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Article
November 1972

Familial Congenital Disorder Resembling Stiff-Man Syndrome

Author Affiliations

Boston
From the Pediatric Clinical Center, Boston City Hospital, and the Department of Pediatrics, Boston University School of Medicine, Boston.

Am J Dis Child. 1972;124(5):730-731. doi:10.1001/archpedi.1972.02110170108018
Abstract

An inherited, congenital disorder resembling stiff-man syndrome is described in ten individuals from three generations of a family. The disease is apparently inherited as a dominant trait; x-linkage cannot be excluded. The diagnosis was based on the following criteria; (1) attacks of stiffness precipitated by surprise or minor physical contact; difficulty in sudden movements but absence of signs of myotonia or myokymia; (2) presence of the electromyographic counterpart of the stiffness, continuous activity at rest with normal action potentials; (3) disappearance of the continuous electrical activity after diazepam.

The symptoms were most marked in infancy, but ameliorated with time, becoming milder than in the average acquired case. The cause of this familial syndrome is presumably different from that or those of acquired, sporadic cases of stiff-man syndrome.

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