Arthrogryposis

Abstract

There are over 300 discrete conditions that fall within the umbrella diagnosis of arthrogryposis multiplex congenita, also known simply as arthrogryposis. By definition, these conditions all present at birth (congenital) with joint contractures of at least two limbs. Severity of symptoms can vary dramatically from a child born with gastroschisis and no independent ventilatory function to a child with mild bilateral small finger camptodactyly. Most conditions improve with age such as amyoplasia that makes up 30% of cases, but some can be progressive such as spinal muscular atrophy type 1 that typically results in loss of the child within 2 years old. The role of the therapist in caring for these patients is threefold: (1) assessing the child’s function and functional goals, (2) assisting with surgical planning, and (3) providing pre- and postoperative therapy. The treatment goals are to maximize joint motion, compensatory strategies, and overall independence.