Amyotonia congenita (Oppenheim) is a rare disease. Since its differentiation by Oppenheim in 1900 from the general group of wasting diseases, there have appeared in the world's literature reports of about 200 cases, only about 50 of which have included observations at necropsy.
The clinical syndrome is reasonably definite, but the pathologic changes found at necropsy have not been entirely uniform. Little is known about the etiology or pathogenesis of the disease. The cases reported here seem to shed new light on the genetic nature of the disorder.
CLINICAL AND PATHOLOGIC PICTURE
The outstanding feature of amyotonia congenita is underdevelopment and hypotonicity of the skeletal musculature. The disease is first apparent in early infancy, and there is evidence1 that it antedates birth. The hypotonicity interferes with normal postural development. When the disease is severe, the infant is never able to hold up its head or to sit erect. When
BURDICK WF, WHIPPLE DV, FREEMAN W. AMYOTONIA CONGENITA (OPPENHEIM): REPORT OF FIVE CASES WITH NECROPSY; DISCUSSION OF THE RELATIONSHIP BETWEEN AMYOTONIA CONGENITA, WERDNIG-HOFFMANN DISEASE, NEONATAL POLIOMYELITIS AND MUSCULAR DYSTROPHY. Am J Dis Child. 1945;69(5):295–307. doi:https://doi.org/10.1001/archpedi.1945.02020170030006
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