Arthrogryposis Multiplex Congenita

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Abstract
Arthrogryposis multiplex congenita, or amyoplasia congenita, was probably first described by Otto in 1841 (1). Rocher (2) collected 31 cases of the disease from the literature in 1913, giving it the name of multiple congenital rigidities. Stern (3) introduced the term arthrogryposis multiplex congenita in 1923. In 1932, Sheldon (4) suggested the shorter designation, amyoplasia congenita. Further descriptions and case presentations followed, by Steindler (5), Hillman and Johnson (6), Badgley (7), and others. Clinical Features Arthrogryposis multiplex congenita is present at birth and is recognizable by the presence of flexion and∕or extension contractures of a few or many of the joints of the extremities. In many cases all four extremities are affected; in other instances a single limb is involved. Brandt (8) has stated that the infant looks like a wooden doll. The disease is generally symmetrical and is probably the result of incomplete development or failure of development of one or more muscle groups during intra-uterine life. It is generally stated that the muscles of the trunk and head are spared, but Adams, Denny-Brown, and Pearson (9) claim that the erector spinae muscles may be involved, with resulting scoliosis, and Ealing (10) described a case with rigidity of the temporomandibular joints. Generally, the affected limbs are small in circumference and the joints, by contrast, are unusually large. Complete ankylosis is uncommon; usually, some slight joint motion, both active and passive, is possible. Muscular weakness and hypotonia are prominent features in most instances. The muscles are generally quite thin; frequently they cannot be felt at all. Electrical reactions are usually feeble or absent, but the reaction of degeneration is not observed. As a rule, tendon reflexes cannot be obtained. The skin and subcutaneous tissues are thickened, wrinkled, and flabby, with general nutrition below normal. Luxations and subluxations of many joints may occur. Associated anomalies include webbed fingers, polydactyly, hydrocephalus and other malformations of the skull, absence of the sacrum and of the patella, Klippel-Feil syndrome, Sprengel's deformities, clubfeet, clubhands, and acetabular dysplasia. Steindler classified the disease into three general groups: 1. Extension contractures involving the knees, the elbows, or all four extremities. In this group the extremities are usually fixed in extension, abducted, and outwardly rotated. Clubfoot deformities, congenital dislocation of the hips, and absence of the patellae may occur concomitantly. 2. The flexion type. Here the hips are abducted, with outward rotation in flexion, and are often subluxated or dislocated. The flexion of the knees is so severe that the heels can almost touch the buttocks. The legs are frequently externally rotated. 3. The mixed group.

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