First published: 16 April 2019
A 15-year-old patient exhibits abnormal movements with dystonic-myoclonic jerks focused mainly on the neck and upper limbs. These manifestations are invasive and can be exacerbated by movement and above all slightest touch. The symptoms started when he was 2-year-old with mild transient ataxia, followed by myoclonus and finally dystonia that quickly became the prominent symptom. Dystonic movements mainly appear in orthostatic position and induce left torticollis combined with severe ipsilateral laterocollis. The boy has developed spontaneously a particular geste antagoniste1 combining lateral decubitus and the application of his left hand on the ipsilateral temple, leading to a caricatured posture reminiscent of the “Odalisques” (figure 1 and 2). The patient is homozygous for ATM c.3149T>C (p.(Leu1050Pro)), leading to a variant form of Ataxia-Telangiectasia2 .