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Arthrogryposis multiplex congenita is a disorder that affects the early development of body joints in a fetus, most commonly the large joints in the arms and legs. An infant who is born with the condition typically has limited mobility and obvious physical deformities in one or more joints. Arthrogryposis multiplex congenita can result from bone, muscle, or connective tissue deformities, abnormalities in the central nervous system, or as a complication of another congenital disorder. Treatment depends on the severity of problems, but many patients are able to gain at least some mobility and independence with a series of surgeries and ongoing physical therapy.
Doctors are unsure of the exact causes of arthrogryposis multiplex congenita. Some cases appear to have some form of genetic inheritance pattern, but the majority of patients have no family history or recognizable genetic mutations. The condition is most likely to appear if an expecting mother suffers a traumatic injury, takes drugs, or is exposed to chemicals early in her pregnancy. Such factors increase the chances of a major spinal cord malformation in an embryo. In addition, a fetus that cannot move around in the womb due to a uterus abnormality, multiple birth, or a lack of amniotic fluid may not be able to fully develop joints, bones, and muscles.
The severity of symptoms can range significantly with arthrogryposis multiplex congenita. Some infants only exhibit minor problems such as slightly bowed legs, club feet, or wrists that turn inward or outward. Others have multiple joint problems that cause their legs or arms to form a sharp curve. The hips may be dislocated at birth, and certain muscles, tendons, or ligaments may be missing at the site of deformed joints as well. Other problems can include spine scoliosis, a flattened nose, large ears, and a distorted jaw.
Most cases of arthrogryposis multiplex congenita are detected while infants are still in the womb with the aid of ultrasounds. After a baby is born, doctors can perform physical examinations, take x-rays and other imaging scans, and perform genetic testing to gauge the severity and look for an underlying cause. Arrangements for corrective surgery or other types of treatment are made early to provide the best possible outcome for a patient.
If a baby does not have serious deformities or life-threatening heart, lung, or spinal cord problems, aggressive treatment is generally postponed for a few years. A surgeon can attempt to improve the appearance and function of a joint by removing excess bone and fibrous tissue. Braces may need to be worn on the legs or back during childhood to promote better alignment. Physical therapy is a mainstay of treatment, and most patients can eventually gain the balance, strength, and flexibility needed to handle basic daily tasks. Patients who receive the proper treatment and support usually enjoy long, mostly independent lifestyles.
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