An Asian Patient with Myoclonus-Dystonia (DYT11) Responsive to Deep Brain Stimulation of the Globus Pallidus Internus

Figure 1

Pedigree structure of the family. I-1 (74 years) had mild myoclonus in his neck induced by psychiatric stress. II-1 (45 years) had cervical dystonia, writer’s cramp, and mild myoclonus in her upper limb, neck, and voice. Alcohol intake does not improve her symptoms, according to interview. II-2 (42 years) is the proband of this family and has an 𝜀-sarcoglycan gene mutation causing DYT11. Details are described in the text. II-3 (40 years) had cervical dystonia, mild action myoclonus in her right hand, and psychiatric symptoms, which were diagnosed as schizophrenia by psychiatrists. She often feels fear. In III-2 (21 years) and III-3 (13 years), cervical dystonia and minimal postural tremor of hands were observed. III-5 (7 years) had cervical and lingual dystonia and water phobia. III-6 (13 years) showed cervical dystonia and mild postural tremor in her upper limbs. The symptoms of the first and third generations were milder than those of the second generation. I-2 (72 years), III-1 (4 years), and III-4 (12 years) do not have any motor or psychiatric symptoms. ∗: directly examined individual; P: proband; M: myoclonus; D: dystonia; PS: psychiatric symptom; T: postural tremor; WC: writer’s cramp.