Patients and clinical evaluation:
We report the case of a 17-year-old Moroccan girl suffering from
myoclonic dystonia, whose first symptoms began since her childhood:
essential resting myoclonuses and actions accentuated by stress and
emotion with a slight psychomotor retardation. The patient was operated
at the age of two years for ventricular communication with good
progress. The disease is segregated in this Moroccan family in autosomal
dominant form on the paternal side (6 cases) and over three generations
(Figure 1), with incomplete penetrance. The parents are phenotypically
normal. Cytogenetic examination showed a normal karyotype.
The genetic study was approved by
the ethic committee of Cheikh Khalifa Hospital according to the
declaration of Helsinki protocol and all subjects gave a written
informed consent before testing.