Congenital arthromyodysplasia, also known as arthrogryposis multiplex congenita (AMC), is a rare and non-progressive disorder characterized by the presence of multiple joint contractures and muscle weakness at birth. It is believed to be caused by abnormal development of the muscles, tendons, and joint structures before birth. The term "congenital" indicates that the condition is present at the time of birth.
Arthrogryposis can affect various parts of the body, including the arms, legs, hands, and feet. The joint contractures restrict normal movement, resulting in limited range of motion and stiffness in affected joints. The muscle weakness further contributes to functional limitations.
The severity and distribution of joint contractures can vary widely among individuals with congenital arthromyodysplasia. Some may have only a few joints involved, while others may experience a more generalized and widespread presentation. Additionally, the condition may be associated with other congenital abnormalities or underlying genetic disorders.
The exact cause of congenital arthromyodysplasia is still not fully understood. It can result from genetic and non-genetic factors, such as maternal infections, mechanical constraints in the womb, or vascular compromise. The diagnosis of congenital arthromyodysplasia is typically made based on physical examination, medical history, imaging studies, and genetic testing.
Management of congenital arthromyodysplasia involves a multidisciplinary approach, including orthopedic interventions, physical therapy, occupational therapy, and other supportive measures. Treatment focuses on improving joint mobility, function, and independence, while addressing associated complications and optimizing overall quality of life. Prognosis varies depending on the specific presentation and management of the condition.
