Prevalence and Diagnostic Journey of Friedreich's Ataxia in the State of São Paulo, Brazil.

Friedreich's Ataxia (FRDA) is the leading cause of ataxia worldwide, but data on epidemiology and diagnostic journey are scarce, particularly in Latin America. Herein we estimated the prevalence of FRDA in the most populous Brazilian state and characterized the diagnostic odyssey of the disease. We received anonymized data of patients with FRDA from advocacy groups and physicians. Prevalence was estimated dividing the number of patients by the population of the state as reported in the last census. Patients were invited to answer an online survey to describe clinical data and diagnostic journey of the disease. FRDA estimated prevalence was 0.367:100,000, with a slight predominance of women (58.2% vs 41.7%). One hundred and four patients answered the survey (mean age of 37.3 ± 13.8 years; 75.9% classical and 24.0% late onset). On average, 6.2 ± 4.1 physicians were visited before reaching the diagnosis. Mean diagnostic delay was 7.8 ± 6.7 years; no difference between classical and LOFA groups was found. Most of the patients reported unsteadiness and gait abnormalities as the first symptom. Neurologists and orthopedical surgeons were the main specialties first sought by patients. We found a prevalence of 0.36:100,000 for FRDA in the state of São Paulo, Brazil. The disease is characterized by remarkable diagnostic delay, with no relevant differences between classical and LOFA patients.

Rehabilitation in patients with cerebellar ataxias.

Cerebellar ataxias comprise a heterogeneous group of diseases characterized by motor and non-motor symptoms, which can be acquired, degenerative, or have a genetic cause, such as spinocerebellar ataxias (SCA). Usually, the genetic and neurodegenerative forms of cerebellar ataxias present a progressive and inevitable worsening of the clinical picture so that rehabilitation treatment is fundamental. Rehabilitation treatment includes physical therapy, respiratory therapy, speech, voice and swallowing therapy, occupational therapy, and new technologies, such as the use of exergames. The current treatment of patients with cerebellar ataxias, especially neurodegenerative forms, genetic or not, should include these different forms of rehabilitation, with the main objective of improving the quality of life of patients.

Avaliação clínica da relação entre postura, respiração e deglutição em paciente pós-acidente vascular cerebral na fase crônica: relato de caso / Clinical evaluation of the relationship of posture, breathing and swallowing in chronic-state post-stroke patients: case report

O Acidente Vascular Cerebral (AVC) é a doença neurológica que mais incapacita os adultos. A respiração, a postura e a deglutição possuem uma relação direta nesta doença, necessitando assim de uma intervenção multidisciplinar. O objetivo do presente estudo foi realizar uma avaliação clínica integrada para analisar a relação entres estas disfunções. Trata-se de uma paciente do sexo feminino com 37 anos, com seis anos de diagnóstico de AVC isquêmico com hemiparesia completa à direita de predomínio crural, hipertensão arterial sistêmica, disfagia e disartrofonia. Na anamnese, relatou sintomas referentes à dispnéia, dores na coluna lombar, presença de tosse e engasgos à alimentação e escape anterior de saliva, principalmente durante a fala. A paciente apresenta escoliose, hipercifose torácica e fraqueza dos músculos abdominais. A avaliação respiratória evidenciou uma força expiratória abaixo do limite esperado. O pico de fluxo da tosse está abaixo do esperado, demonstrando não possuir força para tossir. A investigação fonoaudiológica evidenciou alterações no tempo aumentado para se alimentar, necessidade de ingerir líquidos para ajudar na deglutição de sólidos, eventuais escapes anteriores de alimento, necessidade de deglutições múltiplas devido à sensação de estase em cavidade laringo-faríngea e diminuição do paladar, bem como saliva grossa e viscosa. Utilizando-se das avaliações fisioterápicas e fonoaudiológicas, foi possível concluir que uma paciente com AVC na fase crônica apresenta alterações respiratórias que podem impedi-la de proteger com eficiência as vias aéreas inferiores, o que, somado às alterações posturais e na deglutição demonstram a importância da avaliação integrada para futuras intervenções terapêuticas mais eficazes.

The Stroke is a neurological disorder that disables more adults. The breathing, posture and swallowing have a direct relationship in this disease, thus requiring a multidisciplinary approach. The goal of this study was to conduct a clinical evaluation integrated to analyze the relationship between these disorders. This case is a female patient aged 37 with six years of diagnosis of ischemic stroke with right hemiparesis complete predominantly crural, hypertension, dysphagia and dysarthrophonia. In history, reported symptoms related to dyspnea, pain in the lumbar spine, the presence of coughing and choking and drooling to food, especially during the speech. The patient has scoliosis, thoracic kyphosis and abdominal weakness. The evaluation showed a respiratory expiratory force below the expected range. The peak cough flow is lower than expected, demonstrating not have the strength to cough. The research revealed changes in speech increased time to eat, need to drink to help swallow solid food before any leaks, the need for multiple swallows due to the sense of stasis in laryngeal-pharyngeal cavity and decreased taste and thick and viscous saliva. Using physical and speech therapy evaluations, we concluded that a patient with stroke in chronic respiratory presents alterations that may prevent it from effectively protecting the lower airways, which, added to postural changes and swallowing show the importance of integrated assessment for future therapeutic interventions more effective.

Circadian variation of fatigue in both patients with paralytic poliomyelitis and post-polio syndrome.

OBJECTIVE: It was to evaluate the degree of fatigue in patients with paralytic poliomyelitis (PP) and with post-polio syndrome (PPS), and correlate it with parameters of sleep and the circadian cycle. METHODS: Thirty patients, 17 female (56.7%), participated in the study: they answered the Revised Piper Fatigue Scale and performed a nocturnal polysomnographic study. Eleven had PP (mean age±standard deviation of 47.9±6.4 years), and 19 had PPS (mean age±standard deviation of 46.4±5.6 years). RESULTS: Our study showed that fatigue was worse in the afternoon in the PP Group and had a progressive increase throughout the day in the PPS Group. We also observed compromised quality of sleep in both groups, but no statically significant difference was found in the sleep parameters measured by polysomnography. CONCLUSION: Fatigue has a well-defined circadian variation, especially in PPS Group. Poor sleep quality is associated with fatigue and, therefore, sleep disturbances should be evaluated and treated in this group of PPS.

Circadian variation of fatigue in both patients with paralytic poliomyelitis and post-polio syndrome / Variacao circadiana da fadiga em ambos os grupos de pacientes com poliomielite paralitica e sindrome pos-poliomielite

Objective It was to evaluate the degree of fatigue in patients with paralytic poliomyelitis (PP) and with post-polio syndrome (PPS), and correlate it with parameters of sleep and the circadian cycle. Methods Thirty patients, 17 female (56.7%), participated in the study: they answered the Revised Piper Fatigue Scale and performed a nocturnal polysomnographic study. Eleven had PP (mean age±standard deviation of 47.9±6.4 years), and 19 had PPS (mean age±standard deviation of 46.4±5.6 years). Results Our study showed that fatigue was worse in the afternoon in the PP Group and had a progressive increase throughout the day in the PPS Group. We also observed compromised quality of sleep in both groups, but no statically significant difference was found in the sleep parameters measured by polysomnography. Conclusion Fatigue has a well-defined circadian variation, especially in PPS Group. Poor sleep quality is associated with fatigue and, therefore, sleep disturbances should be evaluated and treated in this group of PPS. .

Objetivo Foi avaliar o grau de fadiga em pacientes com poliomielite paralítica (PP) e com síndrome pós-poliomielite (SPP), e correlaciona-lo com parâmetros de sono e ciclo circadiano. Método Trinta pacientes, 17 do sexo feminino (56,7%), participaram do estudo: responderam à Escala de Fadiga de Piper Revisada e submeteram-se à avaliação polissonográfica noturna. Onze apresentavam PP (média de idade±desvio padrão de 47,9±6,4 anos), e 19 apresentavam SPP (média de idade±desvio padrão de 46,4±5,6 anos). Resultados Nosso estudo mostrou que a fadiga é pior no período da tarde no grupo com PP e piora progressivamente ao longo do dia no grupo SPP. Observamos também comprometimento na qualidade do sono em ambos os grupos. Contudo, os parâmetros do sono avaliados pela polissonografia não demonstraram diferenças estatísticas significantes entre os grupos PP e SPP. Conclusão A fadiga apresenta variação circadiana bem definida, especialmente nos pacientes do grupo SPP. Pobre qualidade do sono está associada com fadiga e, portanto, distúrbios do sono deveriam ser mais bem avaliados e tratados no grupo de pacientes com SPP. .

Síndrome pós-poliomielite (SPP): orientações para profissionais de saúde

As doenças neuromusculares representam um grupo de afecções que comprometem a unidade motora, ou seja, o corpo celular do neurônio motor inferior, o seu prolongamento, a junção neuromuscular ou o tecido muscular. Dentre as doenças neuromusculares, encontram-se as lesões neuronais motoras, que são condições nas quais há alterações morfológicas ou bioquímicas que ocorrem no corpo do neurônio. A lesão neuronal motora caracteriza-se por envolvimento do corpo celular do neurônio motor inferior (NMI). As principais doenças são: poliomielite anterior aguda (Pólio), atrofia muscular espinhal progressiva (AMEP) e doença do neurônio motor (DNM). A síndrome pós-poliomielite(SPP)é um transtorno neurológico, denro do capítulo dos efeitos tardios da poliomielite, caracterizados por nova fraqueza muscular e/ou fadiga muscular anormal em indivíduos que tiveram poliomielite aguda, muitos anos antes. A SPP encontra-se na categoria das doenças do nerônio motor (neuronopatia motora) em virtude dos quadros clínico e histológico estarem intimamente relacionados com disfunção dos neurônios motores inferiores.