Chronic Neurology in COVID-19 Era: Clinical Considerations and Recommendations From the REPROGRAM Consortium

With the rapid pace and scale of the emerging coronavirus 2019 (COVID-19) pandemic, a growing body of evidence has shown a strong association of COVID-19 with pre- and post- neurological complications. This has necessitated the need to incorporate targeted neurological care for this subgroup of patients which warrants further reorganization of services, healthcare workforce, and ongoing management of chronic neurological cases. The social distancing and the shutdown imposed by several nations in the midst of COVID-19 have severely impacted the ongoing care, access and support of patients with chronic neurological conditions such as Multiple Sclerosis, Epilepsy, Neuromuscular Disorders, Migraine, Dementia, and Parkinson disease. There is a pressing need for governing bodies including national and international professional associations, health ministries and health institutions to harmonize policies, guidelines, and recommendations relating to the management of chronic neurological conditions. These harmonized guidelines should ensure patient continuity across the spectrum of hospital and community care including the well-being, safety, and mental health of the patients, their care partners and the health professionals involved. This article provides an in-depth analysis of the impact of COVID-19 on chronic neurological conditions and specific recommendations to minimize the potential harm to those at high risk

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease in Spain

Abstract: Introduction: Charcot-Marie-Tooth (CMT) disease is classified considering the neurophysiological and histological findings, the inheritance pattern and the underlying genetic defect. In recent years, with the advent of next generation sequencing, genetic complexity has increased exponentially, expanding the knowledge about disease pathways, and having an impact in clinical management. The aim of this guide is to offer recommendations for the diagnosis, prognosis, monitoring and treatment of this disease in Spain. Material and methods: This consensus guideline has been developed by a multidisciplinary panel encompassing a broad group of professionals including neurologists, neuropediatricians, geneticists, rehabilitators, and orthopedic surgeons. Recommendations : The diagnosis is based in the clinical characterization, usually presenting with a common phenotype. It should be followed by an appropriate neurophysiological study that allows for a correct classification, specific recommendations are established for the parameters that should be included. Genetic diagnosis must be approached in sequentially, once the PMP22 duplication has been ruled out if appropriate, a next generation sequencing should be considered taking into account the limitations of the available techniques. To date, there is no pharmacological treatment that modifies the course of the disease, but symptomatic management is important, as are the rehabilitation and orthopedic considerations. The latter should be initiated early to identify and improve the patient's functional impairments, including individualized exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transpositions. The follow-up of patients with CMT is exclusively clinical, ancillary testing are not necessary in routine clinical practice. (c) 2024 Sociedad Espanola de Neurolog& imath;a. Published by Elsevier Espana, S.L.U. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/ 4.0/)

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease in Spain

Introducción La enfermedad de Charcot-Marie-Tooth (CMT) se clasifica según las características neurofisiológicas e histológicas, el patrón de herencia y el defecto genético subyacente. El objetivo de esta guía es establecer recomendaciones prácticas para el diagnóstico, el pronóstico, el seguimiento y el tratamiento de esta enfermedad en España. Material y métodos Se trata de un proyecto colaborativo y multidisciplinar contando con un grupo amplio de profesionales expertos en la materia e incluyendo neurólogos, neuropediatras, neurofisiólogos, genetistas, rehabilitadores y cirujanos ortopédicos. Recomendaciones El diagnóstico de sospecha en CMT es clínico, habitualmente detectando un fenotipo común o clásico. La evaluación clínica se debe seguir de un estudio neurofisiológico adecuado y se establecen recomendaciones concretas sobre los parámetros que deben ser recogidos. El diagnóstico genético debe abordarse secuencialmente; una vez descartada la duplicación del gen PMP22 si corresponde, se recomienda realizar un estudio de secuenciación masiva teniendo en cuenta las limitaciones de las técnicas. No existe tratamiento farmacológico modificador del curso de la enfermedad, si bien es importante el manejo sintomático guiado por un equipo multidisciplinar, así como el adecuado abordaje rehabilitador y ortopédico. Este debe iniciarse precozmente para identificar y mejorar los déficits funcionales del paciente e incluye pautas individualizadas de ejercicio, adaptación ortésica y valoración de cirugías conservadoras como la transposición de tendones. El seguimiento de los pacientes es clínico, no siendo necesario la realización de pruebas complementarias en la práctica clínica habitual.Introduction Charcot-Marie-Tooth (CMT) disease is classified considering the neurophysiological and histological findings, the inheritance pattern and the underlying genetic defect. In recent years, with the advent of next generation sequencing, genetic complexity has increased exponentially, expanding the knowledge about disease pathways, and having an impact in clinical management. The aim of this guide is to offer recommendations for the diagnosis, prognosis, monitoring and treatment of this disease in Spain. Material and methods This consensus guideline has been developed by a multidisciplinary panel encompassing a broad group of professionals including neurologists, neuropediatricians, geneticists, rehabilitators, and orthopedic surgeons. Recommendations The diagnosis is based in the clinical characterization, usually presenting with a common phenotype. It should be followed by an appropriate neurophysiological study that allows for a correct classification, specific recommendations are established for the parameters that should be included. Genetic diagnosis must be approached in sequentially, once the PMP22 duplication has been ruled out if appropriate, a next generation sequencing should be considered taking into account the limitations of the available techniques. To date, there is no pharmacological treatment that modifies the course of the disease, but symptomatic management is important, as are the rehabilitation and orthopedic considerations. The latter should be initiated early to identify and improve the patient's functional impairments, including individualized exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transpositions. The follow-up of patients with CMT is exclusively clinical, ancillary testing are not necessary in routine clinical practice.305290160,5172,9Q3Q2SCIE11,