Since the first descriptions of amyotonia congenita by Oppenheim,1 Batten2 and Berti,3 about two hundred cases of this disease have been reported. The criteria for diagnosis are: (1) onset early in life, (2) remarkable muscular flaccidity and loss of power, chiefly in the lower extremities; (3) absence or diminution of tendon reflexes; (4) absence of apparent muscular atrophy; (5) quantitative diminution of electrical reactions but absence of reaction of degeneration, and (6) normal mentality and sensation. Males and females are about equally affected. The symptoms are noted at or soon after birth in over 80 per cent of cases (Faber4). Early writers stressed the nonfamilial character of the disease, but more recently numerous familial examples have been noted (Foot,5 Reuben,6 Allaben,7 Gurdjian8).
Oppenheim1 and Spiller,9 who reported the first observations at autopsy, believed that the disease was due to arrested
Hurwitz S, Gerstle M. AMYOTONIA CONGENITA WITH FAMILIAL INCIDENCE. Arch NeurPsych. 1935;33(6):1317-1323. doi:10.1001/archneurpsyc.1935.02250180176009