Clinical and epidemiological characteristics of patients with Amyotrophic Lateral Sclerosis (ALS) in central Brazil

Objective: This study aimed to evaluate the clinical-epidemiological characteristics of patients with Amyotrophic Lateral Sclerosis (ALS) in the State of Goiás, Brazil. Methods: We conducted a descriptive cross-sectional study to assess medical records of patients with ALS followed-up at the State Rehabilitation and Readaptation Medical Center Dr. Henrique Santillo, Goiânia, GO, Brazil, between 2005 and 2018. In addition, we registered and created a photographic panel with the main clinical findings of ALS cases. Results: From 224 investigated patients, 51.8% were male, and 67.4% manifested the classic form of the disease. Initial symptoms were more frequent in the lower limbs (37.9%), and complications resulted in 45.5% of tracheostomy, 60.3% of gastrostomy, and 49.1% of deaths. Most patients had a five-year survival from the onset of symptoms, and no significant association between the use of non-invasive ventilation and increased survival were found. The analysis of the clinical-epidemiological characteristics showed a more extended time between the first symptoms and the diagnosis of the disease was observed. Conclusion: In this study, the time between the first symptoms and diagnosis was longer than in the literature, resulting in late treatments. In addition, there was no satisfactory result regarding survival with the use of non-invasive ventilation. Therefore, clinical-epidemiological studies of the disease in Brazil, as well as public awareness and training of professionals in recognition of ALS clinical signs will assist in early and more efficient interventions (AU)

Objetivo: Este estudo teve como objetivo avaliar as características clínico-epidemiológicas de pacientes com Esclerose Lateral Amiotrófica (ELA) no Estado de Goiás, Brasil. Métodos: Foi realizado um estudo transversal descritivo para avaliação de prontuários de pacientes com ELA acompanhados no Centro Médico Estadual de Reabilitação e Readaptação Dr. Henrique Santillo, Goiânia, GO, Brasil, entre 2005 e 2018. Além disso, registramos e criamos um painel fotográfico com os principais achados clínicos dos casos de ELA. Resultados: Dos 224 pacientes investigados, 51,8% eram do sexo masculino e 67,4% manifestavam a forma clássica da doença. Os sintomas iniciais foram mais frequentes em membros inferiores (37,9%) e as complicações resultaram em 45,5% de traqueostomia, 60,3% de gastrostomia e 49,1% de óbitos. A maioria dos pacientes teve sobrevida de cinco anos desde o início dos sintomas, e nenhuma associação significativa entre o uso de ventilação não-invasiva e aumento da sobrevida foi encontrada. A análise das características clínico-epidemiológicas mostrou um tempo mais prolongado entre os primeiros sintomas e o diagnóstico da doença. Conclusão: Neste estudo, o tempo entre os primeiros sintomas e o diagnóstico foi maior quando comparado à literatura, resultando em tratamentos tardios. Além disso, não houve resultado satisfatório em termos de sobrevida com o uso da ventilação não-invasiva. Portanto, estudos clínico-epidemiológicos sobre a doença no Brasil, bem como a conscientização pública e o treinamento de profissionais para o reconhecimento dos sinais clínicos de ELA, auxiliarão em intervenções precoces e mais eficazes (AU)

Epidemiology and factors predicting survival of amyotrophic lateral sclerosis in a large Chinese cohort / 中华医学杂志(英文版)

BACKGROUND@#Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder associated with loss of motor neurons. Our objective was to explore the epidemiology, clinical features, and survival factors of 1809 patients with ALS.@*METHODS@#We analyzed 1809 ALS patients, who were recruited from the Peking University Third Hospital from January 2005 to December 2015. Demographic data and disease-related parameters were collected. Kaplan-Meier curves were used to compare survival time. Cox proportional hazards function and the hazard ratio were used to identify adjusted prognostic predictors.@*RESULTS@#The results showed that the average annual incidence in Beijing alone was 0.38 cases/100,000 person-years and the mean age of onset was 48.88 ± 11.35 (95% confidence interval [CI]: 48.17-49.85) years. The median survival time from onset to death/tracheostomy was 58.89 ± 33.03 (95% CI: 51.46-63.84) months. In the adjusted Cox proportional hazard model, age of onset, diagnosis delay, rate of disease progression (Amyotrophic Lateral Sclerosis Functional Rating Scale Revised decline [points/month]), and body mass index all had an independent effect on survival in ALS.@*CONCLUSIONS@#Our study provides information on epidemiology, clinical features, and survival factors of patients with ALS in China. These results can be helpful in clinical practice, clinical trial design, and validation of new tools to predict disease progression.

Evaluation of clinical, epidemiological and electrophysiological variables for early diagnosis of amyotrophic lateral sclerosis / Avaliação de variáveis clínicas, epidemiológicas e eletrofisiológicas para diagnóstico precoce da esclerose lateral amiotrófica

Motor neuron disease (MND) is a systemic disease with a broad clinical spectrum. It is characterized by primary involvement of the lower or upper motor neuron (UMN), or both, simultaneously, represented by the most common form, amyotrophic lateral sclerosis (ALS). ALS is rapidly progressive and fatal disease that evolve to death due to respiratory failure, on average, in three to five years since the onset of symptoms. This fact attends to the early and correct diagnosis of the disease. OBJECTIVE: To evaluate clinical, epidemiological and electrophysiological variables for the early diagnosis of ALS. METHODS: This is an observational, descriptive and retrospective study, conducted from the collect of the database, in which the variables were submitted to statistical analysis: Mann-Whitney test and Fisher's exact test. RESULTS: When correlating clinical, epidemiological and electrophysiological findings of patients with ALS and other forms of MND, the variables: age of onset of symptoms (P=0,02) hyperreflexia (P=0,001), presence of bulbar symptoms/signs (P<0,001), pathological reflexes (P=0.001), and presence of fasciculation in electromyography (P=0,001) presented statistical significance for the diagnosis of ALS. CONCLUSION: Despite the small sample size, the findings reinforce the importance of well- done neurological examination, to search for signs of involvement of the UMN, in the first evaluation of patients with suspected MND. And that more research is needed to better understand the different phenotypes of the disease in order to obtain an increasingly early diagnosis to offer improvements in the quality of life of these patients

A doença do neurônio motor (DNM) é uma doença sistêmica com amplo espectro clínico. É caracterizada pelo envolvimento primário do neurônio motor inferior ou superior (NMS), ou ambos, simultaneamente, representados pela forma mais comum de esclerose lateral amiotrófica (ELA). A ELA é uma doença rapidamente progressiva e fatal que evolui para óbito devido à insuficiência respiratória, em média, em três a cinco anos desde o início dos sintomas. Esse fato atenta ao diagnóstico precoce e correto da doença. OBJETIVO: Avaliar variáveis clínicas, epidemiológicas e eletrofisiológicas para o diagnóstico precoce de ELA. MÉTODOS: Estudo observacional, descritivo e retrospectivo, realizado a partir da coleta do banco de dados, no qual as variáveis foram submetidas a análises estatísticas: teste de Mann-Whitney e teste exato de Fisher. RESULTADOS: Ao correlacionar achados clínicos, epidemiológicos e eletrofisiológicos de pacientes com ELA e outras formas de DNM, as variáveis: idade de início dos sintomas (P=0,02) hiperreflexia (P=0,001), presença de sintomas/sinais bulbares (P<0,001), reflexos patológicos (P=0,001) e presença de fasciculação na eletromiografia (P=0,001) apresentaram significância estatística para o diagnóstico de ELA. CONCLUSÃO: Apesar do pequeno tamanho da amostra, os achados reforçam a importância do exame neurológico bem feito, na busca de sinais de envolvimento da NMS, na primeira avaliação de pacientes com suspeita de DMN. E que são necessárias mais pesquisas para melhor entendimento dos diferentes fenótipos da doença, a fim de obter um diagnóstico cada vez mais precoce para oferecer melhorias na qualidade de vida desses pacientes

Depression and anxiety in a case series of amyotrophic lateral sclerosis: frequency and association with clinical features / Depressão e ansiedade em uma série de casos de esclerose lateral amiotrófica: frequência e associação com aspectos clínicos

ABSTRACT Objective To investigate the frequency of anxiety and depression and their association with clinical features of amyotrophic lateral sclerosis. Methods This is a cross-sectional and descriptive study including a consecutive series of patients with sporadic amyotrophic lateral sclerosis according to Awaji’s criteria. Patients underwent clinical and psychiatric assessment (anxiety and depression symptoms). Results We included 76 patients. The men/women ratio was 1.6:1. Participants’ mean age at disease onset was 55 years (SD±12.1). Sixty-six patients (86.8%) were able to complete psychiatric evaluation. Clinically significant anxiety was found in 23 patients (34.8%) while clinically significant depression was found in 24 patients (36.4%). When we compared patients with and without depression a significant difference was seen only in the frequency of anxiety symptoms (p<0.001). We did further analysis comparing subgroups of patients classified according to the presence or not of anxiety and or depression, without any significant difference regarding sex, age at onset, initial form, disease duration or functional measures. A positive correlation between anxiety and depressive symptoms was found (p<0.001). Conclusion Anxiety and depressive symptoms were highly correlated and frequent in patients with amyotrophic lateral sclerosis. In addition, anxiety and depression were not associated with disease duration and presentation, sex, age at onset, and functional score.

RESUMO Objetivo Investigar a frequência de ansiedade e depressão e sua associação com aspectos clínicos da esclerose lateral amiotrófica. Métodos Estudo transversal e descritivo de uma série consecutiva de pacientes com esclerose lateral amiotrófica esporádica conforme os critérios de Awaji. Os pacientes foram submetidos à avaliação clínica e psiquiátrica (sintomas depressivos e ansiosos). Resultados Foram incluídos 76 pacientes. A relação homem/mulher foi de 1,6:1. A média de idade de início dos sintomas foi de 55 anos (DP±12,1). Foram capazes de completar a avaliação psiquiátrica 66 (86,8%) pacientes. Ansiedade clinicamente significativa foi encontrada em 23 pacientes (34,8%), enquanto depressão clinicamente significativa foi encontrada em 24 pacientes (36,4%). Ao comparar os pacientes com e sem depressão, houve diferença significativa apenas na frequência de sintomas de ansiedade (p<0,001). Posteriormente, foram comparados subgrupos de pacientes categorizados em relação à presença ou não de ansiedade e/ou depressão, sem diferença significativa em relação a sexo, idade de início dos sintomas, forma inicial, duração da doença ou na escala funcional. Foi encontrada correlação positiva entre os sintomas de ansiedade e depressão (p<0,001). Conclusão Sintomas de ansiedade e depressão são frequentes em pacientes com esclerose lateral amiotrófica e estiveram altamente correlacionados. Ansiedade e depressão não foram associadas com duração da doença, forma inicial, sexo, idade de início dos sintomas e pontuação na escala funcional.

Depression and anxiety in individuals with amyotrophic lateral sclerosis: a systematic review / Depressão e ansiedade em pessoas com esclerose lateral amiotrófica: uma revisão sistemática

Introduction Studies assessing symptoms of depression and anxiety in individuals with amyotrophic lateral sclerosis (ALS) have reported contradictory results. The objective of this systematic review is to identify the prevalence of these mood disorders in the literature. Methods We searched the PubMed, HighWire, MEDLINE, SciELO, LILACS and ScienceDirect databases. Literature was selected for review in two stages, according to eligibility criteria. The first stage involved searching databases and checking titles and abstracts. The second step consisted of reading complete articles and excluding those that did not meet the inclusion criteria. The inclusion criteria were articles written in Portuguese, English or Spanish, published in the last five years and involving people with ALS diagnosed according to the El Escorial criteria. Results The database searches returned a total of 1,135 titles and abstracts and then 1,117 of these were excluded. Eighteen articles were selected for review. The 12-item Amyotrophic Lateral Sclerosis Depression Inventory (ADI-12) was the only instrument designed specifically to assess depression in ALS, but it was only used in three studies. No instruments specifically designed for anxiety in ALS were used. A large number of studies found presence and slight increase of anxiety disorders. There was considerable large variation in the results related to depressive disorders, ranging from moderate depression to an absence of symptoms. Conclusions Patients with ALS may exhibit symptoms of depression and anxiety at different levels, but there is a need for studies using specific instruments with larger samples in order to ascertain the prevalence of symptoms in ALS and the factors associated with it.

Introdução Estudos avaliando sintomas depressivos e ansiosos em pessoas com esclerose lateral amiotrófica (ELA) têm apresentado resultados contraditórios. Esta revisão sistemática tem por objetivo identificar a prevalência desses transtornos do humor na literatura. Métodos A pesquisa foi feita nas bases de dados PubMed, HighWire, MEDLINE, SciELO, LILACS e ScienceDirect. A seleção dos estudos foi realizada em duas etapas de acordo com os critérios de elegibilidade. A primeira etapa envolveu pesquisa nas bases de dados e revisão de títulos e resumos. Na segunda etapa houve a leitura dos artigos completos e a exclusão dos que não preenchiam os critérios de inclusão. Os critérios de inclusão eram: publicação nos idiomas português, inglês ou espanhol, nos últimos 5 anos e envolvendo pessoas com ELA conforme o El Escorial. Resultados Um total de 1.135 títulos e resumos foram selecionados, mas 1.117 foram excluídos. Como resultado, 18 artigos foram incluídos na revisão. O Inventário de Depressão da Esclerose Lateral Amiotrófica com 12 itens (ADI-12) foi o único instrumento específico para avaliação da depressão na ELA utilizado, porém em apenas três estudos. Nenhum instrumento específico para ansiedade na ELA foi utilizado. Boa parte dos estudos apontaram presença e ligeiro aumento das desordens de ansiedade. Já para depressão houve grande diversidade de respostas, variando de depressão moderada à ausência de sintomas. Conclusões Pessoas com ELA podem apresentar sintomas depressivos e ansiosos em proporções diferentes, mas há a necessidade de estudos com instrumentos específicos e com amostras mais amplas para que se possa averiguar a prevalência das sintomatologias na ELA e os fatores associados a elas.

Amyotrophic Lateral Sclerosis and Agricultural Environments: A Systematic Review

The aim of this study was to examine the relationship between the risk of amyotrophic lateral sclerosis (ALS) and exposure to rural environments. Studies were identified through OVID MEDLINE and EMBASE search up to September 2013 using as keywords rural residence, farmers, and pesticide exposure. Twenty-two studies were included for this meta-analysis. Summary odds ratios (ORs) were calculated using random effect model by type of exposure index, and subgroup analyses were conducted according to study design, gender, region, case ascertainment, and exposure assessment. The risk of ALS was significantly increased with pesticide exposure (OR, 1.44; 95% CI, 1.22-1.70) and with farmers (OR, 1.42; 95% CI, 1.17-1.73), but was not significant with rural residence (OR, 1.25; 95% CI, 0.84-1.87). The risk estimates for subgroup analysis between pesticide exposure and ALS indicated a significant positive association with men (OR, 1.96), and in studies using El Escorial criteria for ALS definition (OR, 1.63) and expert judgment for pesticide exposure (OR, 2.04) as well. No significant publication bias was observed. Our findings support the association of pesticide exposure and an increased risk for ALS, stressing that the use of more specific exposure information resulted in more significant associations.

Prevalence of amyotrophic lateral sclerosis in the city of Porto Alegre, in Southern Brazil / Prevalencia de esclerose lateral amiotrofica na cidade de Porto Alegre, sul do Brasil

Objective : To determine the prevalence of amyotrophic lateral sclerosis (ALS) in the city of Porto Alegre, Brazil. Method : We conducted an extensive investigation in clinics and hospitals that provide specialized assistance to these patients, contacted neurologists and the regional association of people with ALS. Results : On July 31, 2010, 70 patients were alive and diagnosed with amyotrophic lateral sclerosis. Considering the population living in the city in the same period (1,409,351), the estimated prevalence was 5.0 cases per 100,000 people (95% CI, 3.9-6.2), being higher for men (5.2/100,000 95% CI, 3.6-7.2) than for women (4.8/100,000 95% CI, 3.4-6.5). The prevalence increased with age peaking in the age group 70-79 years in both genders. Conclusion : The prevalence of ALS in the city of Porto Alegre is similar to that reported in other parts of the world. .

Objetivo : Determinar a prevalência de esclerose lateral amiotrófica (ELA) no município de Porto Alegre, Brasil. Método : Foi realizada ampla busca em hospitais especializados, contato com neurologistas e com a associação regional dos portadores de ELA para identificar os casos. Resultados : No dia 31 de julho de 2010, 70 pacientes estavam vivos e com diagnóstico de ELA. Considerando a população residente no município no mesmo período (1.409.351), a prevalência estimada foi de 5,0 casos a cada 100.000 pessoas (IC 95%, 3,9-6,2), sendo maior para os homens (5,2/100.000 IC 95%, 3,6-7,2) do que para as mulheres (4,8/100.000 IC 95%, 3,4-6,5). A prevalência aumentou com a idade, atingindo um pico entre os 70 e 79 anos, em ambos os sexos. Conclusão : A prevalência de ELA no município de Porto Alegre é similar à encontrada em outras localidades no mundo. .

Epidemiology of the amyotrophic lateral sclerosis Bahia: Brazil

The Amyotrophic Lateral Sclerosis is a neurological disorder, with the degeneration of the upper and lower motor neurons. The aim is investigate the start of the symptoms, describe the findings and study the survival period of patients with ALS. We analyzed 70 patients. The patients’ average age was 49.68 years old and we found 43 patients (61.4 percent) who were white, 22 who were grayish brown (31.4 percent) and 5 who were black (7.1 percent). Regarding the start of the symptoms, 51 patients (72.9 percent) showed a distal start, 31 a proximal one (44.3 percent) and 8 of them (11.4 percent) showed a bulbar start. The survival period, after de diagnosis, was of 64.11 months. The mean age, signs and symptoms and the patients’ survival period we found, are compatible with the ones found in the literature, except for the number of black patients, that was bigger in our survey.

A esclerose lateral amiotrófica (ELA) é uma desordem neurológica com degeneração dos neurônios motores superiores e inferiores. Objetivo: investigar o inicio dos sintomas, descrever a evolução e os achados neurológicos e estudar a sobrevida dos pacientes com ELA. Método: Analisamos 70 pacientes entre 1996 e 2007, que preencheram os critérios propostos no El Escorial, sendo 52 do sexo masculino e 18 do sexo feminino. A média de idade dos pacientes era de 49,6857 anos, encontramos 43 (61,4 por cento) brancos, 22 (31,4 por cento) pardos e 5 (7,1 por cento) negros. Quanto ao inicio dos sintomas, 51 (72,9 por cento) dos pacientes apresentaram inicio distal, 31 (44,3 por cento) de forma proximal e 8 (11,4 por cento) de forma bulbar. Os sintomas mais comuns foram dos fraqueza muscular, atrofia muscular e miofasciculações presente em 69 (98,6 por cento) pacientes. A sobrevida após diagnóstico foi de 64,116 meses. Conclusão: A idade média, os sinais e sintomas e a sobrevida dos pacientes analisados são compatíveis com os encontrados na literatura, exceto pela quantidade de pacientes da raça negra, que foi maior.

Homozygous SMN2 Deletion is a Major Risk Factor among Twenty-Five Korean Sporadic Amyotrophic Lateral Sclerosis Patients

PURPOSE: The association between survivor motor neuron (SMN) gene deletion and spinal muscular atrophy suggests that sporadic amyotrophic lateral sclerosis (sALS) may be related to SMN deletion. We examined the association between the SMN genotype and susceptibility to and severity of sALS. MATERIALS AND METHODS: We genotyped the copy number of SMN1 and SMN2 in 25 patients diagnosed with sporadic ALS and 100 healthy subjects in a Korean population. Onset age and medical research council (MRC) scale were compared among patients according to SMN1 : SMN2 genotypes. RESULTS: There was a significantly higher incidence of homozygous deletion of SMN2 (SMN1 : SMN2 genotype, 2 : 0) in sALS patients (20%) than in the normal controls (2%) (p<0.001). The onset age for patients with homozygous deletion of SMN2 (2 : 0) was significantly younger (34+/-15.38 years) than that of patients with 2 : 1, 2 : 2 and 2 : 3 of the SMN1 : SMN2 genotype (59.5+/-5.09; 52.69+/-16.46 and 50+/-0.00 years) (p=0.049). The ratio of patients with an MRC scale above G4- was smaller in the 2 : 0 genotype (40%) than in the 2 : 1, 2 : 2 and 2 : 3 genotypes (83.3%, 100% and 100%) (p=0.02). CONCLUSION: The homozygous SMN2 deletion (2 : 0) was statistically more frequent and associated with earlier onset age and lower MRC scale in Korean sALS patients. These suggest that SMN2 deletion may be one of the factors associated with susceptibility to and severity of sALS in a Korean population.

Epidemiology of amyotrophic lateral sclerosis patients in a centre in Buenos Aires / Epidemiología de los pacientes con esclerosis lateral amiotrófica en el centro de Buenos Aires

Sporadic amyotrophic lateral sclerosis (sALS) is considered a multifactorial disease with genetic and environmental factors causing motor neuron degeneration. OBJECTIVE: To describe the epidemiological and occupational characteristics of patients with sALS who attended the Ramos Mejía Hospital at Buenos Aires, Argentina. METHOD: We analyzed the medical records of sALS patients diagnosed between 2001 and 2008. All occupations were coded according to the International Standard Classification of Occupation (ISCO). RESULTS: 187 patients were assessed, 38.5 percent were women and 61.5 percent men. Mean age at diagnosis was 55 years. 16 percent of them came from rural areas; 68 percent of the studied population had no health insurance. 40 percent were employed in elementary occupations, 19 were technicians and 8 handicraftsmen. CONCLUSION: The most represented profession was elementary occupation. A large proportion of patients came from rural areas, which might suggest an increased risk of environmental exposure to an unknown agent in those regions.

La esclerosis lateral amiotrófica esporádica (ELAe) es considerada una enfermedad multifactorial. OBJETIVO: Describir las características epidemiológicas y laborales de un grupo de pacientes con ELAe que fueron evaluados en el Hospital Ramos Mejía de Buenos Aires, Argentina. MÉTODO: Se analizaron los registros médicos de pacientes con ELAe diagnosticados entre 2001 y 2008. Las ocupaciones fueron codificadas de acuerdo a la Clasificación Internacional de Ocupaciones (ISCO). RESULTADOS: 187 pacientes fueron evaluados, 38,5 por ciento mujeres y 61,5 por ciento hombres. Edad media al diagnóstico 55 años. 16 por ciento procedían de zonas rurales, 68 por ciento no tenía seguro de salud. 40 por ciento se encontraba empleado en ocupaciones elementales, 19 por ciento eran técnicos , 8 por ciento artesanos y 7 por ciento operadores de maquinas. CONCLUSIÓN: La profesión más representada fue la de ocupación elemental. Una gran proporción de los pacientes provenían de zonas rurales, lo que podría sugerir un mayor riesgo de exposición ambiental a un agente desconocido en esas regiones.

Epidemiologia da esclerose lateral amiotrófica - Europa/América do Norte/América do Sul/Ásia: discrepâncias e similaridades: revisão sistemática da literatura / Epidemiology of amyotrophic lateral sclerosis - Europe/North America/South America/Asia: discrepancies and similarities: systematic review of the literature

A esclerose lateral amiotrófica é uma doença neurodegenerativa de causa desconhecida, que afeta principalmente os neurônios motores da medula espinhal, tronco cerebral e do encéfalo.No Brasil, há poucos dados disponíveis epidemiológicos da ELA, principalmente nos aspectos de distribuição por gênero, tempo do início da sintomatologia, até o diagnóstico. O presente estudo tem o objetivo de apresentar uma revisão sistemática da literatura indexada sobre incidência, prevalência, forma de apresentação e acometimento inicial da doença, taxa de mortalidade, epidemiologia da ELA no Brasil e em outros países, definida pelos critérios de EL Escorial (WFN, 1998). Foram selecionados 10 artigos, publicados na língua inglesa, de 1982 a 2008, com estudo retrospectivo, observacional, através de busca nas bases de dados por índice, título, assunto, usando combinações de palavras-chave inglesas, visando estudos com pacientes avaliados em centros de referência. Nos trabalhos devidamente tabulados foi aplicado o critério Oxman & Guyatt (1991) para qualificar, sem, entretanto ter intenção de exclusão. Os estudos mostram discrepâncias nas variações em relação à taxa de incidência nas várias regiões do mundo, maior na Ilha de Guam (3,9/100.000 habitantes) e menor na China (0,3/100.000 habitantes). A média de idade de acometimento é menor no Brasil, com 52 anos, mostrando discrepância em relação aos outros países que variam de 59 a 65 anos.A similaridade refere-se ao sexo, com maior prevalência nos homens do que nas mulheres e sintoma inicial com fraqueza muscular assimétrica.

Amyotrophic lateral sclerosis is a neurodegenerative disease of unknown cause, which mainly affects the motor neurons of the spinal cord, brain stem and of the brain. In Brazil, there is few available epidemiological data on ALS, mainly about gender distribution, time of beginning of the symptoms, as well as diagnosis. The present study has as objective to present a systematic review of the indexed literature on incidence, prevalence, form of presentation and initial symptoms of the disease, rate of mortality, epidemiology of ALS in Brazil and other countries, as defined with the EL Escorial criteria (WFN, 1998). Ten articles were selected, published in the English language between 1982 and 2008, with retrospective, observational study, through search in databases for index, heading, subject, using combinations of English keywords, aiming at studies with patients evaluated in reference centers. In the tabulated works, the Oxman & Guyatt (1991) criterion was applied to characterize, but without exclusion intention. The studies show discrepancies in the variations related to the rates of incidence in various regions of the world, mostly in the Island of Guam (3.9/100.000 hab) and less in China (0.3/100.000 hab). The average age of at the beginning is smaller in Brazil, with 52 years, displaying discrepancy in relation to the other countries where it varied from 59 to the 65 years. The similarity is related to the gender, with greater prevalence in the men than in the women, and in relation to initial symptom, with asymmetrical muscular weakness.

A clinical epidemiological study of 251 cases of amyotrophic lateral sclerosis in the south of Brazil

OBJECTIVE: To study the clinical forms of amyotrophic lateral sclerosis (ALS) and the possible presence of risk factors in order to verify if there is any difference between cases in Paraná, Brazil. METHOD: We studied 251 cases, all of which fulfilled the diagnosis criteria proposed in El Escorial (WFN). Between 1977 and 2004, 157 male and 94 female patients were examined. RESULTS: 220 cases were classified as ALS-Spinal Onset (ALS-SO), 24 as ALS-Bulbar Onset (ALS-BO) and 7 as Familial ALS. The mean age at time of evaluation was 54.4±12.3 years, and symptoms had started 17.9±15.7months previously. In the group studied, statistical relationships were found between heavy occupations and males; previous surgeries and females; ALS-BO and dysphagia and dysarthria in females; and ALS-SO and males, cramps, weakness, muscle atrophy, hypertonia, increased deep tendon reflex and abnormal gait. CONCLUSION: The average age at time of evaluation was lower than that registered in the literature but similar to the Brazilian series. Domestic work and heavy occupations appear to be related to precocious perception of the symptoms by interference with daily functions. The socioeconomically higher classes seek medical care early. There was no relationship with exposure to toxic agents or trauma.

OBJETIVO: Estudar as formas clínicas de esclerose lateral amiotrófica (ELA) e possíveis fatores de risco, a fim de verificar se existem diferenças entre os casos do Paraná, Brasil. MÉTODO: Estudamos 251 casos entre 1977 e 2004, que preencheram os critérios propostos em El Escorial (WFN), sendo 157 do sexo masculino e 94 do feminino. RESULTADOS: Foram classificados como ELA de início espinhal (ELA-IE) 220 casos, ELA de início bulbar (ELA-IB) 24 casos e 7 casos como ELA familiar. A idade média na avaliação foi 54,4±12,3 anos cujos sintomas iniciaram 17,9 ±15,7 meses antes. Foram encontradas relações estatísticas entre ocupação que demandam esforços físicos com homens; cirurgias prévias com mulheres; ELA-IB, disfagia e disartria, mulheres; ELA-IE, homens, câimbras, fraqueza, atrofia muscular, hipertonia, aumento de reflexos profundos e marcha anormal. CONCLUSÃO: A idade média na época da avaliação foi menor que a registrada na literatura, mas similar às séries brasileiras. Trabalhos domésticos e ocupações que demandam esforços físicos estão relacionados com a percepção precoce dos sintomas pelas inferências com as funções diárias. As classes sócio-econômicas melhores situadas procuram atendimento médico mais cedo. Não foram encontradas relações com a exposição a agentes tóxicos e traumatismos.

Amyotrophic lateral sclerosis and diabetes on Guam: changing patterns of chronic disease in an island community.

Amyotrophic lateral sclerosis (ALS) occurred on the island of Guam with unusually high incidence rates for many years but began to disappear with the island's westernization after WW II. The authors document these changes and suggest that they support a hypothesis that cultural changes could be responsible for both the virtual disappearance of this chronic degenerative neurologic disease as well as a concurrent surge in the prevalence of diabetes.

Amyotrophic lateral sclerosis in Brazil: 1998 national survey

OBJECTIVES: To assess the epidemiologic characteristics of amyotrophic lateral sclerosis (ALS) in Brazil in 1998. METHOD: Structured Clinical Report Forms (CRFs) sent to 2,505 Brazilian neurologists from January to September 1998 to be filled with demographic and clinical data regarding any ALS patient seen at any time during that year. RESULTS: Five hundred and forty CRFs were returned by 168 neurologists. Data on 443 patients meeting the criteria of probable or definite ALS according to El Escorial definition were analysed: 63 probable (14.2 percent) and 380 definite (85.8 percent). Two hundred and fifty-nine (58.5 percent) of the patients were male, mean age of onset was 52. Spinal onset occurred in 306 patients (69 percent); bulbar onset in 82 (18.5 percent), and both in 52 (11.7 percent). Twenty-six (5.9 percent) had a family history of ALS. Two hundred and fifty-nine (58.6 percent) were seen by private practitioners, and 178 (40.2 percent) at a hospital clinic. Age-ajusted incidence shows a peak incidence at the 65-74 years old range. CONCLUSIONS: The disease's characteristics are similar to those described in international studies, except for age of onset (Brazilian patients are younger). This difference is not confirmed when figures are age-adjusted

Amyotrophic lateral sclerosis in a secluded region in Mexico possibly related to lead toxicity / Esclerosis lateral amiotrofica posiblemente relacionada con intoxicación de plomo una area aislada de México

La esclerosis lateral amiotrófica (ELA) es un padecimiento con una distribución relativamente uniforme en el mundo. La relación entre la ELA y diversos factores ambientales tóxicos se ha documentado en múltiples estudios. Uno de los aspectos más relevantes para el estudio de dichos factores ambientales es el hallazgo de "brotes" de la enfermedad en sujetos cuyo único punto en común es compartir el mismo medio ambiente. El objetivo de éste estudio es investigar la presencia de un "brote" de ELA en la comunidad de Tetela del Río en Guerrero. Se realizó un cuestionario para recolectar posibles casos de la enfermedad así como factores de riesgo, además de mediciones de plomo en quince sujetos control de la comunidad. El cuestionario se aplicó casa por casa en la comunidad, se detectaron 5 posibles casos con disartria, disfagia y atrofia de las extremidades. Los niveles promedio de plomo en los controles fueron de 22.4 ug/dl, los cuales fueron significativamente mayores a los de una población control en Hidalgo (p<0.00001). En este estudio sólo se confirmó un caso definitivo de ELA, pero el testimonio de los pobladores de la comunidad apuntaron hacia otros 5 posibles casos. El estudio de los brotes de FLA provee de información muy valiosa para la detección de factores ambientales relacionados al desarrollo de la enfermedad, lo cual puede ayudar en la búsqueda de opciones terapéuticas.

Paralisia bulbar progressiva do adulto: seria uma entidade nosológica autônoma? / Progressive bulbar palsy: could it be an autonomous nosological entity

Neste artigo säo considerados aspectos nosológicos e discutida a autonomia da PBP. É mostrada a tendência entre autores modernos, a considerar a íntima relaçäo com a esclerose lateral amiotrófica (forma bulbar)