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Congenital stiff-man syndrome

✍ Scribed by James E. Sander; Robert B. Layzer; Alan B. Goldsobel

Publisher
John Wiley and Sons
Year
1980
Tongue
English
Weight
270 KB
Volume
8
Category
Article
ISSN
0364-5134

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✦ Synopsis

Abstract

A second large family with a dominantly inherited benign disorder resembling the stiff‐man syndrome is reported. The infants are markedly hypertonic at birth, but their tone becomes almost normal by 3 years of age. Stiffness reappears at adolescence, often precipitated by sudden movement or cold, but remains mild when compared with the sporadic disorder.

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## Abstract An additional case of the stiff‐man syndrome manifested by extremely painful, fluctuating muscular spasm and rigidity is reported. Eighteen cases previously reported in the literature are reviewed, and the accumulated indications for a metabolic defect and/or myopathy are presented.