Arthrogryposis multiplex congenita. I. Clinical and electromyographic aspects.
Sixteen cases with arthrogryposis multiplex congenita were examined clinically and electromyographically; three of them were re-examined later. Joint deformities were present in all extremities in 13 of the cases; in eight there was some degree of mental retardation. In two cases, there was clinical and electromyographic evidence of a myopathic disorder. In the majority, the appearances of the shoulder-neck region suggested a developmental defect. At the same time, selective weakness of muscles innervated by C5-C6 segments suggested a neuropathic disturbance. EMG revealed, in eight of 13 cases, clear evidence of denervation of muscles, but without any regenerative activity. The non-progressive nature of this disorder and capacity for improvement in muscle bulk and power suggest that denervation alone cannot explain the process. Re-examination of three patients after two to three years revealed persistence of the major deformities and muscle weakness noted earlier, with no appreciable deterioration.
D000293:Adolescent; D000843:Ankle Joint; D001176:Arthrogryposis / Q000175:diagnosis / Q000000981:diagnostic imaging / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004576:Electromyography; D005145:Face; D005260:Female; D006621:Hip Joint; D006801:Humans; D007223:Infant; D007719:Knee Joint; D008297:Male; D009121:Muscle Denervation; D009132:Muscles / Q000503:physiopathology*; D009333:Neck; D009431:Neural Conduction; D011859:Radiography; D012018:Reflex; D012785:Shoulder Joint; D014955:Wrist Joint