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

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.

Epidemiology and characteristics of ischaemic stroke in young adults in Aragon.

INTRODUCTION: Stroke affects around 15 million people per year, with 10%-15% occurring in individuals under 50 years old (stroke in young adults). The prevalence of different vascular risk factors and healthcare strategies for stroke management vary worldwide, making the epidemiology and specific characteristics of stroke in each region an important area of research. This study aimed to determine the prevalence of different vascular risk factors and the aetiology and characteristics of ischaemic stroke in young adults in the autonomous community of Aragon, Spain. METHODS: A cross-sectional, multi-centre study was conducted by the neurology departments of all hospitals in the Aragonese Health Service. We identified all patients aged between 18 and 50 years who were admitted to any of these hospitals with a diagnosis of ischaemic stroke or TIA between January 2005 and December 2015. Data were collected on demographic variables, vascular risk factors, and type of stroke, among other variables. RESULTS: During the study period, 786 patients between 18 and 50 years old were admitted with a diagnosis of ischaemic stroke or TIA to any hospital of Aragon, at a mean annual rate of 12.3 per 100 000 population. The median age was 45 years (IQR: 40-48 years). The most prevalent vascular risk factor was tobacco use, in 404 patients (51.4%). The majority of strokes were of undetermined cause (36.2%), followed by other causes (26.5%). The median NIHSS score was 3.5 (IQR: 2.0-7.0). In total, 211 patients (26.8%) presented TIA. Fifty-nine per cent of the patients admitted with a diagnosis of ischaemic stroke (10.3%) were treated with fibrinolysis. CONCLUSIONS: Ischaemic stroke in young adults is not uncommon in Aragon, and is of undetermined aetiology in a considerable number of cases; it is therefore necessary to implement measures to improve study of the condition, to reduce its incidence, and to prevent its recurrence.

Three-month functional prognosis of patients hospitalised due to acute ischaemic stroke in Aragon: regional analysis of the impact of COVID-19.

INTRODUCTION: The COVID-19 pandemic has had an impact on ischaemic stroke management, with a reported decrease in hospital admissions, and even disruptions in healthcare and increased in-hospital mortality. However, there is a lack of evidence on the impact of the pandemic on functional prognosis. The aim of this study is to analyse the effect of the COVID-19 pandemic on the 3-month functional outcomes of patients hospitalised due to acute ischaemic stroke in Aragon (Spain). METHODS: We reviewed the data of all patients admitted due to ischaemic stroke to any hospital in our regional healthcare system between 30 December 2019 and 3 May 2020. We compared modified Rankin Scale scores and mortality at 3 months in patients hospitalised before and after the declaration of a state of emergency due to the COVID-19 pandemic. RESULTS: In total, 318 patients with acute ischaemic stroke met our inclusion criteria. No differences were observed between periods in global or specific characteristics, with the exception of a higher proportion of patients older than 80 years during the first period (42.2% vs 29.0%, P = .028). In the comparative analysis, we found no significant differences in mortality (12.3 vs 7.9, P = .465) or in the proportion of patients with modified Rankin Scale scores ≤ 2 (57.7% vs 57.1%, P = .425) at 3 months. CONCLUSION: To our knowledge, this is the first study to analyse the impact of COVID-19 pandemic on the 3-month functional outcomes of patients with ischaemic stroke. In our region, there has been no increase in rates of mortality or disability at 3 months in patients admitted due to ischaemic stroke during the pandemic.

[Three-month functional prognosis of patients hospitalised due to acute ischaemic stroke in Aragon: Rregional analysis of the impact of COVID-19]. / Pronóstico funcional a 3 meses de pacientes hospitalizados por ictus isquémico agudo en Aragón: análisis regional de la repercusión de la COVID-19.

Introduction: The COVID-19 pandemic has had an impact on ischaemic stroke management, with a reported decrease in hospital admissions, and even disruptions in healthcare and increased in-hospital mortality. However, there is a lack of evidence on the impact of the pandemic on functional prognosis. The aim of this study is to analyse the effect of the COVID-19 pandemic on the 3-month functional outcomes of patients hospitalised due to acute ischaemic stroke in Aragon (Spain). Materil and methods: We reviewed the data of all patients admitted due to ischaemic stroke to any hospital in our regional healthcare system between 30 December 2019 and 3 May 2020. We compared modified Rankin Scale scores and mortality at 3 months in patients hospitalised before and after the declaration of a state of emergency due to the COVID-19 pandemic. Results: In total, 318 patients with acute ischaemic stroke met our inclusion criteria. No differences were observed between periods in global or specific characteristics, with the exception of a higher proportion of patients older than 80 years during the first period (42.2% vs. 29.0%, P=.028). In the comparative analysis, we found no significant differences in mortality (12.3 vs. 7.9, P=.465) or in the proportion of patients with modified Rankin Scale scores ≤ 2 (57.7% vs. 57.1%, P=.425) at 3 months. Conclusion: To our knowledge, this is the first study to analyse the impact of COVID-19 pandemic on the 3-month functional outcomes of patients with ischaemic stroke. In our region, there has been no increase in rates of mortality or disability at 3 months in patients admitted due to ischaemic stroke during the pandemic.

Epidemiology and characteristics of ischaemic stroke in young adults in Aragon. / Epidemiología y características del ictus isquémico en el adulto joven en Aragón.

INTRODUCTION: Stroke affects around 15 million people per year, with 10%-15% occurring in individuals under 50 years old (stroke in young adults). The prevalence of different vascular risk factors and healthcare strategies for stroke management vary worldwide, making the epidemiology and specific characteristics of stroke in each region an important area of research. This study aimed to determine the prevalence of different vascular risk factors and the aetiology and characteristics of ischaemic stroke in young adults in the autonomous community of Aragon, Spain. METHODS: A cross-sectional, multi-centre study was conducted by the neurology departments of all hospitals in the Aragonese Health Service. We identified all patients aged between 18 and 50 years who were admitted to any of these hospitals with a diagnosis of ischaemic stroke or TIA between January 2005 and December 2015. Data were collected on demographic variables, vascular risk factors, and type of stroke, among other variables. RESULTS: During the study period, 786 patients between 18 and 50 years old were admitted with a diagnosis of ischaemic stroke or TIA to any hospital of Aragon, at a mean annual rate of 12.3 per 100 000 population. The median age was 45 years (IQR: 40-48 years). The most prevalent vascular risk factor was tobacco use, in 404 patients (51.4%). The majority of strokes were of undetermined cause (36.2%), followed by other causes (26.5%). The median NIHSS score was 3.5 (IQR: 2.0-7.0). In total, 211 patients (26.8%) presented TIA. Fifty-nine per cent of the patients admitted with a diagnosis of ischaemic stroke (10.3%) were treated with fibrinolysis. CONCLUSIONS: Ischaemic stroke in young adults is not uncommon in Aragon, and is of undetermined aetiology in a considerable number of cases; it is therefore necessary to implement measures to improve study of the condition, to reduce its incidence, and to prevent its recurrence.

Stroke care programme in Aragon (PAIA): strategy and outcomes for the period 2009-2014. / Programa de Atención al Ictus en Aragón (PAIA). Estrategia del cambio y resultados en el periodo 2009-2014.

INTRODUCTION: In 2008, stroke mortality, morbidity, and disability rates in Aragon were higher than the average in Spain. These data underscored the need to develop a stroke care programme (PAIA). MATERIAL AND METHODS: We present the dynamics of planning, implementation, evaluation, and improvement developed between 2009 and 2014 as well as the results of the PAIA after that 5-year period. RESULTS: Structure, processes, and outcomes have improved with reference to the key indicators of healthcare (audit: 2008, 2010, 2012) among others: stroke rate in 2013 was 2.07 (2.36 in 2008); 78% of strokes were managed in stroke units in 2014 (30% in 2008); rate of fibrinolysis was 8.3% in 2014 (4.4% in 2010); fibrinolysis was administered in secondary hospitals (30% of the total); fibrinolysis was administered by Telestroke in 9%; stroke mortality decreased (38%); 67.7 years of potential life lost (YPLL) in 2013 (144 in 2008); nurse training; development of neurosonology; networking; sharing protocols and best practices between health sectors, etc. CONCLUSIONS: Integrated process management and multidisciplinary teams distributed and deployed over an entire territory with established protocols, references, evaluations, and continuous development, have been proven powerful tools to ensure both quality and equality. The PAIA is a good example of clinical governance and networking due to its dynamic and sustained improvement and cooperation between clinicians.

Trends in stroke hospitalisation rates and in-hospital mortality in Aragon, 1998-2010. / Tendencia de las tasas de hospitalización y de letalidad hospitalaria de la enfermedad cerebrovascular aguda en Aragón en el periodo 1998-2010.

INTRODUCTION: Despite the impact of cerebrovascular disease (CVD) on global health, its morbidity and time trends in Spain are not precisely known. OBJECTIVE: The purpose of our study was to characterise the epidemiology and trends pertaining to stroke in Aragon over the period 1998-2010. METHODS: We conducted a retrospective, descriptive study using the data of the Spanish health system's Minimum Data Set and included all stroke patients admitted to acute care hospitals in Aragon between 1 January 1998 and 31 December 2010. We present data globally and broken down by stroke subtype, sex, and age group. RESULTS: The number of cases increased by 13% whereas age- and sex-adjusted hospitalisation rates showed a significant decrease for all types of stroke (mean annual decrease of 1.6%). Men and women in younger age groups showed opposite trends in hospitalisation rates for ischaemic stroke. Case fatality rate at 28 days (17.9%) was higher in patients with intracerebral haemorrhage (35.8%) than in those with subarachnoid haemorrhage (26.2%) or ischaemic stroke (13%). CVD case fatality showed a mean annual decline of 2.8%, at the expense of the fatality rate of ischaemic stroke, and it was more pronounced in men than in women. DISCUSSION: Understanding stroke epidemiology and trends at the regional level will help establish an efficient monitoring system and design appropriate strategies for health planning.

[Auditing as a tool for ongoing improvement in the Stroke Care Plan of the Region of Aragon]. / El audit como herramienta de mejora continua en el Plan de Atencion al Ictus de Aragon.

INTRODUCTION: The Aragon Stroke Care Plan (PAIA) was created in 2008 within the framework of the Spanish National Health System. Monitoring hospital care of strokes by means of periodic audits was defined as one of its lines of work. AIM: To determine the quality of the hospital care process for stroke patients in Aragon by using quality indicators. MATERIALS AND METHODS: Three audits were carried out (in the years 2008, 2010 and 2012) following the same methodology, based on the retrospective review of a representative sample of admissions due to stroke in each of the general hospitals belonging to the Aragonese Health Service. Information was collected on 48 indicators selected according to their scientific evidence or clinical relevance. RESULTS: Altogether 1011 cases were studied (331 in the first audit, and 340 in the second and the third). Thirty-one indicators showed a significant improvement (some of the most notable being the indicators of quality of the medical record, neurological assessment, initial preventive measures and, especially relevant, performing the swallowing test), two underwent a decline in their condition (related with rehabilitation treatment) and 15 did not register any significant variation. CONCLUSIONS: The implementation of the PAIA has given rise to a notable improvement in most of the quality indicators evaluated, which reflects an ongoing improvement in hospital stroke care. The progressive generalisation of specialised care and the creation of stroke units are some of the determining factors.

TITLE: El audit como herramienta de mejora continua en el Plan de Atencion al Ictus de Aragon.Introduccion. El Plan de Atencion al Ictus de Aragon (PAIA) se creo en 2008 en el marco de la Estrategia Nacional en Ictus del Sistema Nacional de Salud. La monitorizacion de la atencion hospitalaria al ictus mediante auditorias periodicas se definio como una de sus lineas de trabajo. Objetivo. Determinar la calidad del proceso asistencial hospitalario prestado al paciente con ictus en Aragon mediante el uso de indicadores de calidad. Materiales y metodos. Se realizaron tres audits (en los años 2008, 2010 y 2012) siguiendo la misma metodologia, basada en la revision retrospectiva de una muestra representativa de ingresos por ictus en cada uno de los hospitales generales del Servicio Aragones de Salud. Se recogio informacion sobre 48 indicadores seleccionados segun su evidencia cientifica o relevancia clinica. Resultados. Se estudiaron 1.011 casos (331 en el primer audit, y 340 en el segundo y en el tercero). Treinta y un indicadores presentaron una mejoria significativa (entre ellos destacan los indicadores de calidad de la historia clinica, de evaluacion neurologica, las medidas preventivas iniciales y, con especial relevancia, la realizacion de test de deglucion), dos sufrieron empeoramiento (relacionados con el tratamiento rehabilitador) y 15 no registraron variaciones significativas. Conclusiones. La implantacion del PAIA ha supuesto una mejoria notable en la mayoria de los indicadores de calidad evaluados, reflejo de una mejora continua en la atencion hospitalaria del ictus. La generalizacion progresiva de la atencion especializada y la creacion de las areas de ictus son algunos de los factores determinantes.

[Pseudoballism secondary to spinal trauma]. / Seudobalismo secundario a traumatismo medular.

INTRODUCTION: Ballism is a rare movement disorder that presents with violent and wide amplitude flinging movements of the limbs, mainly caused by injury in the contralateral subthalamic nucleus or its afferent or efferent connections. CLINICAL CASE: We describe the case of a 50-year old male who had ballistic movements after a cervical trauma. He subsequently developed choreoathetoid movements and a distonic attitude in the left upper limb later. A C2-C3 sensory level and proprioceptive loss in this limb were the main findings in the examination. The cervical magnetic resonance showed a transverse linear spinal lesion at C1 level that affected most of its section. CONCLUSIONS: This case stands outs because of the wide abnormal movements spectrum secondary to spinal proprioceptive pathway injury: ballistic, choreoathetoid, and distonic movements. Choreoathetoid movements occurring in association with loss of propioception have been called pseudochoreoathetosis. We propose the term pseudoballism to define the movements that were observed during the acute phase in this patient.