Increased Collagen Synthesis in Arthrogryposis Multiplex Congenita

Abstract

THE etiology and pathogenesis of arthrogryposis multiplex congenita (AMC) are not well understood. Most investigators accept the concept that the disease is a syndrome with different causes. These may be genetic¹ or environmental² and can be associated with neurological lesions of supranuclear structures³ or of anterior horn cells,^4,5 primary muscle disorders,^6,7 or failure of muscle development (amyoplasia).⁸ In an attempt to evolve a unified hypothesis, McKusick⁹ proposed that several clinical features of AMC, such as changes in the joints or the skin and the occurrence of hernia, suggest a heritable disorder of connective tissue. Consistent with this view is the histopathological study of Hariga et al,¹⁰ suggesting that an increase of fibrous tissue precedes muscle fiber degeneration. Nevertheless, there is a clear need for biochemical data to support this idea. As part of a broader study of protein synthesis in human