Increased Collagen Synthesis in Arthrogryposis Multiplex Congenita

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 genetic1or environmental2and can be associated with neurological lesions of supranuclear structures3or of anterior horn cells,4,5primary muscle disorders,6,7or failure of muscle development (amyoplasia).8In an attempt to evolve a unified hypothesis, McKusick9proposed 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,10suggesting 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