Uruha, 2014: Overview of all reported DYT-SGCE patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
A
JPN
5
42
Yes
Dystonia, task-specific
Myoclonus
Myoclonus, axial
Myoclonus, action
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, truncal
Myoclonus, Upper Limb
Anxiety panic attacks
Myoclonus,generalized
Writer's Cramp
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Myoclonus, Upper Limb
c.233-1G>A: het