In this article, we will discuss the essential aspects of arthrogryposis multiplex congenita (AMC), a rare congenital disorder characterized by multiple joint contractures at birth.
There is no known specific cause of AMC, but it is believed to be caused by an abnormal development of fetal muscles and connective tissues during pregnancy. Individuals with AMC may develop joint contractures due to a variety of factors, such as genetic mutations, intrauterine stress, vascular compromise, and neurological abnormalities.
Among the symptoms of AMC are limited range of motion, muscle weakness, joint deformity, stiffness, and rigidity of the limbs. Different individuals may experience different levels and severity of joint involvement, with some experiencing multiple joint involvement throughout the body and others experiencing isolated joint contractures.
AMC can be diagnosed by examining the joints, muscles, and range of motion thoroughly. For evaluating joint deformities and assessing for associated abnormalities in the bones, muscles, and connective tissues, imaging studies such as X-rays, ultrasounds, and magnetic resonance imaging (MRI) may be used. Individuals with suspected AMC may also undergo genetic testing to identify underlying genetic mutations or syndromic associations.
For those with AMC, treatment aims to improve mobility, function, and quality of life. It is essential to intervene early with physical therapy, occupational therapy, and orthopedic interventions to maximize mobility and prevent secondary complications such as muscle contractures, joint dislocations, and spinal deformities. To address severe joint contractures or deformities that limit functional mobility, orthopedic surgeries, such as tendon releases, joint manipulations, or corrective osteotomies, may be performed.
Identifying potential risk factors or underlying conditions that may contribute to abnormal fetal development is one way to prevent AMC during early prenatal care and screening. Individuals with a family history of AMC or known genetic mutations associated with the condition may benefit from genetic counseling. It is possible to reduce the risk of AMC in newborns by avoiding exposure to teratogenic factors, maintaining a healthy lifestyle during pregnancy, and following medical recommendations for managing underlying medical conditions.
Ultimately, arthrogryposis multiplex congenita (AMC) is a rare congenital disorder characterized by multiple joint contractures from birth. In order to improve mobility and quality of life for individuals who suffer from AMC, early diagnosis and intervention with physical therapy, orthopedic interventions, and supportive care are crucial. Consult a healthcare professional if you suspect your child has AMC or have concerns about joint contractures.
