Arthrogryposis multiplex congenital affects fetal joint development, causing physical deformities and limited mobility. Causes include genetic mutations, traumatic injury, drug exposure, or abnormal uterus. Treatment includes surgery and physical therapy, and severity varies. Early detection is possible through ultrasound, and treatment is tailored to each patient’s needs.
Arthrogryposis multiplex congenital is a disease that affects the early developing joints of the body in a fetus, most commonly the large joints in the arms and legs. A child born with the condition typically has limited mobility and obvious physical deformities in one or more joints. Congenital arthrogryposis multiplex can result from bone, muscle, or connective tissue deformities, central nervous system abnormalities, or as a complication of another congenital disorder. Treatment depends on the severity of the problems, but many patients are able to gain at least some mobility and independence with a series of surgeries and ongoing physical therapy.
Doctors aren’t sure of the exact causes of arthrogryposis multiplex congenita. Some cases appear to have some form of genetic inheritance pattern, but most patients have no family history or recognizable genetic mutations. The condition is more likely to occur if an expecting mother suffers a traumatic injury, takes drugs, or is exposed to chemicals in early pregnancy. Such factors increase the chances of a severe spinal cord malformation in an embryo. Also, a fetus that cannot move in the uterus due to an abnormality of the uterus, multiple births, or a lack of amniotic fluid may not be able to fully develop joints, bones, and muscles.
The severity of symptoms can vary significantly with arthrogryposis multiplex congenita. Some babies show only minor problems such as slightly bent legs, club feet, or wrists that turn in or out. Others have multiple joint problems that cause their legs or arms to form a sharp curve. The hips may be dislocated at birth, and some muscles, tendons, or ligaments may also be missing at the site of the deformed joints. Other problems may include scoliosis of the spine, a flattened nose, large ears and a distorted jaw.
Most cases of congenital arthrogryposis multiplex are detected while the babies are still in the womb with the help of ultrasound. After a baby is born, doctors may do physical exams, take x-rays and other imaging scans, and perform genetic tests to assess its severity and look for an underlying cause. Arrangements for corrective surgery or other types of treatment are made in advance to provide the best possible outcome for a patient.
If a child does not have severe deformities or life-threatening heart, lung, or spinal cord problems, aggressive treatment is usually delayed for a few years. A surgeon may attempt to improve the appearance and function of a joint by removing excess bone and fibrous tissue. You may need to wear leg or back braces in infancy 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 activities. Patients who receive the proper treatment and support usually enjoy long and mostly independent lifestyles.
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