Abstract
Arthrogryposis multiplex congenita (AMC) describes conditions that have congenital non-progressive multiple joint contractures. The common pathway to congenital contractures appears to be decreased fetal movement. Multiple congenital contractures can occur as a manifestation in a large number of syndromes, including chromosomal abnormalities, metabolic disorders, disorders with severe hypotonia, and syndromes of unknown etiology. Shortly after birth, it is important for a child with arthrogryposis to be seen by a physical therapist, an orthopedist, and a neurologist to determine the course of therapy that can provide the best response. For a differential diagnosis of arthrogryposis, affected children are separated into three categories: (1) those primarily with limb involvement, (2) those with limb involvement plus other organ involvement, and (3) those primarily having central nervous system (CNS) dysfunction. Amyoplasia is a very specific type of arthrogryposis. Many forms of arthrogryposis have decreased muscle mass, hypoplastic muscle, or loss of muscle with fatty and fibrous replacement. Broad varieties of genetic and environmental factors are involved in various types of arthrogryposes. The challenge in arthrogryposis is in identifying a specific etiology. Arthrogryposis is neuropathic in origin, and with the anterior horn cell being suspect, it is not at all clear what comes first during the course of in utero development.
Published Version
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