<scp><i>YY1</i></scp>: A New Gene for Childhood Onset Dystonia with Prominent <scp>Oromandibular‐Laryngeal</scp> Involvement?

Abstract

Figure S1. Case 1 (Age 21) Brain MRI (T2 FLAIR) demonstrates (A) subcortical, (B) periventricular, and (C) left anterior temporal lobe white matter hyperintensities. Figure S2. Case 2 (Age 35) Brain MRI (T2 FLAIR) demonstrates (A) bifrontal, (B) subcortical, and (C) periventricular white matter hyperintensities. Video S1. (Age 22) Patient's speech sample demonstrates spastic dysarthria and dysphonia. He has difficulty protruding the tongue and coordinating tongue movements consistent with poor oromotor praxis. There are dynamic contractions of the throat, tongue, and jaw consistent with progressive oromandibular dystonia. With arms outstretched, there is mild dystonic posturing of the hands left greater than right, stereotyped movements of the right lower extremity, intermittent dystonic inversion of both feet with a dystonic upgoing toe on the left and spooning of both hands in the wing-beating posture. There is facial dystonia (pulling and pursing of the lips) exacerbated by manual tasks. There is intermittent, mild dysmetria, and/or mild tremor at endpoint with finger-to-nose testing. Patient's gait is mixed spastic/dystonic. There is bilateral dystonic foot inversion while ambulating forward and backward. Patient can balance on each foot briefly and perform tandem walk. There is increased tone in the lower extremities and brisk patellar reflexes (not shown). Evident throughout the video are mild dysmorphisms including broad forehead, posteriorly rotated ears, and a long face. Video S2. (Ages 21–22) Flexible endoscopic evaluation of swallowing demonstrates laryngeal adductor dystonia with pharyngeal involvement. Video S3. (Age 35) While seated, patient displays bilateral dystonic foot postures and irregular tremulous hand movements. Tremulous upper extremity movements persist with arms outstretched. These are difficult to characterize, but they are most consistent with dystonic tremors with possible cerebellar components. Movements are interrupted by purposeful tasks of the opposite hand, but there is no entrainment. Dystonic postures are evident with arms in wing-beating posture. Tremulous movements interrupt finger-to-nose testing and are most prominent at end-point, but there is no dysmetria. Features not evident on video or noted in the text, but present include a broad forehead, malar flattening, and an intermittent mild tongue tremor. Video S4. (Age 35) Generalized dystonia involving all four limbs is evident with ambulation. The patient is able to run awkwardly, to balance briefly on each foot, and to perform tandem walk. Video S5. (Age 35) Patient is nearly anarthric secondary to prominent oromandibular dysfunction and global discoordination of voice and articulation (laryngoscopy at age 33 identified vocal cords held primarily in the abducted position). Again noted are irregular repetitive hand movements. Appendix S1. Supporting information Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.

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