Abstract
A Chinese boy with a DYT1 gene mutation presented with muscle stiffness, painful muscle spasms, myoclonus, and dystonia, compatible with stiff child syndrome, and is reported from Queen Mary Hospital, the University of Hong Kong.
Highlights
A Chinese boy with a DYT1 gene mutation presented with muscle stiffness, painful muscle spasms, myoclonus, and dystonia, compatible with stiff child syndrome, and is reported from Queen Mary Hospital, the University of Hong Kong
I recall a 7-year-old, African-American, male child with the syndrome at Children's Memorial Hospital, Chicago, in 1964; he responded partially to oral diazepam; the pathology was thought to be located in the spinal cord interneurons
The syndrome is rare in children, and has been described in newborns
Summary
Basal ganglia volumes of 43 children with Tourette syndrome (TS) were measured on MRI before age 14 years, and clinical assessment conducted after age 16, an average of 7.5 years later, at Yale University, New Haven, CT, and Columbia University. A Chinese boy with a DYT1 gene mutation presented with muscle stiffness, painful muscle spasms, myoclonus, and dystonia, compatible with stiff child syndrome, and is reported from Queen Mary Hospital, the University of Hong Kong. Stiffness of the left ankle began at age 4 years and spread to the right lower limb over a few months. Painful muscle spasms of the lower limbs developed 1 year later, and gradually extended to the trunk.
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