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Background Anterocollis posture is a relatively rare finding among patients with cervical dystonia and often the cause of treatment failure. The dystonic posture can be complex to analyze, and the deep flexor muscles of the neck, longus capiti, and longus coli can be challenging to access. Methods We present a modification of a previously described endoscopic technique that allows straightforward access to the longus capiti muscles in an outpatient setting under local anesthetic. Results We describe the technique based on our experience on 6 patients during a 2-year period with a total of 22 injections, and we review the literature. Conclusion The injection is well tolerated and has led to significant improvement in the majority of patients.

Background Anterocollis (AC) is a rare form of cervical dystonia, which responds poorly to botulinum toxin treatment. Objectives To recognise the different clinical phenotypes of AC and to detail the selection of muscles from the results of treating a cohort of 15 AC patients with Botulinum Toxin. Methods The study was performed using prospectively collected data. We included 15 patients with cervical dystonia and AC posture, treated between 2016 and 2019 in our joint Neuro-ENT clinic. We excluded patients with posterior cervical muscle weakness and patients with Parkinsonism. We characterised the primary dystonic posture of every AC patient as posterior sagittal shift, head flexion or neck flexion, or a combination of the three. Results All AC patients had a more widespread dystonic picture with a majority having Meige syndrome, but AC was the most problematic feature. Treatment with botulinum toxin required the injection not only of the deep cervical flexor (DCF), but also the sterno-cleido-mastoid (SCM) and moreover the supra-hyoid (SH) muscles. The choice between the longus capiti and the longus colli depended on the AC posture. Half of the patients had a dramatic improvement with 90% satisfaction or above. Conclusion AC posture is a complex but treatable type of CD. A joint Neuro-ENT clinic is an ideal setting in which to target all the dystonic muscles. This allows the injection of the longus capiti (under nasal endoscopic approach) as well as the supra-hyoid and SCM muscles in the same session.

Highlights • 13 patients with Meige (craniocervical dystonia) syndrome and breathing difficulties were identified, 6 with and 7 without laryngeal involvement. • 77% had a good (>50%) response to Botulinum toxin injection(s). • Among the 13 Meige patients, all patients, except one, had clinical signs of supra-hyoid muscles involvement, we believe this muscle group is the main cause of the dyspnoea in this specific Meige phenotype., Background Dyspnoea is rarely mentioned in the clinical description of adult-onset isolated dystonia. In this study, we present the clinical features of 13 patients with Meige syndrome (cranio-cervical dystonia) with breathing difficulties. Methods A retrospective case note review was performed of patients presenting with Meige syndrome and shortness of breath, to a neuro-laryngology MDT clinic. Results Some patients were severely limited by their breathlessness, but others did not volunteer these symptoms. The majority of patients were referred with the assumption that the larynx was the cause of the problem; however half the patients did not have evidence of laryngeal involvement. Of the patients who had laryngeal involvement, injecting the larynx alone did not always relieve the dyspnoea. The majority of our patients responded to injection of the suprahyoid muscles, including genioglossus, digastric and mylohyoid. Conclusion We recommend routinely establishing if the patient with Meige syndrome has signs or symptoms of breathlessness, and establishing the level of the problem, as this can be treated successfully.

Background: One of the main difficulties in the treatment of dystonic anterocollis is the injection of the deep flexor muscles of the neck such as Longus Colli (LCo). The injection of the LCo has been regarded as difficult and potentially dangerous; since we published our anterior median approach, a number of questions about the precision and the safety of our technique have been raised by colleagues. Methods: 7 patients with anterocollis were injected, using our injection technique and when the needle was deemed to be in place, we used the ultrasound probe to determine what the needle had passed through, the depth of the tip of the needle and if the identified muscle was indeed LCo. Results: On the ultrasound section the LCo muscle is between 24 and 28 mm deep in the patients examined in this study. The location of the needle was confirmed by ultrasound and in most cases the needle was placed in the right axis but sometimes not deep enough. The EMG control made it possible to correct the depth in all cases. In most of the injections the needle traversed the thyroid. No acute incident occurred by this route of injection. Injections were performed between 22 and 28 mm deep. Discussion: From this study and based on a review of complications over 9 years experience with injecting LCo under EMG control using an anterior approach, we conclude that this technique is precise, safe and well tolerated. Summary (Highlights): The injection of the Longus Coli muscle for anterocollis has been regarded as difficult and potentially dangerous. This study showed, using ultrasound to determine the needle trajectory, that the anterior approach using EMG control is a precise, safe and well tolerated technique.

Notch signaling is a highly conserved intercellular pathway with tightly regulated and pleiotropic roles in normal tissue development and homeostasis. Dysregulated Notch signaling has also been implicated in human disease, including multiple forms of cancer, and represents an emerging therapeutic target. Successful development of such therapeutics requires a detailed understanding of potential on-target toxicities. Here, we identify autosomal dominant mutations of the canonical Notch ligand Jagged1 (or JAG1) as a cause of peripheral nerve disease in 2 unrelated families with the hereditary axonal neuropathy Charcot-Marie-Tooth disease type 2 (CMT2). Affected individuals in both families exhibited severe vocal fold paresis, a rare feature of peripheral nerve disease that can be life-threatening. Our studies of mutant protein posttranslational modification and localization indicated that the mutations (p.Ser577Arg, p.Ser650Pro) impair protein glycosylation and reduce JAG1 cell surface expression. Mice harboring heterozygous CMT2-associated mutations exhibited mild peripheral neuropathy, and homozygous expression resulted in embryonic lethality by midgestation. Together, our findings highlight a critical role for JAG1 in maintaining peripheral nerve integrity, particularly in the recurrent laryngeal nerve, and provide a basis for the evaluation of peripheral neuropathy as part of the clinical development of Notch pathway-modulating therapeutics.