Introduction: Duchenne muscular dystrophy (DMD) is an inherited, X-linked neuromuscular disorder with a global cumulative prevalence of 7.1 cases every 100 000 males. A relationship between consanguinity and DMD has been reported. We aimed to describe the prevalence and the sociodemographic, clinical and genetic characteristics of patients with DMD in an isolated population in Tafi del Valle (Tucum & aacute;n, Argentina). Materials and methods: Cross-sectional, descriptive, epidemiological study. Demographic, clinical and genetic data were retrieved from medical records. Pedigree charts were made after an interview with the family group. Results: Seven male patients with DMD of Diaguita-Calchaqui ethnicity were identified (median age: 14 years old), with a prevalence of 0.12%. Five different mutations were reported. No consanguinity was identified in pedigree charts. Discussion: An unusual high prevalence of DMD was identified in Tafi del Valle. . In addition, there are 5 different mutations in seven patients suggesting a high number of mutations "de novo".

Background: Most Multiple Sclerosis (MS) clinical trials fail to assess the long-term effects of disease-modifying therapies (DMT) or disability. Methods: COLuMbus was a single-visit, cross-sectional study in Argentina in adult patients with >= 10 years of MS since first diagnosis. The primary endpoint was to determine patient disability using the Expanded Disability Status Scale (EDSS). The secondary endpoints were to evaluate the distribution of diagnoses between relapsingremitting MS (RRMS) and secondary progressive MS (SPMS), patient demographics, disease history, and the risk of disability progression. The relationship between baseline characteristics and the current disability state and the risk of disability progression was assessed. Results: Out of the 210 patients included, 76.7 % had a diagnosis of RRMS and 23.3 % had been diagnosed with SPMS, with a mean disease duration of 17.9 years and 20.5 years, respectively. The mean delay in the initial MS diagnosis was 2.6 years for the RRMS subgroup and 2.8 years for the SPMS subgroups. At the time of cut-off (28May2020), 90.1 % (RRMS) and 75.5 % (SPMS) of patients were receiving a DMT, with a mean of 1.5 and 2.0 prior DMTs, respectively. The median EDSS scores were 2.5 (RRMS) and 6.5 (SPMS). In the RRMS and SPMS subgroups, 23 % and 95.9 % of patients were at high risk of disability, respectively; the time since first diagnosis showed a significant correlation with the degree of disability. Conclusions: This is the first local real-world study in patients with long-term MS that highlights the importance of recognizing early disease progression to treat the disease on time and delay disability.

IntroducciónEl desarrollo de nuevos síntomas como aparición o aumento de debilidad, dolor, atrofia y fatiga musculares, décadas después de haber padecido poliomielitis anterior aguda se conoce como síndrome pospolio (SPP). En Argentina no existen datos sobre su prevalencia.ObjetivosDeterminar la afectación y las secuelas de los pacientes sobrevivientes de poliomielitis en Argentina. Identificar y caracterizar pacientes con SPP.MétodosEstudio descriptivo de corte transversal que incluyó a 698 pacientes de diferentes provincias de Argentina con antecedentes de poliomielitis, entre 2019 y 2022. Se realizaron encuestas on-line y telefónicas acerca de variables socioeconómicas, edad de diagnóstico de polio, síntomas de SPP, estudios diagnósticos y tratamiento. Los participantes fueron convocados a participar voluntariamente a través de redes sociales, afiches y listas de correos de asociaciones que nuclean a individuos que presentaron poliomielitis anterior aguda.ResultadosLa mayoría de los encuestados había padecido polio entre los 1 y 3 años (media 1,48). El SPP se observó en el 61,8% de los casos. Los síntomas de SPP refirieron mayor debilidad (89%), dolor muscular (77%), trastornos del sueño (76%) y fatiga (8%). La edad media de inicio de síntomas fue de 50 años. La mayoría de ellos refirió dificultades para recibir diagnóstico y tratamiento apropiado. El diagnóstico de SPP fue significativamente más frecuente en las mujeres (60,04%) con respecto a los varones (39,95%) (p=0,000).ConclusionesEl 61,8% de los sobrevivientes de polio en Argentina presenta SPP. Reconocer el SPP y su prevalencia ayudará a planear políticas públicas dirigidas a un diagnóstico y tratamiento adecuados.

Abstract In the context of the global vaccination campaign against COVID-19, several cases of postvaccinal Guillain–Barré syndrome (GBS) were reported. Whether a causal relationship exists between these events has yet to be established. We investigated the clinical and electromyographic characteristics of patients who developed GBS after COVID-19 vaccination and compare these with findings in patients with GBS, without a history of recent vaccination. We included 91 cases between March 2020 and March 2022, treated at 10 referral hospitals of Buenos Aires, Argentina. Of these, 46 had received vaccination against COVID-19 within the previous month. Although Medical Research Council sum-scores were similar in both groups (median 52 vs. 50; P = 0.4), cranial nerve involvement was significantly more frequent in the postvaccination group (59% vs. 38%; P = 0.02), as was bilateral facial paralysis (57% vs. 24%; P = 0.002). No differences were found in clinical or neurophysiological phenotypes, although 17 subjects presented the variant of bilateral facial palsy with paresthesias (11 vs. 6; P = 0.1); nor were significant differences observed in length of hospital stay or mortality rates. Future vaccine safety monitoring and epidemiology studies are essential to demonstrate any potential causal relationship between these events.

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COVID-19 disease has spread around the world since December 2019. Neurological symptoms are part of its clinical spectrum. Objective: To know the neurological manifestations in patients infected by COVID-19 in Argentina. Methods: Multicenter study conducted in adults, from May 2020 to January 2021, with confirmed COVID-19 and neurological symptoms. Demographic variables, existence of systemic or neurological comorbidities, the form of onset of the infection, alteration in complementary studies and the degree of severity of neurological symptoms were recorded. Results: 817 patients from all over the country were included, 52% male, mean age 38 years, most of them without comorbidities or previous neurological pathology. The first symptom of the infection was neurological in 56.2% of the cases, predominantly headache (69%), then anosmia / ageusia (66%). Myalgias (52%), allodynia / hyperalgesia (18%), and asthenia (6%) were also reported. 3.2% showed diffuse CNS involvement such as encephalopathy or seizures. 1.7% had cerebrovascular complications. Sleep disorders were observed in 3.2%. 6 patients were reported with Guillain Barre (GBS), peripheral neuropathy (3.4%), tongue paresthesia (0.6%), hearing loss (0.4%), plexopathy (0.3%). The severity of neurological symptoms was correlated with age and the existence of comorbidities. Conclusions: Our results, similar to those of other countries, show two types of neurological symptoms associated with COVID-19: some potentially disabling or fatal such as GBS or encephalitis, and others less devastating, but more frequent such as headache or anosmia that demand increasingly long-term care.

Monday, April 27April 14, 2020Free AccessAmyotrophic Lateral Sclerosis (ALS) patients experience with Edaravone in Argentina (1693)Cecilia Quarracino, Mariana Bendersky, Natalia Bohorquez Morera, Roberto Rey, and Gabriel RodriguezAuthors Info & AffiliationsApril 14, 2020 issue94 (15_supplement)https://doi.org/10.1212/WNL.94.15_supplement.1693 Letters to the Editor

La esclerosis lateral amiotrófica (ELA) es una enfermedad neurodegenerativa de causa desconocida, caracterizada por el compromiso simultáneo de las neuronas motoras superior e inferior. Los estudios epidemiológicos han estimado su incidencia anual entre 0,31 y 3,2, y su prevalencia entre 0,8 y 8,5 casos por 100.000 habitantes. La información epidemiológica existente en nuestro país es limitada a centros especializados. El presente trabajo presenta los resultados de un estudio epidemiológico en ELA realizado en la Ciudad Autónoma de Buenos Aires (CABA). Se llevó a cabo un estudio multicéntrico retrospectivo. Se incluyeron pacientes con ELA definida y probable de acuerdo con criterios de El Escorial, evaluados entre el 1 de enero de 2012 y el 31 de diciembre de 2013, que vivían en la CABA al inicio de los síntomas. El cálculo de incidencia se basó en el censo de 2010. Se incluyeron 103 pacientes (55 hombres), con una edad media de 64 años. El 58% cumplieron criterios para la ELA definida. El inicio de los síntomas fue en miembros inferiores en el 39%, extremidades superiores en el 25% y bulbar en el 26%. El tiempo medio hasta el diagnóstico fue de 14,5 meses. Treinta nuevos casos/pacientes fueron diagnosticados entre el 01/06/2012 y el 01/06/2013, con una tasa de incidencia de 1,04 por 100.000 habitantes. Las características epidemiológicas de la ELA en la CABA son similares a las reportadas en la literatura. Son necesarios estudios más amplios para determinar si estos hallazgos son aplicables al resto de la población argentina. Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease of unknown cause, characterized by the simultaneous involvement of the upper and lower motor neurons. Epidemiological studies have estimated its annual incidence between 0.31 and 3.2 and its prevalence between 0.8 and 8.5 cases per 100,000 inhabitants. The epidemiological information in our country is limited to specialized centers. The present study presents the results of an epidemiological study in ELA performed in the Autonomous City of Buenos Aires (CABA). A multicentric retrospective study was conducted. Patients with defined and probable ALS according to the El Escorial Criteria, evaluated between January 1, 2012 and December 31, 2013, who lived in the CABA at the onset of symptoms, were included. The calculation of the incidence was based on the 2010 census. We included 103 patients (55 men), with a mean age of 64 years. The onset of symptoms was in the lower limbs at 39%, upper extremities at 25% and bulbar at 26%. The initial symptom was weakness in 58% and dysarthria in 20%; 9% had dementia associated with ALS. The mean time to diagnosis was 14.5 months. Thirty new cases/patients were diagnosed between 01/06/2012 and 01/06/2013, with an incidence rate of 1.04 per 100,000 inhabitants. The epidemiological characteristics of ALS in CABA are similar to those reported in the universal literature. Further studies are needed to determine if these findings are applicable to the rest of the Argentine population.

Objective: The aim of this interim analysis of the REAL study is to assess the cardiac safety profile during first-dose monitoring period (FDO) of Fingolimod (Gilenya) treatment in Argentina. Background: Fingolimod, an oral sphingosine-1-phosphate-receptor (S1PR) modulator, is approved for relapsing remitting multiple sclerosis (RRMS). The S1PRs are present in cardiac myocytes which explains the potential effects on heart rate. Methods: REAL is a prospective, 2-year, open-label study enrolling 200 patients with RRMS from 25 centers across Argentina. Results: A total of 181 patients were included, 130 females (71.8[percnt]), mean age 42 (19-68 years). No patient had significant cardiac history. In 131 patients baseline mean heart rate (HR) was 73.54 bpm and at the end of the monitoring period was 66.73 (p=0.001), mean decrease of 6.81 bpm. Baseline ECGs were within normal limits in all patients. The nadir of the HR was seen between the 4th a 5th hour. Ten patients reached values of 55 or less bpm and one patient reached 44 bpm. The PR interval did not show relevant differences, basal 146.23ms and at 6 hours was 147.60ms, mean delta of 1.362ms (p=0.415). The QTc intervals during the monitoring period did not show differences between baseline and at 6 hours (373.27ms vs. 379.32ms (p=0.273) for males and 376.26ms vs 381.78ms for females). Five patients required extended monitoring after 6 hours due to prolonged asymptomatic bradycardia and were discharged at 9 hour of observation. None patient developed symptomatic bradycardia. Conclusions: The interim results in this cohort of 181 patients in Argentina demonstrated a very well tolerated cardiac safety profile of the FDO. Sinus bradycardia was the only clinical cardiovascular event observed in 3.7[percnt] of patients and the electrocardiography assessment did not show evidence of atrioventricular conduction disorders (PR and QTc intervals). The study was supported by Novartis Argentina.

OBJECTIVE: To perform an epidemiological study of ALS in the Autonomous City of Buenos Aires (CABA). BACKGROUND: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by involvement of the upper and lower motor neurons. Epidemiological studies have estimated an annual incidence between 0.31 and 3.2 x 100.000 inhabitants, and its prevalence between 0.8 and 8.5 cases per 100.000 inhabitants. There are no reliable data from Latin America in general and Argentina in particular. This information would be most helpful for developing health policies. DESIGN/METHODS:We performed a retrospective multicenter study. We included patients with ALS according to the El Escorial criteria evaluated between January 1, 2012 and December 31, 2013 and living in CABA at the onset of symptoms. The mean and interquartile range (IQR) were used as measures of dispersion. The calculation of incidence was based on the 2010 census. RESULTS:We identified 103 patients (41 men), mean age 66.7 years (IQR 20). 30 patients were diagnosed between 01/01/2012 and 31/12/2012, with an incidence rate of 1.04 x 100,000 inhabitants. Familial ALS was identified in 1.9[percnt] of our patients, and 14,6[percnt] had lived in rural areas. Among this group 58,3[percnt] met criteria for definite ALS, and 31,1[percnt] for probable ALS. The region initially affected was lower limbs in 38,8[percnt], upper limbs in 25,2[percnt] and bulbar in 26.2[percnt]. The first symptom was weakness in 58.3[percnt] and dysarthria in 20.4[percnt]. 9[percnt] had ALS-FTD. Mean time to diagnosis was 14.28 months. CONCLUSIONS:The estimated incidence was within the range of other epidemiological studies, but lower than what was found in other Latin America regions. It is possible that the heterogeneous healthcare system in CABA (different health insurances, private and public practice) may have limited the identification of some patients. Study Supported by: not supported. Disclosure: Dr. Perez Akly has nothing to disclose. Dr. Albanese has nothing to disclose. Dr. Barroso has nothing to disclose. Dr. Bendersky has nothing to disclose. Dr. Bettini has nothing to disclose. Dr. Di Egidio has nothing to disclose. Dr. Fulgenzi has nothing to disclose. Dr. Fiorotto has nothing to disclose. Dr. Gargiulo Monachelli has nothing to disclose. Dr. Jauregui has nothing to disclose. Dr. Landriscina has nothing to disclose. Dr. Mazia has nothing to disclose. Dr. Melcom has nothing to disclose. Dr. Reisin has received personal compensation for activities with Shire Pharmaceuticals Group as a consultant. Dr. Rey has received personal compensation for activities with Novartis, Pfizer Inc., Valeant Pharmaceuticals, Merck Serono, Biogen Idec, Avanir Pharmaceuticals, Janssen Pharmaceutica, Eil Lilly & Company, and Organon Pharmaceuticals. Dr. Rodriguez has nothing to disclose. Dr. Rugiero has nothing to disclose. Dr. Salutto has nothing to disclose. Dr. Tillard has nothing to disclose.

UNLABELLED:The objective of the study was to assess the cost of multiple sclerosis (MS) patients in Argentina categorized by disease severity using a societal perspective. METHOD:Cross-sectional study including MS patients from 21 MS centers in 12 cities of Argentina. Patients were stratified by disease severity using the expanded disability status scale (EDSS) (group 1 with EDSS score between 0 and 3; group 2 with EDSS >3 and <7; group 3 with EDSS ≥7). Direct and indirect costs were analyzed for the second quarter of 2012 from public sources and converted to US Dollars. RESULTS:266 patients were included. Mean annual cost per MS patient was USD 36,025 (95%CI 31,985-38,068) for patients with an EDSS between 0-3; USD 40,705 (95%CI 37,199-46,300) for patients with EDSS >3 and <7, and USD 50,712 (95%CI 47,825-62,104) for patients with EDSS ≥7. CONCLUSIONS:This is the first Argentine study evaluating the costs of MS considering disease severity.

Las manifestaciones motoras faciales unilaterales (MMFU) se describen clásicamente en crisis que inician en la región central inferior contralateral. Para evaluar el valor localizador y lateralizador de MMFU en crisis espontáneas registradas en videoelectroencefalografía (VEEG) y de MMFU obtenidas por estimulación cortical directa cerebral, analizamos 83 crisis con MMFU durante VEEG y 8 pacientes que presentaron MMFU durante estimulación cortical directa cerebral. Correlacionamos localización y lateralidad de la hipótesis de zona epileptógena con el tiempo de aparición de MMFU, y la zona de estimulación cortical directa cerebral que desencadenó MMFU con su lateralidad. En 61 crisis con MMFU (73.4%) la hipótesis de zona epileptógena no correspondió a la región central contralateral, por corresponder a la región central ipsilateral o a otras regiones tanto homolaterales como contralaterales. La MMFU se registró en forma precoz en 51.1% de las crisis con hipótesis de zona epileptógena en la región frontal, en 56% de las crisis con hipótesis de zona epileptógena en la región central y en 80% de las crisis con hipótesis de zona epileptógena en el lóbulo temporal. No registramos MMFU precoz en las crisis con hipótesis de zona epileptógena en la región posterior. En 2 (25%) de 8 pacientes con MMFU provocada por estimulación cortical directa cerebral, la zona de la estimulación no fue la región central inferior contralateral. Concluimos que las MMFU pueden deberse a descargas alejadas de la región central inferior, tanto ipsilaterales como contralaterales.

En los últimos años la información científica sobre el tratamiento farmacológico del dolor neuropático (DN) ha aumentado considerablemente. Estudios aleatorizados, controlados, metaanálisis, guías, recomendaciones y revisiones ofrecen al médico una gran posibilidad de lectura, gran parte de ella en inglés. Consideramos útil ofrecer al neurólogo no especialista de habla hispana un resumen actualizado en español de las guías y recomendaciones sobre el tratamiento farmacológico del DN.

La fibromialgia (FM) es una entidad que ha sido aceptada por la OMS en 1992. Los criterios diagnósticos han sido postulados inicialmente en 1990 y modificados recientemente. El cuadro clínico se caracteriza por dolor crónico osteoarticular, muscular y del tejido celular subcutáneo, con fluctuaciones a lo largo del tiempo; se asocia a patologías crónicas dolorosas y trastornos del sueño, atención y del estado de ánimo. Suele llevar varios años de evolución en el momento del diagnóstico, provocando disminución de las capacidades funcionales y conflictos psico-sociales. Afecta entre el 2 y 4,7% de la población entre los 20 y 60 años y en un 80% al sexo femenino. Los pacientes perciben dolor con estímulos de menor intensidad que la mayoría de los individuos. Si bien no se ha detectado un parámetro biológico indicador de FM, estudios con resonancia magnética funcional detectan imágenes que se correlacionan con una mayor percepción del dolor y se postulan factores genéticos y fallos en el sistema nervioso central, en los circuitos inhibitorios del dolor. Estos fenómenos son criticados por investigadores que postulan factores psicógenos de mala adaptación al dolor. El tratamiento debe contemplar fármacos: pregabalina, duloxetina y milnacipram combinados con tratamiento educacional, psicoterapéutico y ejercitación física controlada. En esta revisión se plantea una visión crítica de la FM dirigida al neurólogo que en su práctica diaria asiste a pacientes con FM.

Si bien el dolor neuropático (DN) es conocido desde la antigüedad y puede presentarse en numerosas entidades, muchos profesionales en nuestro medio consideran que la formación médica durante la etapa del pregrado en el tema es insuficiente. Para evaluar la opinión que tienen los médicos de su capacitación en DN en el pregrado y en el posgrado en nuestro país, los autores realizaron una encuesta a 440 médicos durante el año 2010. Se consultó a los profesionales si habían recibido educación de pregrado y de postgrado en DN y si se sentían capacitados para tratarlo. La mayoría de los médicos refirió no haber recibido educación de pregrado en dolor y DN (53%) y no se sentían capacitados para tratarlo (62%). Gran parte de los médicos adquiría formación en actividades de posgrado y estaban interesados en continuar su formación en DN.

Las epilepsias de la región posterior (ERP) comprenden las que comprometen los lóbulos occipitales, la región parietal por detrás del surco poscentral y los límites temporales posteriores, y corresponden a menos del 10% de epilepsias focales. La cirugía de este tipo de epilepsias es poco frecuente, debido principalmente a la alta proporción de áreas elocuentes de esta región. Evaluar los resultados y estrategias de la cirugía en ERP en nuestro medio. Se analizaron retrospectivamente pacientes con epilepsia refractaria sometidos a cirugía de la ERP entre los años 2005 y 2008. La evaluación prequirúrgica fue realizada mediante la semiología ictal, IRM de alta resolución, EEG interictal, V-EEG ictal, evaluación neuropsicológica, EEG invasivo y mapeo funcional por estimulación eléctrica. El pronóstico de crisis fue evaluado con escala de Engel, con un seguimiento mínimo de un año. Seis pacientes fueron incluidos, con un seguimiento medio de 2 años (1 a 3 años). La edad promedio fue de 23 años (1 a 33 años), con una duración media de la epilepsia de 18 años (0 a 33 años). Las etiologías fueron: tumores de bajo grado (2 pacientes), displasias corticales focales (2) y gliosis (2). Durante el seguimiento, 3 pacientes se encontraban libres de crisis, uno continúa con auras y 2 presentaron una reducción mayor del 50% de las crisis. Dos pacientes presentaron exacerbación de un déficit neurológico previo (hemianopsia). La cirugía de la ERP es posible realizarla en nuestro medio, presenta un buen pronóstico de crisis y el déficit posquirúrgico es aceptable. Posterior cortex epilepsy (PCE) includes those that affect the occipital lobes, the posterior parietal cortex, behind the postcentral sulcus and the posterior temporal boundaries. Less than 10% of focal epilepsy affects the posterior cortex. Epilepsy surgery of this region is rarely performed. This is mainly due to the high proportion of eloquent areas in this region. To evaluate seizure outcome and strategies of the epilepsy surgery in PCE in our country. We retrospectively analyzed patients with medically refractory posterior epilepsy who underwent resective surgery between 2005 to 2008 in Argentine. The preoperative evaluation included ictal semiology, high-resolution magnetic resonance imaging (MRI), interictal EEG, ictal V-EEG, neuropsychological evaluation, invasive EEG and functional mapping by electrical stimulation. The outcome was evaluated with Engel scale, with a minimum of one year follow up. Six patients were included, with a median follow up of 2 years (1 to 3 years). The median age was 23 years (1 to 33 years) with a median duration of epilepsy of 18 years (0 to 33 years). Aetiology: Low-grade tumors (2 patients), focal cortical dysplasia (2) and gliosis (2). Seizure outcome: 3 patients are seizures free, one has auras and 2 have a reduction greater than 50% of seizures. Two patients had exacerbation of previous neurological deficits (hemianopsia). Posterior epilepsy surgery is a feasible option in our region. Our results show a seizure outcome comparable to other developed counties and show an acceptable postoperative deficit.