The pathogenesis of arthrogryposis multiplex congenita has continued to be obscure since the disorder was first described by Otto in 1841. Although there is fairly uniform agreement today that the multiplex congenital contractures found in this disease are related to abnormality of muscle and to reduced intrauterine movement, the nature and cause of the muscle abnormality remain in doubt.1-3
After reviewing the literature, Drachman and Banker4 concluded that all cases labeled arthrogryposis which have had microscopic examination of muscle showed changes attributable either to denervation or to a primary nonprogressive myopathy. They point out that in 12 of the 13 known cases in which the spinal cords of arthrogrypotic patients have also been studied, the one consistent finding has been significant reduction in the number of anterior horn cells, particularly at cervical and lumbosacral levels. In 1 of the 12 spinal cords neuronophagia was observed, and this was
SMITH EM, BENDER LF, STOVER CN. Lower Motor Neuron Deficit in Arthrogryposis: An EMG Study. Arch Neurol. 1963;8(1):97–100. doi:10.1001/archneur.1963.00460010113013
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