ARTHROGRYPOSIS MULTIPLEX CONGENITA

The common factor causing congenital arthroglyposis is lack of fetal m ovements. This can result from a large number of disorders. They may b e neuropathic, affecting the brain, the spinal cord, or the peripheral nerves; they may be abnormalities of the muscles, such as myasthenia gravis, congenital muscular dystrophies or mitochondrial cytopathies; they may be diseases of the connective tissues; or they may be conditi ons which limit the space within the uterus; or they may result from d efects of the uterine environment. These are discussed in turn. Typica l clinical findings are given and it is emphasised that the arthrogryp osis is often a manifestation of certain syndromes, some the result of abnormal chromosomes. Although it is not within the scope of this rev iew article to describe these in detail, examples are given. In partic ular the subgroup of distal arthrogpyposes and amyoplasia are consider ed. The importance of trying to define a cause is especially the need to give reliable genetic advice to the parents and also to establish a prognosis. The diagnosis will often be made by the associated symptom s and signs, and sometimes by tests such as electromyography and muscl e biopsy. Although some of the diseases will be fatal early in life, t here are many instances when the child will survive into adult life; i f due attention is given to the treatment, particularly orthopedic pro cedures, and to social and educational management. This can only be do ne realistically if there is a good idea of the natural history of the condition underlying the arthrogryposis. (C) 1998 Elsevier Science B. V. All rights reserved.