Onset, natural history and outcome in idiopathic adult motor neuron disease

-We report on the clinical characteristics of amyotrophic lateral sclerosis (ALS) in Fortaleza (Northeastern Brazil). For this, we analyzed retrospectively (from 1980 to 1999) 78 cases of ALS from the Service of Neurology of the University Hospital of Fortaleza diagnosed clinically and laboratorially (EMG, muscle biopsy, myelography, blood biochemistry, muscle enzymes and cranio-cervical X-ray). The results showed that they were mostly sporadic ALS (76/78), and they were divided into definite (n= 36), probable (n= 20), possible (n= 15) and suspected (n= 7), according to the level of diagnostic certainty. They were also subdivided into juvenile (n= 17), early-onset adult (n= 18), age-specific (n= 39) and late-onset (n= 4) groups. Clinically, they presented as initials symptoms, principally, asymmetrical (30/78) and symmetrical (24/78) weakness of extremities, besides bulbar signs, fasciculations, and atrophy. Curiously, pain as first symptom occurred in an expressive fashion (17/78). The predominant initial anatomic site, in this series, was the spinal cord, and mainly affecting the arms. As to the symptom accrual from region to region, this occurs more quickly in contiguous areas, and fasciculations are predominant when bulbar region was associated.KEY WORDS: ALS, sporadic, early-onset, pain, anatomy, symptom accrual, fasciculations. Esclerose lateral amiotrófica: análise clínica de 78 casos de Fortaleza (Nordeste Brasileiro)RESUMO -Descrevemos as características clínicas da esclerose lateral amiotrófica (ELA) em Fortaleza (Nordeste Brasileiro). Para isso, fizemos uma análise retrospectiva (de 1980 a 1999) de 78 casos de ELA do Serviço de Neurologia do Hospital Universitário de Fortaleza, diagnosticados do ponto de vista clínico e laboratorial (EMG, biópsia de músculo, mielografia, análises hematológica e bioquímica, e raio X da junção crânio-cervical). Os resultados mostraram que esses casos eram principalmente da forma esporádica (76/78), e estes foram divididos, de acordo com o nível de certeza diagnóstica, em definidos (n= 36), prováveis (n= 20), possíveis (n= 15) e suspeitos (n= 7). Eles foram também subdivididos nos grupos juvenil (n= 17), adulto jovem (n= 18), idadeespecífico (n= 39) e tardio (n= 4). Clinicamente, os principais sintomas iniciais foram fraqueza assimétrica (38/ 78) e simétrica (24/78) das extremidades, além de sinais bulbares, fasciculações e atrofia. Curiosamente, dor como sintoma inicial ocorria de maneira expressiva (17/78). O local anatômico inicial predominante foi, nessa série, a medula espinhal, afetando principalmente os braços. O avanço regional de sintomas ocorreu mais rapidamente em áreas contíguas, e as fasciculações eram predominantes quando a região bulbar estava associada. PALAVRAS-CHAVE: ELA, esporádica, início precoce, dor, anatomia, avanço dos sintomas, fasciculações.Amyotrophic lateral sclerosis (ALS) is a condition of undetermined cause, which affects the anterior horn cells and the corticospinal tract.The etiology is manifold so that different causes have been...

Section: Discussionmentioning

confidence: 53%

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

Castro-Costa

Oriá

Machado-Filho

et al. 1999

“…This could be explained by a toxic effect of a mutant SOD1 protein in the cerebrospinal fluid in men 28 . Norris et al 29 stated that gender differences diminished with increasing age. In contrast, Aguila et al 9 found that an older age and female gender were strongly associated with lower survival rates, and Norris et al 29 reported that women may show the first symptoms of ALS later in life than men, but men may experience longer courses with milder paralysis than women.…”

Section: Epidemiological Characteristicsmentioning

confidence: 99%

Epidemiological and clinical factors impact on the benefit of riluzole in the survival rates of patients with ALS

Fávero

Voos

Castro

et al. 2017

Objective To investigate the impact of epidemiological and clinical factors on the benefit of riluzole in patients with amyotrophic lateral sclerosis (ALS). Methods The survival rate of 578 patients with ALS (1999-2011) was analyzed by descriptive statistics and Kaplan-Meier curves. Considering the median of the sample survival time (19 months), patients were divided in two groups: below (B19) and above the median (A19). Kaplan-Meier curves compared the survival rates of patients treated with riluzole and with patients who did not take the medication. Results Riluzole increased the survival rates of patients with lower limb onset who were diagnosed after the first appointment in B19. Patients with bulbar onset and diagnosed on the first, or after the first appointment showed higher survival rates in A19. Males lived longer than females in both groups. Conclusion Epidemiological and clinical factors influenced the benefit of riluzole in the survival rates of patients with ALS.

“…Neles o início dos sintomas ocorreu abaixo dos 40 anos, idade abaixo da média encontrada para os nossos casos. Esta tendência ao início mais precoce da forma familiar da doença já foi demonstrada 6,19 . Em torno de 5 a 10 % dos casos de ELA são familiares, e nestes em torno de 20% são causados por mutações no gene da superoxido dismutase (SOD1), cuja herança é, na maioria dos casos, autossômica dominante 19 .…”

Section: Discussionunclassified

“…Para o diagnóstico de AMP foram utilizados critérios bem estabelecidos 6,11 , baseando-se na presença de todos os critérios de inclusão e de nenhum crité-rio de exclusão: Todos os pacientes foram submetidos a exames de ENMG dos 4 membros e da língua, RM da coluna cervical e da transição crânio-cervical e de LCR por punção lombar.…”

Section: Métodounclassified

See 1 more Smart Citation

Atrofia muscular progressiva: estudo clínico e laboratorial em onze pacientes

Ferraz

Zanoteli

Oliveira

et al. 2004

RESUMO -A atrofia muscular progressiva (AMP) é um tipo raro de doença do neurônio motor (DNM) com acometimento exclusivo do neurônio motor inferior (NMI) e com características clínicas bem definidas. A eletroneuromiografia é o principal exame subsidiário para a realização do diagnóstico, com demonstração de alterações neurogênicas generalizadas, agudas e crônicas. Outras doenças que mimetizam comprometimento do NMI devem ser excluídas através de investigação laboratorial ampla. Neste estudo são apresentados 11 casos de AMP (5,9% de todos os nossos casos de DNM), sendo 9 homens e 2 mulheres. O início dos sintomas ocorreu preferencialmente abaixo dos 50 anos, com média de idade de 45,5 anos. A cãibra foi o sintoma que mais comumente precedeu a fraqueza muscular. Outras queixas preliminares foram dor, fadiga muscular e fasciculações. O padrão mais freqüente de inauguração dos sintomas foi fraqueza muscular assimétrica, preferencialmente nos membros superiores. Com a evolução da doença, todos os pacientes apresentaram comprometimento bulbar. Não foi identificado nenhum fator predisponente para a doença, nem tampouco as evoluções foram distintas entre os casos. Oftalmoparesia e acometimento dos esfíncteres, sinais pouco comuns nas DNMs, foram observados em dois pacientes que se mantiveram por longo tempo em respiração artificial. As terapêuticas imunossupressoras / imunomodulatórias utilizadas (ciclofosfamida, gamaglobulina hiperimune, plasmaferese) não tiveram resultado favorável. A doença teve caráter progressivo em todos os casos. Todos os pacientes faleceram, com tempo médio de sobrevida de 44 meses. PALAVRAS-CHAVE: atrofia muscular progressiva, esclerose lateral amiotrófica, doenças do neurônio motor, doenças neuromusculares. Progressive muscular atrophy: clinical and laboratory study in eleven patientsABSTRACT -Progressive muscular atrophy (PMA), an infrequent type of motor neuron disease (MND), is a predominantly lower motor neuron degeneration, causing muscle wasting and weakness with loss of weight and fasciculations. The diagnosis is based on rigid criteria, considering clinical aspects and eletroneuromyography findings. Blood tests and radiological investigation are necessary to look for other diagnosis mimicking PMA. We herein present 11 patients with PMA (5.9% of all our MND patients), 9 men and 2 women, which onset of symptoms occurred mainly under de age of 50, with a mean of 45.5 years. Cramp was the most frequent symptom preceding muscular weakness. Muscle pain, fatigue and fasciculations were also cited as starting symptoms. Asymmetric weakness of the arms was the most frequent pattern of onset of the disease. Bulbar muscular weakness developed in all patients during the course of the disease. Predisposing factors and distinctive clinical outcome was not observed in any of the patients. Ophthalmoparesis and esfincter dysfunction were seen in two patients who had a prolonged time in artificial respiratory assistance. Imunnossupressive therapy was ineffective in all patients. Progressive course was se...