[Palatal myoclonus associated with myotonic dystrophy type 1]. / Mioclonia palatina asociada a distrofia miotonica de tipo 1.

TITLE: Mioclonia palatina asociada a distrofia miotonica de tipo 1.

[Treatment of relapsing-remitting multiple sclerosis with fingolimod in routine clinical practice]. / Tratamiento de la esclerosis multiple remitente recurrente con fingolimod en la practica clinica habitual.

INTRODUCTION: Fingolimod is a selective immunosuppressant that targets the S1P receptor, and is indicated in the treatment of aggressive relapsing-remitting multiple sclerosis (RRMS) and following treatment failure with first-order drugs. AIM: To investigate the safety and effectiveness of fingolimod under the conditions of routine clinical practice. PATIENTS AND METHODS: We conducted an observational study with prospective follow-up of patients with RRMS who received fingolimod from January 2011 until February 2014. Data assessed were the annualised relapse rate (ARR), disability measured by the Expanded Disability Status Scale (EDSS), magnetic resonance activity and the appearance of side effects. RESULTS: Our sample consisted of 122 patients, 79.5% of them females and with a mean age of 26.8 years. They were classified, according to the last treatment received, as being: naive (aggressive RRMS; n = 17), previous treatment failure (n = 67) and withdrawal of natalizumab due to risk of progressive multifocal leukoencephalopathy (n = 38). After a mean follow-up of 29.9 ± 15.9 months, the ARR and the appearance of new lesions with gadolinium enhancement were reduced in both the naive and the previous treatment failure groups. There were no differences between the various subgroups as regards the progression of EDSS or the time elapsed until the first attack or treatment failure. The risk of treatment failure is higher with a baseline EDSS > 3 (hazard ratio: 4.24; p = 0.001) and presence of IgM oligoclonal bands (hazard ratio: 2.45; p < 0.022). CONCLUSIONS: Fingolimod is an effective and well-tolerated drug under conditions of routine clinical practice. Having a baseline EDSS > 3 and IgM oligoclonal bands is predictive of a poor response to fingolimod.

TITLE: Tratamiento de la esclerosis multiple remitente recurrente con fingolimod en la practica clinica habitual.Introduccion. El fingolimod es un inmunosupresor selectivo dirigido contra el receptor SP-1, indicado en el tratamiento de la esclerosis multiple remitente recurrente (EMRR) agresiva y tras el fracaso del tratamiento con farmacos de primera linea. Objetivo. Investigar la seguridad y efectividad del fingolimod en condiciones de practica clinica habitual. Pacientes y metodos. Estudio observacional con seguimiento prospectivo de pacientes con EMRR que recibieron fingolimod desde enero de 2011 hasta febrero de 2014. Se evaluo la tasa anual de brotes (TAB), la discapacidad medida por la escala expandida del estado de discapacidad (EDSS), la actividad en la resonancia magnetica y la aparicion de efectos adversos. Resultados. Incluimos 122 pacientes, el 79,5% mujeres y con una edad media de 26,8 antilde;os. Se clasificaron segun el ultimo tratamiento recibido en: naive (EMRR agresiva; n = 17), fracaso a terapias previas (n = 67) y retirada de natalizumab por riesgo de leucoencefalopatia multifocal progresiva (n = 38). Tras un seguimiento medio de 29,9 ± 15,9 meses, se redujo de forma significativa la TAB y la aparicion de nuevas lesiones con realce de gadolinio en el grupo naive y el de fracaso a terapias previas. No ha habido diferencias en la evolucion de la EDSS ni en el tiempo hasta el primer brote o el fracaso terapeutico entre los diferentes subgrupos. El riesgo a fracaso terapeutico es mayor con la EDSS basal > 3 (hazard ratio: 4,24; p = 0,001) y presencia de bandas oligoclonales IgM (hazard ratio: 2,45; p < 0,022). Conclusiones. El fingolimod es un farmaco eficaz y seguro en la EMRR en condiciones de practica clinica habitual. Tener una EDSS basal > 3 y bandas oligoclonales IgM predice una mala respuesta al fingolimod.

Afasia secundaria a infarto cerebeloso izquierdo / Aphasia secondary to a left cerebellar infarction

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[Methods for diagnosing seronegative myasthenia gravis]. / Métodos diagnósticos de la miastenia grave seronegativa.

INTRODUCTION: A peculiar feature of seronegative myasthenia gravis is that it presents negative acetylcholine-receptor antibodies; determination of muscle-specific receptor tyrosine kinase (MuSK) antibodies defines a subgroup of patients with generalised myasthenia gravis with certain clinical and neurophysiological peculiarities. DEVELOPMENT: Its diagnosis requires the presence of weakness with fatigability, determination of positive anti-MuSK antibodies and alterations in neurophysiological testing of the neuromuscular junction. It is usually more serious and has a poorer prognosis than the seropositive forms, develops in an acute or subacute manner, and the neurological deficit predominates in the facial, bulbar and respiratory muscles. CONCLUSIONS: Titration of the anti-MuSK antibodies and conducting neurophysiological tests, especially jitter assessment using single-fibre electromyography in clinically deficient muscles, are not only necessary for an early diagnosis of these clinical forms, but also so as to be able to carry out an objective evaluation of the clinical progression and response to treatment.

Métodos diagnósticos de la miastenia grave seronegativa / Methods for diagnosing seronegative myasthenia gravis

La miastenia grave generalizada seronegativa tiene la peculiaridad de presentar anticuerpos contrael receptor de la acetilcolina negativos; sin embargo, la determinación de anticuerpos contra el receptor de tirosincinasa muscular específica (MuSK) define un subgrupo de pacientes con miastenia grave generalizada con peculiaridades desde un punto de vista clínico y neurofisiológico. Desarrollo. Para su diagnóstico, es necesaria la presencia de debilidad con fatiga,determinación de anticuerpos anti-MuSK positivos y pruebas neurofisiológicas de placa neuromuscular alteradas. Suele ser clínicamente más grave y con peor pronóstico que las formas seropositivas, cursa de forma aguda o subaguda y el déficit neurológicopredomina en la musculatura facial, bulbar y respiratoria. Conclusión. La titulación de los anticuerpos anti-MuSK y la realización de pruebas neurofisiológicas, especialmente la valoración del jitter con electromiografía de fibra simple enmúsculos clínicamente deficitarios, no sólo son necesarias para el diagnóstico precoz de estas formas clínicas, sino también para valorar de forma objetiva la evolución clínica y la respuesta al tratamiento

A peculiar feature of seronegative myasthenia gravis is that it presents negative acetylcholine-receptorantibodies; determination of muscle-specific receptor tyrosine kinase (MuSK) antibodies defines a subgroup of patients with generalised myasthenia gravis with certain clinical and neurophysiological peculiarities. Development. Its diagnosis requires the presence of weakness with fatigability, determination of positive anti-MuSK antibodies and alterations in neurophysiological testing of the neuromuscular junction. It is usually more serious and has a poorer prognosis than the seropositive forms, develops in an acute or subacute manner, and the neurological deficit predominates in the facial, bulbar and respiratory muscles. Conclusions. Titration of the anti-MuSK antibodies and conducting neurophysiological tests, especially jitter assessment using single-fibre electromyography in clinically deficient muscles, are not only necessary for an early diagnosis of these clinical forms, but also so as to be able to carry out an objective evaluation of the clinical progression and response to treatment