are four causes for decreased fetal movement before birth:
- Abnormal development of muscles. In most cases, the specific cause for this cannot be identified. Suspected causes include muscle diseases, maternal fever during pregnancy, and viruses which may damage the cells that transmit nerve impulses to the muscles.
- Insufficient room in the uterus for normal movement. For example, multiple fetuses may be present, the mother may lack normal amounts of amniotic fluid or there may be uterine structural abnormalities.
- Malformations of the central nervous system (the brain 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 can be a component of numerous condition caused by environmental factors, single gene changes (autosomal dominant, autosomal recessive, X-linked), chromosomal abnormalities and various syndromes.
Some patients, however, have persistent functional difficulties despite a rigorous physical therapy regimen. In these cases, surgery may be recommended to achieve better positioning and increase the range of motion in certain joints. Rarely, tendon transfers have been done to improve muscle function.
In general, many people affected by AMC have a good prognosis. With physical therapy and other available treatments, substantial improvement in joint function and mobility is normally possible. Most people with AMC are of normal intelligence and are able to lead productive, independent lives as adults.
Since arthrogryposis multiplex congenita is a relatively rare group of conditions, few therapists or doctors have dealt with very many cases. Therefore, it is advisable to contact doctors and therapists in treatment centers where a large number of patients with this condition have been seen. AVENUES, a national support group for arthrogryposis multiplex congenita, lists several treatment centers which are staffed by medical professionals with experience treating individuals with arthrogryposis multiplex congenita. Click here for the location of treatment centers near you.
P.O. Box 5192
Sonora CA 95370
To find other organizations that provide general or condition-specific support for arthrogryposis multiplex congenita, please click here.
- Harold Chen, MD, MS, FAAP, FACMG. Arthrogryposis. Medscape Reference. February 2013; http://emedicine.medscape.com/article/941917-overview.
- Arthrogryposis Multiplex Congenita. NORD. February 2013; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/211/viewAbstract.
- 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.