Correlação entre funcionalidade bulbar e penetração e/ou aspiração laringotraqueal na doença do neurônio motor / Correlation between bulbar functionality and laryngeal penetration and/or laryngotracheal aspiration on motor neuron disease

RESUMO Objetivo Descrever e correlacionar a funcionalidade bulbar com penetração e aspiração laringotraqueal em distintas consistências de alimento na Doença do Neurônio Motor (DNM). Método Participaram do estudo 18 indivíduos diagnosticados com DNM, independentemente do tipo e tempo da doença. Foi aplicada a escala Amyotrophic Lateral Sclerosis Functional Rating Scale-Revised/BR (ALSFRS-R/BR), sendo analisado apenas o parâmetro bulbar que compreende fala, salivação e deglutição, com pontuação de 0 (incapacidade) a 12 (funcionalidade normal). Realizou-se videofluoroscopia da deglutição com aplicação da Penetration-Aspiration Scale (PAS) descrita por Rosenbek et al. (1996). Realizado Teste de Correlação de Pearson. Resultados Considerando a consistência do alimento, o nível da PAS variou de 1 a 5 na consistência pastosa, de 1 a 4 na líquida espessada e de 1 a 3 na líquida rala, e não houve aspiração laringotraqueal. Para todas as consistências de alimentos, houve correlação negativa entre funcionalidade bulbar e penetração laríngea (pastoso: r=-0,487, p=0,041; líquido espessado: r=-0,442, p=0,076; líquido ralo: r=-0,460, p=0,073), porém somente na consistência pastosa houve diferença estatística significante, ou seja, indivíduos com baixa funcionalidade bulbar apresentaram maior nível de penetração laríngea. Conclusão Houve correlação negativa entre funcionalidade bulbar e penetração laríngea na DNM. Os parâmetros bulbares da escala ALSFRS-R/BR mostraram-se significantes para predizer risco de penetração laringotraqueal na consistência pastosa na DNM.

ABSTRACT Objective Describe and correlate bulbar functionality with laryngeal penetration and/or laryngotracheal aspiration for different food consistencies in Motor Neuron Disease (MND). Methods Study participants were 18 individuals diagnosed with MND regardless of the type and time of onset of disease. The Amyotrophic Lateral Sclerosis Functional Rating Scale - Revised/BR (ALSFRS-R/BR) was applied, and only the bulbar parameter, which includes speech, salivation and swallowing, was analyzed, with scores raging from 0 (disability) to 12 (normal functionality). Swallowing videofluoroscopy was performed using the Penetration-Aspiration Scale (PAS) described by Rosenbek et al. (1996). The Pearson correlation test was used for data analysis. Results According to food consistency, the PAS level ranged from 1 to 5 for puree consistency, 1 to 4 for thickened liquid, and 1 to 3 for liquid, and no laryngotracheal aspiration was observed. Negative correlation between bulbar functionality and laryngeal penetration was observed for all food consistencies (pasty: r=-0.487, p=0.041; thickened liquid: r=-0.442, p=0.076; liquid r=0.460, p=0.073), but statistically significant difference was found only for the puree consistency, that is, individuals with poor bulbar functionality presented higher levels of laryngeal penetration. Conclusion Negative correlation was observed between bulbar functionality and laryngeal penetration in MND. The bulbar parameters of the ALSFRS-R/BR are significant for predicting risk of laryngotracheal aspiration for pasty consistency in MND.

Is magnetic resonance imaging a plausible biomarker for upper motor neuron degeneration in amyotrophic lateral sclerosis/primary lateral sclerosis or merely a useful paraclinical tool to exclude mimic syndromes? A critical review of imaging applicability in clinical routine / A ressonância magnética é um biomarcador aceitável da degeneração do neurônio motor superior em esclerose lateral amiotrófica/esclerose lateral primária ou apenas um instrumento paraclínico útil para a exclusão das síndromes mimetizadoras? Uma revisão crítica da aplicabilidade da imagem na rotina clínica

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that affects motor neurons in the cerebral cortex, brainstem, and spinal cord, brain regions in which conventional magnetic resonance imaging is often uninformative. Although the mean time from symptom onset to diagnosis is estimated to be about one year, the current criteria only prescribe magnetic resonance imaging to exclude "ALS mimic syndromes". Extensive application of non-conventional magnetic resonance imaging (MRI) to the study of ALS has improved our understanding of the in vivo pathological mechanisms involved in the disease. These modern imaging techniques have recently been added to the list of potential ALS biomarkers to aid in both diagnosis and monitoring of disease progression. This article provides a comprehensive review of the clinical applicability of the neuroimaging progress that has been made over the past two decades towards establishing suitable diagnostic tools for upper motor neuron (UMN) degeneration in ALS.

A esclerose lateral amiotrófica (ELA) é uma doença neurodegenerativa fatal que afeta os neurônios motores em regiões nas quais a ressonância magnética (RM) é frequentemente pouco informativa. Embora o tempo médio desde a manifestação inicial até o diagnóstico esteja em torno de um ano, os critérios atuais apenas recomendam o emprego da RM para excluir as "síndromes mimetizadoras da ELA". A maior aplicação da RM não convencional tem melhorado nossa compreensão sobre os mecanismos patológicos in vivo envolvidos na ELA. Estas modernas técnicas de imagem foram adicionadas à lista de potenciais biomarcadores da ELA, contribuindo para o diagnóstico e para a monitorização da progressão da doença. Esta é uma revisão detalhada da aplicabilidade clínica dos recentes avanços da neuroimagem, que visa apontar as ferramentas mais apropriadas para o diagnóstico da degeneração do neurônio motor superior (NMS).

Paraneoplastic motor neuron disease resembling amyotrophic lateral sclerosis in a patient with renal cell carcinoma

To report an unusual paraneoplastic syndrome, amyotrophic lateral sclerosis, associated with renal cell carcinoma. Case Presentation and Intervention: A 59-year-old man presented with muscle weakness and fasciculations in the upper extremities. Neurological examination showed that the fasciculations arose spontaneously in the upper limbs. Electrodiagnostic studies revealed an active neurogenic disorder. The patient was diagnosed with a motor neuron disease mimicking amyotrophic lateral sclerosis. Urine analysis revealed microscopic hematuria. Abdominal computerized tomography scans showed a 9.5 x 8 cm renal mass in the lower pole of the right kidney. Curative right radical nephrectomy was performed. Pathologic examination showed a clear cell adenocarcinoma. After nephrectomy, the muscle weakness and fasciculations disappeared spontaneously within 2 months. The patient was disease-free for 58 months after right radical nephrectomy. He complained of muscle weakness and fasciculation at the last follow-up again. Physical examination revealed fasciculation in the upper limbs. Abdominal tomography showed a 22 x 20 mm solid mass in the lower pole of the left kidney. Kidney-saving surgery was performed and the diagnosis of renal cell carcinoma was confirmed pathologically. Following surgery, fasciculations completely disappeared and muscle weakness diminished within 3 months. This case highlights motor neuron disease as a rare paraneoplastic syndrome in association with renal cell carcinoma and resolution after removal of the tumor

Reabilitação na Esclerose Lateral Amiotrofica: revisão da literatura / Rehabilitation in Amyotrophic Lateral Sclerosis: literature review

A Esclerose Lateral Amiotrófica é uma patologia do Neurônio Motor que traz um grande grau de incapacidade. Em todo o mundo existe uma tendência a elaborar manuais de uniformização na abordagem desta população, principalmente no que se refere à reabilitação equalidade de vida. Levantamos os guidelines publicados para este fim, de maneira não sistemática estrita, e elaboramos a partir destes, uma proposta de manual adaptado a realidade brasileira, atualizado, abrangente e simples.

Síndrome do homem no barril doenças do neurônio motor: a propósito de 5 casos / Man-in-the-barrel syndrome in motor neuron disease: on purpose of 5 cases

A Síndrome do Homem no Barril (SHB) faz referência a um quadro de paresia/plegia braquial bilateral que influencia na execução de funções relacionadas aos membros superiores, principalmente as que requerem movimentos de flexão e abdução. Desde sua descrição inicial, inúmeros casos foram relatados de pacientes com essa síndrome, cuja etiopatogenia difere daquela descrita inicialmente. Apresentamos 5 casos de SHB relacionados a doenças do neurônio motor e, discutimos, com base na literatura vigente, os achados do exame neurológico, prejuízosfuncionais e exames complementares. As mais frequentes causas de SHB são distúrbios vasculares cerebrais, cirurgias cardíaca e extracardíaca com demonstração de hipotensão arterial, metásteses cerebrais, e o envolvimento da ponte e medula espinhal cervical. O substrato fisiopatológico que se relaciona a SHB, em alguns casos, é incerto e merece atenção. Atentamos para a SHB em determinadas doenças do neurônio motor, principalmente nas Amiotrofias Espinhais Progressivas e na Esclerose Lateral Amiotrófica.

The Man-in-the-Barrel syndrome (MBS) makes reference to a picture of bilateral brachial weakness/paralysis, that influences the patients in the execution of functions related with the upper limbs, mainly those that require flexion and abduction movement. Since its initial description, several cases were reported of patients with this syndrome, whose etiology differs from the first one described. We present 5 cases of MBS related to motor neuron diseases, and discuss, based on the literature, the findings of the neurological examination, functional impairments and complementary exams. The most frequent causes of MBS are cerebral vascular disorders, cardiac and extracardiac surgeries with demonstration of arterial hypotension, cerebral metastases, pontine and spinal cord involvement. The pathophysiological substratum related to MBS, in some cases, is uncertain and deserves attention. We call the attention to MBS in some motor neuron disease, especially in Progressive Spinal Atrophy and Amyotrophic Lateral Sclerosis.

Distal spinal muscular atrophy.

Spinal muscular atrophies (SMA) are clinically heterogenous group of motor system disorders characterised by progressive pure lower motor neuron involvement. The distal form of SMA is an extremely rare disorder, which presents in the adults and has a relatively slow progression with almost no effect on the patients' life-span. Differential diagnosis of this syndrome include other forms of neuromuscular disorders with peroneal muscular atrophy like hereditary motor sensory neuropathy (HMSN) and distal myopathies, which need exclusion before confirming this rare entity. We present a young male with this disorder and briefly discuss the theoretical aspects.

Neuropatia motora multifocal: respuesta inmediata a la inmunoglobulina endovenosa / Multifocal motor neuropathy: immediate response to intravenous immunoglobulin

La neuropatía motora multifocal, una entidad inmuno-mediada, infrecuente e insidiosa, se caracteriza por debilidad y atrofia muscular, como asimismo arreflexia debido a bloqueo de conducción nerviosa y se halla a menudo asociada con la presencia de anticuerpos anti-GM1. Describimos un paciente con nueve años de debilidad de miembros superiores, erróneamente diagnosticada como esclerosis lateral amiotrófica, quien respondió en horas al tratamiento con inmunoglobulina intravenosa con plena recuperación de la fuerza muscular. Este caso destaca la necesidad de evaluar la existencia de bloqueo de conducción en pacientes con síntomas de compromiso de neurona motora inferior

Motor neuron diseases in the University Hospital of Fortaleza (Northeastern Brazil): a clinico-demographic analysis of 87 cases

In this retrospective (1980-1998) study, we have analyzed clinico-demographically, from the records of the University Hospital of Fortaleza (Brazil), a group of 87 patients showing signs and symptoms of motor neuron diseases (MNDs). Their diagnosis was determined clinically and laboratorially. The WFN criteria were used for amyotrophic lateral sclerosis (ALS) diagnosis. The clinico-demographic analysis of the 87 cases of MNDs showed that 4 were diagnosed as spinal muscular atrophy (SMA), 5 cases as ALS subsets: 2 as progressive bulbar paralysis (PBP), 2 as progressive muscular atrophy (PMA) and 1 as monomelic amyotrophy (MA), and 78 cases of ALS. The latter comprised 51 males and 27 females, with a mean age of 42.02 years. They were sub-divided into 4 groups according to age: from 15 to 29 years (n= 17), 30 to 39 years (n= 18), 40 to 69 years (n= 39) and 70 to 78 years (n= 4). From the 78 ALS patients, 76 were of the classic sporadic form whilst only 2 were of the familial form. The analysis of the 87 patients with MNDs from the University Hospital of Fortaleza showed a predominance of ALS patients, with a high number of cases of juvenile and early onset adult sporadic ALS

Clinical experience of motor neurone disease

Motor Neurone Disease [MND] is an adult onset idiopathic, progressive and ultimately fatal degenerative neurological disorder, involving both upper and lower motor neurons in the cerebral cortex, brain stem and spinal cord. Recent studies revealed additional degeneration of some other areas of brain. No definite cause or treatment is known. Clinically it has been shown to have different onset forms, which frequently evolve into a common clinical entity known as A.l.S. This study, describes clinical pattern of MND in a portion of Pakistani population who presented at Neurology Department of Civil Hospital Karachi during the period 1992 - 1998. Total of 29 cases fulfilled the diagnostic criteria; all the cases were sporadic, except an elderly male patient with pure lower motor neuron illness. Twentyeight cases presented with combination of upper and lower motor neuron signs. Of these, 8 had bulbar onset and later spinal features. Twenty had spinal onset, out of them 7 developed additional bulbar symptoms and 13 retained the features of onset at the time of presentation. Overall mean age of onset was 43 +/- 9 years, about a decade younger than European population and nearer to South Asian studies. Spinal onset form affected mostly young males [male: female ratio 19:1] and bulbar onset form affected elderly patients with equal sex ratio. However male to female ratio, considering all cases, was 4.8:1. Females were observed to be relatively spared during the reproductive age period. Rate of progression was slow to moderately rapid. Only two patients had fulminant course

A case of multifocal motor neuropathy.

We report here a patient with multifocal motor neuropathy (MMN). He had typical clinical features, and electrophysiological investigations confirmed the diagnosis. This is the first case of MMN to be documented in Sri Lanka.

Madras pattern of motor neuron disease: case report from Thailand.

A 38-year-old male farmer with classical features of Madras type motor neuron disease was reported. The benign focal atrophy of extremities especially the upper extremities and associated hearing impairment are important clues to the clinical diagnosis. Although there is no pathologic proof of this subgroup of motor neuron disease our data and previous reports strongly suggest anterior horn cell disease and motor nuclei involvement in the brainstem. The nature of the lesion which is responsible for auditory impairment is still controversial.