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Stiff child syndrome with mutation of DYT1 gene

From the Department of Pediatrics and Adolescent Medicine (Dr. Wong), The University of Hong Kong, Queen Mary Hospital, Hong Kong; Department of Chemical Pathology (Dr. Lam), The Chinese University of Hong Kong, Prince of Wales Hospital, Hong Kong; Department of Pediatrics and Adolescent Medicine (Dr. Fung), The University of Hong Kong, Queen Mary Hospital, Hong Kong, China.

Address correspondence and reprint requests to Professor Virginia C.N. Wong, Division of Neurodevelopmental Pediatrics, Department of Pediatrics and Adolescent Medicine, The University of Hong Kong, Hong Kong, China; e-mail: vcnwong{at}hkucc.hku.hk.

The authors report a Chinese boy with a DYT1 gene mutation having muscle stiffness, severe painful muscle spasm, myoclonus, and dystonia compatible with stiff child syndrome. Autoantibodies to glutamic acid decarboxylase (anti-GAD) were absent. His asymptomatic mother had a DYT1 mutation. His asymptomatic sister has diabetes mellitus and antibodies to glutamic acid decarboxylase but no DYT1 mutation.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the November 8 issue to find the title link for this article.

Presented at the Ruby Jubilee Meeting of the Department of Pediatrics and Adolescent Medicine, University of Hong Kong, Hong Kong, September 25–26, 2004, and the 9th International Congress of Parkinson's Disease and Movement Disorders, New Orleans, March 5–8, 2005.

Disclosure: The authors report no conflicts of interest.

Received March 1, 2005. Accepted in final form July 29, 2005.

This article has been cited by other articles:

				P. E. Greene, W. Dauer, and V. Wong Stiff child syndrome with mutation of DYT1 gene Neurology, May 9, 2006; 66(9): 1456 - 1456. [Full Text] [PDF]

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