Distal Arthrogryposis and Arthrogryposis Syndromes with Diffuse Involvement (Amyoplasia)

Arthrogryposis is a congenital, non-progressive collection of conditions of varying etiologies that are characterized by joint stiffness and contractures affecting at least two different areas of the body, with associated muscle wasting and fusiform joint configuration. Arthrogryposis can occur alone, or be associated with multiple developmental defects, with or without central nervous system (CNS) involvement and includes more than 400 specific conditions with genetic linkage. Decreased or restricted in utero movement is the primary etiology. Identification is possible early in pregnancy with standard diagnostic testing and at times sequential ultrasonography. Common clinical presentations of classic arthrogryposis, arthrogryposis multiplex congenita (AMC), distal arthrogryposis (DA), and other variable types are described. A multidisciplinary approach is required to identify patient and family goals and coordinate multiple treatments to include stretching, contracture management, orthopedic surgical interventions with involvement of rehabilitation specialists for optimal outcomes.