[Neuropsychological profile in patients with myotonic dystrophy type 1: a four-year follow-up study]. / Perfil neuropsicológico en pacientes con distrofia miotónica tipo 1: estudio de seguimiento a cuatro años.

INTRODUCTION: Myotonic dystrophy type 1 (MD1), or Steinert's disease, is a multisystemic disorder of autosomal dominant inheritance, whose adult variant usually presents with multidomain cognitive impairment and affects patients' functionality and quality of life. AIM: To study the four-year history of cognitive functioning in a sample of patients with the adult variant of MD1. PATIENTS AND METHODS: The neurocognitive functions of a sample of 31 patients with MD1 are evaluated, of whom 24 repeat the test administered four years ago in the Neurology Service of the Complejo Hospitalario of Navarra. Data are collected from the cognitive domains that are most related to the deficits that usually present in MD1. RESULTS: The follow-up evaluation found that the visuospatial and visuoconstructive functions and alternating attention of the patients who underwent the study were affected, as was their daily functioning reported by the family. These results are in line with those obtained four years earlier, with no significant deterioration observed between the two measurements. A higher incidence of cognitive impairment was also displayed in 2018, with some cases of progression to dementia in Steinert's disease. CONCLUSION: Neurocognitive progression in MD1 seems to respond to a progressive pattern of degeneration, linked to the functions that are most affected from the beginning of the sequelae phase and which usually correspond to the domains of working memory, alternating attention, and visuospatial and visuoconstructive abilities.

TITLE: Perfil neuropsicológico en pacientes con distrofia miotónica tipo 1: estudio de seguimiento a cuatro años.Introducción. La distrofia miotónica tipo 1 (DM1), o enfermedad de Steinert, es un trastorno multisistémico de herencia autosómica dominante, cuya variante adulta suele cursar con deterioro cognitivo multidominio y afectación de la funcionalidad y la calidad de vida de los pacientes. Objetivo. Estudiar la evolución a cuatro años del funcionamiento cognitivo de una muestra de pacientes con la variante adulta de DM1. Pacientes y métodos. Se evalúan las funciones cognitivas de una muestra de 31 pacientes con DM1, de los cuales 24 repiten la evaluación administrada hace cuatro años en el Servicio de Neurología del Complejo Hospitalario de Navarra. Se recogen datos de los dominios neurocognitivos más relacionados con los déficits de presentación habitual en la DM1. Resultados. La evaluación de seguimiento constató la afectación de las funciones visuoespaciales y visuoconstructivas y de la atención alternante de los pacientes que se sometieron al estudio, así como de su funcionamiento cotidiano informado por la familia. Estos resultados están en línea con los obtenidos cuatro años atrás, sin que se haya objetivado un deterioro significativo entre ambas mediciones. Se demuestra, además, una mayor incidencia de deterioro cognitivo en 2018, con algunos casos de evolución a demencia en la enfermedad de Steinert. Conclusión. La evolución neuropsicológica en la DM1 parece responder a un patrón progresivo, ligado a las funciones que más se afectan desde los inicios de la fase de secuelas y que suelen corresponder a los dominios de memoria de trabajo, atención alternante y habilidades visuoespaciales y visuoconstructivas.

Hiperintensidad en la región anterior de los lóbulos temporales en la enfermedad de Fabry / Hyperintensity in the anterior region of the temporal lobes in Fabry's disease

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Ictus, ácido tranexámico y foramen oval permeable / Stroke, tranexamic acid and patent foramen ovale

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Aplicación del test del hielo en el diagnóstico de la miastenia gravis / Use of the ice test for diagnosis of myasthenia gravis

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[Discontinuation of anti-epileptic drugs]. / Supresión de fármacos antiepilépticos.

OBJECTIVE: It is well known that in the long term most patients achieve/gain control over their epileptic crises and the morbidity associated with chronic anti-epileptic drug treatment. We have tried to review the criteria for discontinuation of such treatment and evaluate drug toxicity and the risks of discontinuation. DEVELOPMENT: It is correctly accepted that 70-80% of all epileptic patients experience remission of the disorder, in most cases easily. The greatest risk of recurrence after discontinuation of treatment is during the first year (25-30%). The most important factors to consider with regard to the risk of recurrence are: the age at onset (in nearly all the series studied there was less risk of recurrence when onset occurred before the age of 12, aetiology (greater risk in symptomatic than in idiopathic crises) and EEG (there is a greater risk when focal slowing or bilateral paroxystic activity is seen). CONCLUSIONS: The ideal type of patient in whom to discontinue anti-epileptic drugs is a patient who has been free of crises for two years whilst being treated, only one type of crisis present which as always been well controlled, normal neurological examination and IQ, idiopathic epilepsy (except for juvenile myoclonic epilepsy) and with normalization of the EEG whilst on treatment. The decision to discontinue treatment should be made jointly with the patient, especially when adult, regarding fundamental aspects such as driving vehicles and the problem of work and/or loss of a job.