case_images: PMC9058460_01
case_images: Dystonic postures and skeletal deformities in affected individuals with GNAO1 variants: (a) picture of Patient 1 before surgery showing remarkable dystonia in his left limbs and trunk torsion. (b) The spine radiograph before surgery demonstrating remarkable scoliosis with a Cobb angle of 25  in Patient 1. (c) Picture of Patient 2 before surgery showing dystonic postures in her hands, with severe contractures. (d) Picture of Patient 3 before surgery showing dystonia in the upper and lower limbs with knee flexion and scoliosis. (e) Patient 1 exhibited a significant improvement in limb and trunk dystonia when evaluated 14 months after GPi DBS. (f) Patient 2 showed an obvious improvement in upper limb dystonia at a follow-up 24 months after surgery. (g) Dystonic postural improvement is shown in Patient 3 15 months after STN DBS surgery.
case_images: 10.1177_17562864221093507-fig2.jpg
case_images: PMC9058460_01_10.1177_17562864221093507-fig2.jpg
case_images: fig2-17562864221093507
case_images: When he was admitted to the hospital at the age of 17, his movement symptoms had worsened, as indicated by the development of torsional trunk movement to the left, which was accompanied by a twisting of the left arm, as well as left torticollis (Figure 2(a)). In addition, he had remarkable scoliosis, with a Cobb angle of 25  as seen on a radiograph of the spine (Figure 2(b)), which was due to long-term severe trunk dystonia. Neurological examinations showed a twisting and repetitive flexion of the metacarpophalangeal and interphalangeal joints because of the increased muscle tone of the hand flexor muscles (Figure 2(c)). When he was hospitalized at the age of 5, he could stand without external support, but he had difficulty walking unaided (Figure 2(d)).