Amyotrophic lateral sclerosis: clinical analysis of 78 cases from Fortaleza (Northeastern Brazil)

Mourão

et al. 2008

-Objective:To establish correlations between nutritional, functional and respiratory indices of patients with amyotrophic lateral sclerosis (ALS). Method: Twenty patients (13 appendicular -GA and 7 bulbar -GB) were included in the multidisciplinary study at the Neurological Clinic Ambulatory of the University of Campinas Hospital. Results: Among the GA type significant correlation was observed between maximal inspiratory (MIP) and expiratory (MEP) pressure (r= -0.76), MEP and pulse oxymetry (r=0.58), MIP and percent weight loss (%WL; r=0.59), and between MIP, total and subscale respiratory scores (ALSFRS-R) with %WL. With regard to the GB, correlation was found between MEP and body mass index (BMI) (r=0.97). In both GA and GB correlations were noticed between the BMI and the variables mass (kg), fat (%), arm and wrist circumference (cm), and tricipital, subscapular and supra-iliac skinfolds (mm), as well as the arm muscle circumference (cm) and fatty arm muscular area (mm 2 ). Conclusion: It is suggested that the application of simple anthropometric measurements could be useful in routine monitoring of patients with ALS.KEY WORDS: amyotrophic lateral sclerosis, nutritional support, respiratory tests, ALSFRS scale. esclerose lateral amiotrófica: correlações dos indicadores da avaliação nutricional, funcional e respiratóriaResumo -Objetivo: Correlacionar os indicadores utilizados na avaliação nutricional, funcional e respiratória de indivíduos com esclerose lateral amiotrófica (ELA). Método: Vinte pacientes (13 apendiculares -GA e 7 bulbares -GB) foram incluídos no estudo usando parâmetros nutricionais, respiratórios e escala funcional (ALSFRS-R). Resultados: Entre os pacientes do GA, as correlações observadas foram: pressão inspiratória máxima (PI max ) e expiratória máxima (PE max ) (r= -0,76); PE max e oximetria de pulso (r=0,58); PI max e porcentagem de perda de peso (%PP) (r=0,59); e entre PI max , escore ALSFRS-R com %PP. No GB, houve correlação entre MEP e índice de massa corporal (IMC) (r=0,97). Em GA e GB, observaram-se correlação entre IMC e as variáveis: massa, gordura (%), circunferência braquial e punho, pregas cutâneas tricipital, subescapular e supra-ilíaca, circunferência muscular do braço (cm), área muscular gordurosa do braço (mm 2 ). Conclusão: Sugere-se a aplicação deste conjunto de medidas durante a evolução clínica de indivíduos com ELA. PALAVRAS-CHAVE: esclerose lateral amiotrófica, suporte nutricional, testes respiratórios, escala ALSFRS-R.

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confidence: 99%

Amyotrophic lateral sclerosis: combined nutritional, respiratory and functional assessment

Mourão

et al. 2008

“…10 In 1999, a retrospective study performed on 78 patients from Ceará (a northeastern state) found 21% of them to be of juvenile (15-29 years old) sporadic form. Ninety-one percent had spinal onset, and malefemale ratio was 1.8/1 11 …”

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Amyotrophic lateral sclerosis in Brazil: 1998 national survey

Dietrich-neto¹,

Callegaro

Dias‐Tosta

et al. 2000

-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%) and 380 definite (85.8%). Two hundred and fifty-nine (58.5%) of the patients were male, mean age of onset was 52. Spinal onset occurred in 306 patients (69%); bulbar onset in 82 (18.5%), and both in 52 (11.7%). Twenty-six (5.9%) had a family history of ALS. Two hundred and fifty-nine (58.6%) were seen by private practitioners, and 178 (40.2%) 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.KEY WORDS: amyotrophic lateral sclerosis, ALS, epidemiology, prevalence, incidence. Esclerose lateral amiotrófica no Brasil: registro nacional, 1998RESUMO -Objetivos: Avaliar as características epidemiológicas da esclerose lateral amiotrófica (ELA) no Brasil durante o ano de 1998. Método: Formulários estruturados enviados a 2.505 neurologistas brasileiros de janeiro a setembro de 1998 para serem preenchidos com dados demográficos e clínicos de todos os pacientes com ELA atendidos no ano de 1998. Resultados: Quinhentos e quarenta formulários retornaram, enviados por 168 neurologistas. Dados sobre 443 pacientes que se enquadravam nos critérios de ELA provável ou definida de acordo com El Escorial foram analisados: 63 provável (14,2%) e 380 definida (85,8%). Duzentos e cinquenta (58,5%) eram do sexo masculino. A idade média de aparecimento dos primeiros sintomas foi de 52 anos. O início em membros ocorreu em 306 pacientes (69%), bulbar em 82 (18,5%) e generallizada em 52 (11,7%). Vinte e seis (5,9%) tinham história familiar. Duzentos e cinquenta e nove (58,6%) foram atendidos em clínicas ou consultórios, e 178 (40,2%) em ambulatório de hospital. Ajustando para a distribuição da população brasileira segundo faixa etária, a maior incidência ocorre entre 65 e 74 anos de idade. Conclusões: As características epidemiológicas da doença são semelhantes àquelas descritas em estudos internacionais, exceto para idade dos primeiros sintomas (pacientes brasileiros são mais jovens). Esta diferença desaparece quando os valores são ajustados para idade. PALAVRAS-CHAVE: esclerose lateral amiotrófica, ELA, epidemiologia, prevalência, incidência.Amyotrophic lateral sclerosis (ALS) is an invariably fatal neurodegenerative disease encompassed in the spectrum of neuromuscular disorders (NMD) and characterized by progressive

“…Brazilian's series of ALS shows a higher prevalence of ALS in males and the age of disease onset age around the fourth decade, except in the series of Castro-Costa and coworkers that showed a high percentage of young cases, sporadic juvenile and early-onset adults with ALS 9 . In Brazil, limb onset is more frequent and survival after diagnoses lasts around 48 months 3,[9][10][11] .…”

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“…In Brazil, limb onset is more frequent and survival after diagnoses lasts around 48 months 3,[9][10][11] . Our patient presents particular characteristics: a female native manifesting a disease occuring in earlier age.…”

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confidence: 99%

Amyotrophic lateral sclerosis in a Brazilian Kayapó-Xikrin native

Godeiro-Júnior

Vieira-Filho

Felı́cio

et al. 2008

Amyotrophic lateral sclerosis (ALS) is one of the major neurodegenerative disorders alongside Alzheimer's disease and Parkinson's disease. It is a progressive disorder that involves degeneration of motor system at all levels, leading to muscle weakness and fatal course. Physical signs of this disease thus encompass both upper and lower motor neurons.The former is characterized by brisk reflexes and signs of pyramidal release such as Babinski sign, and the latter by muscle atrophy and fasciculation 1 . The diagnostic criteria for ALS were published elsewhere 2 . The incidence of sporadic ALS is between 1.5-2/ 100000 per year, giving a prevalence of around 6/100000. Males are usually more affected than females (ratio 1.6:1) 1 . In Brazil, an attempt to put together a comprehensive database to assess ALS's epidemiological aspects was performed. The incidence and prevalence were lower than in Europe and USA. Regarding the clinical characteristics the same clinical pattern as in European and North-American patients was found. Minor differences in Brazilian patients were found on their lower age at onset and a higher incidence of bulbar onset among women 3 . Several causal and pathogenic hypotheses for ALS have been proposed over the years, ranging from genetic to environmental etiology. Approximately 5-10% patients with the diagnosis of ALS present a positive family history. Autosomal recessive and dominant pattern of inheritance were already described. Between 10-20% of autosomal-dominant patients have mutations in superoxide dismuatse (SOD1) gene on chromosome 21. Numerous other genetic mutations were reported: angiogenin (14q11.2), vascular endothelial growth factor (6p12), survival motor neuron (5q12.2-q13.3), neurofilament protein (22q12.2), and charged multivesicular body protein 2B (2p11.2) 4 . A host of environmental factors have been investigated as potential risk factors, ranging from heavy-metal toxic effects to occupational exposures. Current research are focusing largely on excitotoxicity and oxidative stress, even the cycad exposure has been revisited 5,6 . Chomorros, a native population of Guam Island, were the first group in which a clear environmental toxin exposure was related to increased risk of ALS 6 . In Brazil, there is no description of a native group with increased risk of ALS.Herein we describe the first report of ALS in a Brazilian native of the Xikrin group. This group of natives belongs to a larger group known as Kayapó from "Jê" linguistic family. Their village extends along the Cateté river, in eastern Amazonia, State of Para, north of Brazil. The Xikrin were almost extinct by 1968, reaching the number of only 98 7 . However, in the last four decades, with an appropriate health support, their population has been increasing due to a great number of births and reduction in infantile mortality, reaching a total population of 947 natives (512 male and 435 female) in July 2007 8 . Figure shows Xikrin village during a traditional ritual for old and young men. CASeA 46-year-old female Xikrin...