Arthrogryposis multiplex congenita

Arthrogryposis multiplex congenita (AMC), also known as multiple congenital contractures, is a group of conditions characterized by nonprogressive joint contractures present at birth in two or more body areas. The term 'arthrogryposis' literally means 'curved or hooked joints.' AMC is not a single disease but rather a clinical finding that can result from over 400 different conditions. It affects the musculoskeletal and neuromuscular systems, with the hallmark feature being limited movement of multiple joints due to fibrosis of muscles, thickening of joint capsules, or abnormal connective tissue. The contractures develop because of reduced fetal movement (fetal akinesia) during pregnancy, which can be caused by neurological, muscular, connective tissue, or environmental factors. Key clinical features include fixed joint contractures in the limbs, decreased muscle mass, and sometimes involvement of the spine and jaw. The upper and lower extremities are most commonly affected, with typical findings including internally rotated shoulders, extended elbows, flexed wrists, and equinovarus (clubfoot) deformities. Affected individuals may also have dislocated hips and limited range of motion in the knees. Intelligence is usually normal unless the underlying cause involves the central nervous system. The severity varies widely, ranging from mild involvement of a few joints to severe involvement of nearly all joints. Treatment is multidisciplinary and focuses on maximizing joint mobility and function. Early physical and occupational therapy, including stretching and splinting, is the cornerstone of management and should begin shortly after birth. Serial casting may be used to gradually improve joint position. Surgical interventions, such as soft tissue releases, tendon transfers, and osteotomies, may be necessary when conservative measures are insufficient. Assistive devices and adaptive equipment can help improve independence. While there is no cure for AMC, many individuals achieve significant functional improvement with early and sustained intervention, and the contractures are typically nonprogressive after birth.

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