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The article provides a detailed examination of clinical management and support for patients with Amyotrophic Lateral Sclerosis (ALS) and other neuromuscular diseases, emphasizing the need for new evaluation tools and innovative technologies. It explores various aspects such as upper airway disorders, speech and swallow changes, remote monitoring, and the impact of dietary factors on disease progression. The study also discusses the legal and governance framework for PRECISION ALS, ensuring compliance with data protection regulations and ethical standards to facilitate international collaboration and data sharing for ALS research. The text offers a comprehensive overview of research projects related to ALS and Frontotemporal Degeneration (FTD), covering topics like caregiver experiences, the impact of COVID-19 on Motor Neurone Disease (MND) care, and the challenges faced by healthcare professionals in providing care for ALS patients. [Extracted from the article]

Objectives: To expand the phenotype and genotype of VPS16 -related dystonia (DYT -VPS16 )., Methods: We report 2 patients with previously unreported VPS16 truncating variants and highlight some distinctive phenomenological characteristics of DYT- VPS16., Results: The 2 patients, who were unrelated, presented with early-onset orofacial dystonia with prominent tongue involvement. Case 1, a 37-year-old woman, developed disabling orofacial dystonia, with tongue protrusion (lingual dystonia), orofacial gesticulations, and hyperkinetic dysarthria, responsible for an odd "foreign language" quality. Case 2, a 36-year-old woman, exhibited orofacial dystonia with prominent lingual involvement and orofacial gesticulations. In both patients, orofacial dystonia led to predominant speech impairment with no or discrete swallowing difficulties., Discussion: Substantial tongue dystonia may be a distinctive feature of DYT- VPS16 . Our cases widen the phenotypic spectrum of DYT- VPS16 and may provide physicians with a new clinical clue for this disease., Competing Interests: The authors report no relevant disclosures. Go to Neurology.org/NG for full disclosures., (Copyright © 2024 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.)

Background: Integrated care pathways can help to avoid unnecessary admissions to hospital and improve the overall quality of care for frail older patients. Although these integrated care pathways should be coordinated by GPs their level of commitment may vary., Aim: To profile GPs who had participated or had declined to participate in the Personnes Agées En Risque de Perte d'Autonomie (PAERPA) integrated care project (ICP) in the Valenciennois-Quercitain area of France between 2014 and 2019., Design and Setting: A combined qualitative and quantitative analysis of GPs who were participating in or had declined to participate in the PAERPA ICP., Method: Both GPs participating in the ICP and GPs who chose not to participate in the ICP were interviewed, and then consultation and prescription profiles for these two groups were compared., Results: Some GPs were interested in the PAERPA ICP, whereas others were opposed. The 48 qualitative interviews revealed four issues that influenced participation in the PAERPA ICP: 1) awareness of issues in care of older adults and the value of collaborative work; 2) time saving; 3) task delegation; and 4) advantages of coordination. The level of interest in the ICP for frail older adults was indirectly reflected by the data on consulting and prescribing. In GPs who participated in the PAERPA ICP there was a greater proportion of older (aged ≥70 years) patients ( P <0.05), a larger number of consultations per year ( P <0.05), and a larger number of home visits ( P <0.01), relative to GPs who declined to participate., Conclusion: The level of interest in the PAERPA ICP for frail older adults varied widely among GPs. These findings suggest that commitment to an integrated care pathway could be increased by customising the recruitment strategy as a function of the GP's profile., (© The Authors.)