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

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 orthopaedic 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 orthopaedic considerations. The latter should be initiated early to identify and improve the patient's functional impairments, including individualised 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.

[Steinert's myotonic dystrophy and thromboembolic disease]. / Distrofia miotónica de Steinert y enfermedad tromboembólica.

TITLE: Distrofia miotónica de Steinert y enfermedad tromboembólica.

Complicaciones neurológicas en pacientes críticos por SARS-CoV-2 / Neurological complications in critical patients with COVID-19

INTRODUCCIÓN: Nos proponemos analizar las complicaciones neurológicas de los pacientes con infección grave por SARS-CoV-2 que han requerido ingreso en unidad de cuidados intensivos (UCI). PACIENTES Y MÉTODOS: Estudio descriptivo retrospectivo, observacional, de pacientes consecutivos ingresados en UCI por infección respiratoria grave por SARS-CoV-2 desde el 1 de abril hasta el 1 de junio de 2020. RESULTADOS: Registramos 30 pacientes con síntomas neurológicos, 21 hombres (72,40%), edad media: 57,41 años ± 11,61 desviación estándar (DE). Estancia media en UCI: 18,83 ± 14,33 DE. A nivel sindrómico: 28 pacientes (93,33%) con síndrome confusional agudo, 15 (50%) con patología neuromuscular, 5 (16,66%) con cefalea, 4 (13,33%) con patología cerebrovascular y 4 (13,33%) con encefalopatías/encefalitis. Punción lumbar normal en 6 pacientes (20%). La RMN craneal o TAC craneal mostró alteraciones en 20 casos (66,6%). Se realizó EEG en todos los pacientes (100%), alterado en 8 pacientes (26,66%). En 5 de los 15 pacientes con miopatía clínica se ha podido confirmar con ENMG. Hemos encontrado relación entre la mayor edad y los días de ingreso en UCI (p = 0,002; IC95%: 4,032-6,022; OR: 3,594). CONCLUSIONES: La infección grave por COVID-19 afecta mayoritariamente a hombres, similar a lo descrito en otras series. La mitad de nuestros pacientes presenta una miopatía aguda, y casi la totalidad de los pacientes salen de la UCI con síndromes confusionales agudos que evolucionan a una resolución completa, sin correlacionarse con los resultados del EEG o de pruebas de neuroimagen. La mayor edad se asocia con un mayor número de días de estancia en UCI

INTRODUCTION: We analysed the neurological complications of patients with severe SARS-CoV-2 infection who required intensive care unit (ICU) admission. PATIENTS AND METHODS: We conducted a retrospective, observational, descriptive study of consecutive patients admitted to the ICU due to severe respiratory symptoms secondary to SARS-CoV-2 infection between 1 April and 1 June 2020. RESULTS: We included 30 patients with neurological symptoms; 21 were men (72.40%), and mean age (standard deviation [SD]) was 57.41 years (11.61). The mean duration of ICU stay was 18.83 days (14.33). The neurological conditions recorded were acute confusional syndrome in 28 patients (93.33%), neuromuscular disease in 15 (50%), headache in 5 (16.66%), cerebrovascular disease in 4 (13.33%), and encephalopathies/encephalitis in 4 (13.33%). CSF analysis results were normal in 6 patients (20%). Brain MRI or head CT showed alterations in 20 patients (66.6%). EEG was performed in all patients (100%), with 8 (26.66%) showing abnormal findings. In 5 of the 15 patients with clinical myopathy, diagnosis was confirmed with electroneuromyography. We found a correlation between older age and duration of ICU stay (P = .002; 95%CI: 4.032-6.022; OR: 3,594). CONCLUSIONS: Severe COVID-19 mainly affects men, as observed in other series. Half of our patients presented acute myopathy, and almost all patients left the ICU with acute confusional syndrome, which fully resolved; no correlation was found with EEG or neuroimaging findings. Older age is associated with longer ICU stay

Neurological complications in critical patients with COVID-19. / Complicaciones neurológicas en pacientes críticos por SARS-CoV-2.

INTRODUCTION: We analysed the neurological complications of patients with severe SARS-CoV-2 infection who required intensive care unit (ICU) admission. PATIENTS AND METHODS: We conducted a retrospective, observational, descriptive study of consecutive patients admitted to the ICU due to severe respiratory symptoms secondary to SARS-CoV-2 infection between 1 April and 1 June 2020. RESULTS: We included 30 patients with neurological symptoms; 21 were men (72.40%), and mean age (standard deviation [SD]) was 57.41 years (11.61). The mean duration of ICU stay was 18.83 days (14.33). The neurological conditions recorded were acute confusional syndrome in 28 patients (93.33%), neuromuscular disease in 15 (50%), headache in 5 (16.66%), cerebrovascular disease in 4 (13.33%), and encephalopathies/encephalitis in 4 (13.33%). CSF analysis results were normal in 6 patients (20%). Brain MRI or head CT showed alterations in 20 patients (66.6%). EEG was performed in all patients (100%), with 8 (26.66%) showing abnormal findings. In 5 of the 15 patients with clinical myopathy, diagnosis was confirmed with electroneuromyography. We found a correlation between older age and duration of ICU stay (P=.002; 95%CI: 4.032-6.022; OR: 3,594). CONCLUSIONS: Severe COVID-19 mainly affects men, as observed in other series. Half of our patients presented acute myopathy, and almost all patients left the ICU with acute confusional syndrome, which fully resolved; no correlation was found with EEG or neuroimaging findings. Older age is associated with longer ICU stay.

Actualización en distrofia miotónica tipo 1 del adulto / Adult myotonic dystrophy type 1: an update

La distrofia muscular miotónica tipo 1 (DM1) o enfermedad de Steinert (CIE-9-C: 359.21; CIE-10-ES: G71.11, ORPHA: 273) es una miopatía autosómica dominante de baja prevalencia (<5/10.000) con penetrancia casi completa y daño multiorgánico (neurológico, cardiológico, respiratorio, endocrinológico y digestivo). Es una de las enfermedades humanas con mayor variabilidad clínica. Los síntomas más incapacitantes o molestos para estos enfermos (limitación de la movilidad, cansancio crónico, somnolencia diurna o trastornos digestivos) y sus familias (apatía y falta de iniciativa) no son necesariamente los de peor pronóstico. Las complicaciones respiratorias y los trastornos cardíacos reducen la esperanza de vida de los afectados. No existe tratamiento que modifique su evolución. La función del médico de atención primaria es decisiva en el seguimiento de la DM1, ya sea coordinando a las diferentes especialidades implicadas en el mismo o detectando las complicaciones tratables, en las cuales se centra el presente trabajo

Myotonic dystrophy type 1 (DM1) or Steinert's disease (CIE-9-C: 359.21; CIE-10-ES: G71.11, ORPHA: 273) is a rare autosomal dominant inherited myopathy with almost complete penetrance and multisystemic consequences (neurological, cardiological, respiratory, endocrinological, and gastrointestinal). It is one of the clinical most variable diseases. The most bothersome symptoms for the patients (mobility problems, fatigue, hypersomnia, or gastrointestinal symptoms) and their families (apathy, lack of initiative) are not necessarily the most dangerous. Respiratory problems and cardiac arrhythmias shorten life expectancy. There is no specific treatment. The role of the Primary Care physician is crucial in the follow-up of DM1, either by coordinating the different professionals or detecting treatable complications. This work addresses the latter

[Adult myotonic dystrophy type 1: an update]. / Actualización en distrofia miotónica tipo 1 del adulto.

Myotonic dystrophy type 1 (DM1) or Steinert's disease (CIE-9-C: 359.21; CIE-10-ES: G71.11, ORPHA: 273) is a rare autosomal dominant inherited myopathy with almost complete penetrance and multisystemic consequences (neurological, cardiological, respiratory, endocrinological, and gastrointestinal). It is one of the clinical most variable diseases. The most bothersome symptoms for the patients (mobility problems, fatigue, hypersomnia, or gastrointestinal symptoms) and their families (apathy, lack of initiative) are not necessarily the most dangerous. Respiratory problems and cardiac arrhythmias shorten life expectancy. There is no specific treatment. The role of the Primary Care physician is crucial in the follow-up of DM1, either by coordinating the different professionals or detecting treatable complications. This work addresses the latter.

Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert / Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease

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[Therapeutic drug repositioning and Steinert's disease]. / Reposicionamiento terapéutico y enfermedad de Steinert.

TITLE: Reposicionamiento terapéutico y enfermedad de Steinert.

Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease. / Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert.

BACKGROUND AND OBJECTIVES: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years. This guide tries to establish recommendations for the diagnosis, prognosis, follow-up and treatment of the complications of MD1. MATERIAL AND METHODS: Consensus guide developed through a multidisciplinary approach with a systematic literature review. Neurologists, pulmonologists, cardiologists, endocrinologists, neuropaediatricians and geneticists have participated in the guide. RECOMMENDATIONS: The genetic diagnosis should quantify the number of CTG repetitions. MD1 patients need cardiac and respiratory lifetime follow-up. Before any surgery under general anaesthesia, a respiratory evaluation must be done. Dysphagia must be screened periodically. Genetic counselling must be offered to patients and relatives. CONCLUSION: MD1 is a multisystemic disease that requires specialised multidisciplinary follow-up.

[Neurological complications in critical patients with COVID-19]. / Complicaciones neurológicas en pacientes críticos por SARS-CoV-2.

Introduction: We analysed the neurological complications of patients with severe SARS-CoV-2 infection who required intensive care unit (ICU) admission. Patients and methods: We conducted a retrospective, observational, descriptive study of consecutive patients admitted to the ICU due to severe respiratory symptoms secondary to SARS-CoV-2 infection between 1 April and 1 June 2020. Results: We included 30 patients with neurological symptoms; 21 were men (72.40%), and mean age (standard deviation [SD]) was 57.41 years (11.61). The mean duration of ICU stay was 18.83 days (14.33). The neurological conditions recorded were acute confusional syndrome in 28 patients (93.33%), neuromuscular disease in 15 (50%), headache in 5 (16.66%), cerebrovascular disease in 4 (13.33%), and encephalopathies/encephalitis in 4 (13.33%). CSF analysis results were normal in 6 patients (20%). Brain MRI or head CT showed alterations in 20 patients (66.6%). EEG was performed in all patients (100%), with 8 (26.66%) showing abnormal findings. In 5 of the 15 patients with clinical myopathy, diagnosis was confirmed with electroneuromyography. We found a correlation between older age and duration of ICU stay (P = .002; 95% CI: 4.032-6.022; OR: 3,594). Conclusions: Severe COVID-19 mainly affects men, as observed in other series. Half of our patients presented acute myopathy, and almost all patients left the ICU with acute confusional syndrome, which fully resolved; no correlation was found with EEG or neuroimaging findings. Older age is associated with longer ICU stay.

Captación de raíces anteriores en la neuropatía aguda motora axonal / Contrast uptake by anterior roots in acute motor axonal neuropathy

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[Latency values of 248 H reflexes in 124 normal subjects]. / Valores de latencia de 248 reflejos H en 124 sujetos normales.

INTRODUCTION: The Hoffmann reflex or H reflex is an electrical counterpart of the myotatic reflex. In normal adults is elicited with stimulating the tibial and the median nerves. It is useful as an adjunct study of neuroexamination and assesses the corresponding arc reflexes in their integrity. SUBJECTS AND METHODS: 248 H reflexes were studied stimulating the tibial nerve in 124 healthy subjects. RESULTS: The latency values were: minimum 23.6 ms; maximum 29.8 ms; mean value 27.6 ± 1.41 ms. CONCLUSION: This work explains the technique to obtain the H reflex and discusses the need for normalized values for each neurophysiology lab.

Chemotherapy-induced peripheral neuropathy: clinical features, diagnosis, prevention and treatment strategies

Chemotherapy-induced peripheral neuropathy (CIN) is a common toxicity of anticancer treatment and its incidence is growing. It significantly affects quality of life and is a dose-limiting factor that interferes with treatment. Its diagnosis can be established in clinical terms but some complementary tests can help when the diagnosis is difficult. There is still no proven method to prevent it that has become a standard of care in spite of the huge amount of investigation carried out in recent years. There are promising strategies that could help reduce the burden of this complication. This review will suggest an approach to the diagnosis of these disorders and provide an update on new therapies (AU)

[Meralgia paraesthetica: a report on a series of 140 cases]. / Meralgia parestésica: a propósito de una serie de 140 casos.

INTRODUCTION: Meralgia paraesthetica is a pathology that is frequently seen in visits to extra-hospital neurology services. Nevertheless, the diagnosis, treatment and prognosis of this condition remain somewhat unclear. PATIENTS AND METHODS: A retrospective study was conducted involving 140 patients. Data were collected concerning demographic aspects, clinical picture, diagnostic study, aetiology, treatment and progression. RESULTS: There was a predominance of males, with a mean age of 54 years. The mean follow-up time was 25 months. The symptoms that were reported were as follows: numbness, burning pain, tingling or prickling in the nerve territory. Hypaesthesia was the most frequent sign found in the examination. History of another compressive neuropathy was present in 13.6% of patients. The diagnosis was based on the patient record and the neurological examination. The neurophysiological study and complementary tests were reserved for atypical cases. The most common causation was spontaneous and only three cases were found to be secondary to a structural lesion. A third of the patients were receiving pharmacological treatment. Although the clinical picture was benign, in most cases it tended to become chronic. Patients treated pharmacologically did not show a significant improvement in comparison to those who were not given treatment. The most important data for forecasting improvement of the clinical picture were the identification and correction of the factors precipitating compression of the nerve. CONCLUSIONS: Meralgia paraesthetica is a frequent, benign pathology but with a tendency to become chronic that responds poorly to pharmacological treatment. It is important to identify and correct mechanical factors and only in exceptional cases is it secondary to a structural lesion.

Meralgia parestésica: a propósito de una serie de 140 casos / Meralgia Paraesthetca: a report on a series of 140 cases

Introducción. La meralgia parestésica es una patología frecuente en la consulta de neurología extrahospitalaria. Apesar de ello, el diagnóstico, tratamiento y pronóstico de este cuadro no están bien establecidos. Pacientes y métodos. Estudioretrospectivo de 140 pacientes. Se recogen datos demográficos, clínica, estudio diagnóstico, etiología, tratamiento y evolución.Resultados. Hubo un predominio masculino, con una mediana de 54 años. El seguimiento medio fue de 25 meses. Lossíntomas narrados fueron: acorchamiento, dolor urente, hormigueo o pinchazos en el territorio nervioso. En la exploración sehalló hipoestesia como signo más frecuente. Hubo historia de otra neuropatía compresiva en el 13,6%. El diagnóstico se basóen la historia clínica y la exploración neurológica. El estudio neurofisiológico y las pruebas complementarias se reservaronpara casos atípicos. La etiología más frecuente fue la espontánea, y se hallaron sólo tres casos secundarios a lesión estructural.Un tercio de los pacientes recibió tratamiento farmacológico. Aunque el cuadro fue benigno, en la mayoría tendióa cronificarse. Los pacientes tratados farmacológicamente no mostraron una mejoría significativa frente a los que no recibierontratamiento. El dato pronóstico más importante para la mejoría del cuadro fue la identificación y corrección de los factoresdesencadenantes de compresión del nervio. Conclusiones. La meralgia parestésica es una patología frecuente, benigna,pero con tendencia a cronificarse, en la que es importante identificar y corregir factores mecánicos, con pobre respuesta altratamiento farmacológico, y sólo en casos excepcionales secundaria a lesión estructural (AU)

Introduction. Meralgia paraesthetica is a pathology that is frequently seen in visits to extra-hospital neurologyservices. Nevertheless, the diagnosis, treatment and prognosis of this condition remain somewhat unclear. Patients andmethods. A retrospective study was conducted involving 140 patients. Data were collected concerning demographic aspects,clinical picture, diagnostic study, aetiology, treatment and progression. Results. There was a predominance of males, with amean age of 54 years. The mean follow-up time was 25 months. The symptoms that were reported were as follows: numbness,burning pain, tingling or prickling in the nerve territory. Hypaesthesia was the most frequent sign found in the examination.History of another compressive neuropathy was present in 13.6% of patients. The diagnosis was based on the patient recordand the neurological examination. The neurophysiological study and complementary tests were reserved for atypical cases. Themost common causation was spontaneous and only three cases were found to be secondary to a structural lesion. A third of thepatients were receiving pharmacological treatment. Although the clinical picture was benign, in most cases it tended to becomechronic. Patients treated pharmacologically did not show a significant improvement in comparison to those who were not giventreatment. The most important data for forecasting improvement of the clinical picture were the identification and correction ofthe factors precipitating compression of the nerve. Conclusions. Meralgia paraesthetica is a frequent, benign pathology butwith a tendency to become chronic that responds poorly to pharmacological treatment. It is important to identify and correctmechanical factors and only in exceptional cases is it secondary to a structural lesion. (AU)

[A retrospective study comparing two formulations of valproic acid]. / Estudio retrospectivo comparando dos formulaciones de ácido valproico.

INTRODUCTION: Valproic acid is available in two different presentations, Depakine and Depakine Crono. Equivalences in plasmatic levels, efficacy and adverse effects between these two formulations are not fully established. AIM: To compare plasmatic levels, efficacy and plasmatic levels between Depakine and Depakine Crono. PATIENTS AND METHODS: We studied a retrospective series of 238 patients in treatment with Depakine or Depakine Crono and compared plasmatic levels, efficacy and adverse effects between both formulations. RESULTS: A total of 173 patients had taken one formulation and 54 both. Plasmatic levels were similar in both groups. There were more significantly more patients free of seizures among the Depakine Crono group. Significantly better outcomes were seen with Depakine Crono with respect to secondary effects. Adverse effects are significantly less frequent in men than in women. The higher the dose, the higher the incidence of adverse events. CONCLUSIONS: Depakine Crono seems to obtain similar plasmatic levels, is at least as efficacious and is associated with less adverse events that Depakine.

Estudio retrospectivo comparando dos formulaciones de ácido valproico / A retrospective study comparing two formulations of valproic acid

Introducción. El ácido valproico se presenta en dos formulaciones orales, Depakine ® (DP) y Depakine Crono ® (DPC).Existen dudas sobre la equivalencia de los niveles plasmáticos, la eficacia y los efectos secundarios de estas dos formulaciones. Objetivo. Comparar los niveles plasmáticos, la eficacia y los efectos secundarios de pacientes que toman una de las dos formulaciones orales en comprimidos de valproico disponibles en España. Pacientes y métodos. Estudio retrospectivo sobre un total de 238 episodios de pacientes que tomaban DP y DPC, que recoge datos sobre niveles plasmáticos, eficacia en el control de las crisis y la incidencia de los efectos secundarios y los compara por subgrupos de dosis, edad y sexo. Resultados. Un total de 173 pacientes había tomado una formulación y 54 ambas. Los niveles plasmáticos fueron similares en ambos grupos. En la población total el número de pacientes libres de crisis que tomaron DPC es significativamente mayor que con DP. El porcentaje de pacientes que sufren efectos secundarios es significativamente menor con DPC. La incidencia de efectos secundarios es significativamente menor en los varones que en las mujeres. A mayor dosis de medicación, mayor incidencia de efectos adversos. Conclusiones. DPC parece obtener niveles plasmáticos similares, es al menos tan eficaz y tiene un mejor perfil de inocuidad que DP (AU)

Introduction. Valproic acid is available in two different presentations, Depakine ® and Depakine Crono ®. Equivalences in plasmatic levels, efficacy and adverse effects between these two formulations are not fully established. Aim. To compare plasmatic levels, efficacy and plasmatic levels between Depakine and Depakine Crono. Patients and methods. We studied aretrospective series of 238 patients in treatment with Depakine or Depakine Crono and compared plasmatic levels, efficacy and adverse effects between both formulations. Results. A total of 173 patients had taken one formulation and 54 both. Plasmaticlevels were similar in both groups. There were more significantly more patients free of seizures among the Depakine Cronogroup. Significantly better outcomes were seen with Depakine Crono with respect to secondary effects. Adverse effects are significantly less frequent in men than in women. The higher the dose, the higher the incidence of adverse events. Conclusions. Depakine Crono seems to obtain similar plasmatic levels, is at least as efficacious and is associated with less adverse events that Depakine (AU)