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Introdução: A Síndrome da Pessoa Rígida é uma doença neuroimunológica rara do sistema nervoso central caracterizada por espasmos dolorosos e rigidez progressiva que envolvem os músculos proximais dos membros e axiais do tronco. A forma clássica tem início insidioso com piora gradual ao longo do tempo e muitas vezes leva à incapacidade permanente. Objetivo: Analisar os estudos publicados na literatura científica que utilizaram a reabilitação fisioterapêutica como proposta de tratamento dos sintomas motores na Síndrome da Pessoa Rígida. Método: Trata-se de uma revisão integrativa da literatura realizada no período de julho a dezembro de 2022 nas bases de dados PubMed, SciELO, LILACS e BVS. Resultados: Foram encontrados 12 artigos publicados entre o período de 2002 a 2021, que discorriam sobre o tratamento fisioterapêutico nesta população. O número escasso de estudos se dá pela raridade da patologia que dificulta a realização de ensaios clínicos robustos. Os artigos selecionados eram relatos de casos de um ou mais indivíduos, com enfoque nas intervenções realizadas de acordo com cada queixa funcional apresentada, sendo estas a dor, fraqueza muscular, hipomobilidade articular, rigidez, instabilidade postural, alterações na marcha e limitações nas atividades de vida diária. Conclusão: A reabilitação fisioterapêutica faz parte do tratamento sintomatológico e tem como finalidade, auxiliar na manutenção da funcionalidade e qualidade de vida, minimizando as repercussões motoras que são desencadeadas pela síndrome.

Introduction: Stiff Person Syndrome is a rare neuroimmunological disease of the central nervous system characterized by painful spasms and progressive rigidity involving the proximal muscles of the limbs and axial muscles of the trunk. The classic form has an insidious onset with gradual worsening over time and often leads to permanent disability. Objective: To analyze the studies published in the scientific literature that used hysiotherapeutic rehabilitation as a proposal for treating motor symptoms in Stiff Person Syndrome. Method: This is an integrative review of the literature carried out from July to December 2022 in the PubMed, SciELO, LILACS and VHL databases. Results: 12 articles published between 2002 and 2021 were found, which discussed physiotherapeutic treatment in this population. The scarce number of studies is due to the rarity of the pathology, which makes it difficult to carry out robust clinical trials. The selected articles were case reports of one or more individuals, focusing on interventions carried out according to each functional complaint presented, these being pain, muscle weakness, joint hypomobility, stiffness, postural instability, changes in gait and limitations in walking activities. daily life. Conclusion: Physiotherapy rehabilitation is part of symptomatological treatment and aims to help maintain functionality and quality of life, minimizing the motor repercussions that are triggered by the syndrome.

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Juvenile Amyotrophic Lateral Sclerosis is a genetically heterogeneous neurodegenerative disorder, which is frequently misdiagnosed due to low clinical suspicion and little knowledge about disease characteristics. More than 20 different genetic loci have been associated with both sporadic and familial juvenile Amyotrophic Lateral Sclerosis. Currently, almost 40% of cases have an identifiable monogenic basis; type 6, associated with FUS gene variants, is the most prevalent globally. Despite several upper motor neuron-dominant forms being generally associated with long-standing motor symptoms and slowly progressive course, certain subtypes with lower motor neuron-dominant features and early bulbar compromise lead to rapidly progressive motor handicap. For some monogenic forms, there is a well-established genotypic-phenotypic correlation. There are no specific biochemical and neuroimaging biomarkers for the diagnosis of juvenile Amyotrophic Lateral Sclerosis. There are several inherited neurodegenerative and neurometabolic disorders which can lead to the signs of motor neuron impairment. This review emphasizes the importance of high clinical suspicion, assessment, and proper diagnostic work-up for juvenile Amyotrophic Lateral Sclerosis.

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La atrofia muscular espinal (AME) de presentación temprana representa la variante más severa, con una expectativa de vida generalmente no mayor a dos años sin soporte ventilatorio, debido a la insuficiencia respiratoria y la dificultad para toser. Tradicionalmente, el manejo respiratorio en muchos países ha incluido la traqueostomía para proporcionar asistencia ventilatoria invasiva de manera continua. No obstante, la introducción de medicamentos de precisión ha modificado la progresión natural de la enfermedad, evidenciando mejoras significativas en los hitos motores y beneficiando también la función respiratoria. A pesar de estas mejoras, en muchos casos sigue siendo necesaria la ventilación intermitente y/o continua, además de la facilitación de la tos. Estas necesidades pueden abordarse de forma no invasiva mediante el soporte ventilatorio no invasivo (SVN), la in-exsuflación mecánica (IEM) y el reclutamiento de volumen pulmonar (RVP), que son considerados pilares del tratamiento respiratorio en enfermedades neuromusculares. Estas estrategias promueven el desarrollo y mantenimiento de la función respiratoria, reduciendo el riesgo de exacerbaciones respiratorias que podrían llevar a intubaciones evitables. Comúnmente, los pacientes con AME experimentan intentos fallidos de extubación siguiendo protocolos tradicionales, siendo catalogados como no extubables y potenciales candidatos a traqueostomía. No obstante, existen protocolos de extubación específicos para AME que emplean SVN e IEM con un alto porcentaje de éxito, evitando traqueostomías innecesarias que pueden complicar la progresión de la enfermedad y afectar la calidad de vida. El enfoque respiratorio no invasivo es una opción de manejo segura tanto en el hospital como en el hogar, ofreciendo una mejor calidad de vida para los pacientes y sus familias.

Early-onset spinal muscular atrophy (SMA) is the most severe variant, with a life expectancy generally not exceeding two years without ventilatory support due to respiratory insufficiency and difficulty in coughing. Traditionally, respiratory management in many countries has included tracheostomy to provide continuous invasive ventilatory support. However, the introduction of precision medicine has altered the natural progression of the disease, showing significant improvements in motor milestones and also benefiting respiratory function. Despite these improvements, many cases still require intermittent and/or continuous ventilation, as well as cough facilitation. These needs can be addressed non-invasively through non-invasive ventilatory support (NIV), mechanical insufflation-exsufflation (MIE), and lung volume recruitment (LVR), which are considered the pillars of respiratory treatment in neuromuscular diseases. These strategies promote the development and maintenance of respiratory function, reducing the risk of respiratory exacerbations that could lead to avoidable intubations. Commonly, SMA patients experience failed extubation attempts following traditional protocols, being labeled as non-extubatable and potential candidates for tracheostomy. Nevertheless, there are specific extubation protocols for SMA that employ NIV and MIE with a high success rate, avoiding unnecessary tracheostomies that can complicate disease progression and impact quality of life. The non-invasive respiratory approach is a safe management option both in the hospital and at home, offering a better quality of life for patients and their families.

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Abstract Background To be objective and achievable, the rehabilitation goals must be focused on the functional expectations of patients with neuromuscular disease (NMD). Objective Investigate rehabilitation programs that are able to modify the activity/participation of patients with NMD. Data search: Embase, BVS/Lilacs, Physiotherapy Evidence Database (PEDro), CINAHL/EBSCO, and Medline were searched in June 2021. It was last updated in March 2023. Methods Randomized controlled trials investigating any rehabilitation therapy for patients with NMD with an outcome encompassing the activity/participation components of the International Classification of Functioning, Disability and Health (ICF) were included. Pharmacological therapy studies were excluded. The results were synthesized according to the ICF core sets for NMD. The methodological quality and level of evidence were assessed using PEDro criteria and Grading of Recommendations Assessment, Development, and Evaluation (GRADE). This systematic review followed the PRISMA 2020 guideline and was registered at PROSPERO (CRD42020209359). Results Of a total of 1943 identified studies, 12 were included in this review with a methodological quality between regular and good. Light to moderate-intensity aerobic exercise was the most studied intervention. The mobility was assessed in all included studies. Conclusion The variability of the types of NMD and the small sample size of the included studies demonstrates that there is very limited evidence of interventions focused on the activity/participation of individuals with NMD. Light to moderate-intensity aerobic exercise seems to improve the mobility, self-care, and social participation of patients with NMD, especially those with slow progression.

Resumo Antecedentes As metas de reabilitação devem ser focadas nas expectativas funcionais de pessoas com doenças neuromusculares (DNM) para que sejam objetivas e alcançáveis. Objetivo Investigar programas de reabilitação capazes de modificar a atividade/participação de pessoas com DNM. Foi realizada busca nas bases de dados: Embase, BVS/Lilacs, Physiotherapy Evidence Database (PEDro), CINAHL/EBSCO e Medline em junho/2021. A última atualização foi realizada em março de 2023. Métodos Foram incluídos estudos clínicos randomizados investigando qualquer terapia de reabilitação para pessoas com DNM com desfecho voltado para atividade/participação da Classificação Internacional de Funcionalidade e Saúde (CIF). Terapias farmacológicas foram excluídas. Os resultados foram sintetizados de acordo com os Core Sets da CIF para DNM. A qualidade metodológica e o nível de evidência foram avaliados usando os critérios PEDro e Grading of Recommendations Assessment, Development, and Evaluation (GRADE). Esta revisão sistemática foi registrada na PROSPERO (CRD42020209359). Resultados De 1943 estudos identificados, 12 foram incluídos com uma qualidade metodológica entre regular e boa. O exercício aeróbio de intensidade leve a moderada foi a intervenção mais estudada. A mobilidade foi avaliada em todos os estudos incluídos. Conclusão A variabilidade dos tipos de DNM e o baixo número amostral dos estudos incluídos contribuem para uma evidência muito limitada de intervenções focadas na atividade/participação de pessoas com DNM. O exercício aeróbio de baixa a moderada intensidade parece melhorar a mobilidade, autocuidado e participação de pessoas com DNM, especialmente para as DNM de progressão lenta.

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Abstract Introduction: Duchenne muscular dystrophy (DMD) is a recessive genetic disease linked to the X chromosome, leading to progressive muscle tissue loss. Initially, there is difficulty getting up from the floor and an increased frequency of falls. Maintaining ambulation as long as possible is essential, and the use of ankle-foot orthosis (AFO) has been investigated as an ally in this process. Objective: To verify the prescription and use of an AFO for ambulant boys with DMD. Methods: Information was collected using the medical records of 181 patients with DMD from the Neuropediatric Service of the Instituto de Puericultura e Pediatria Martagão Gesteira of the Universidade Federal do Rio de Janeiro. Variables used were: age at the first medical appointment, age at first symptoms, age at loss of independent gait, time between the first symptoms and loss of gait, prescription of orthosis, time of use, and surgical intervention in the lower limbs. Results: The orthosis was prescribed for 63.5% of patients and used by 38.1%. The range of orthosis time was 2 to 4 years (62.3%). The night sleep period was the most prescribed for orthosis use, with 67.2%. Patients who used the orthosis for a longer time were older at gait loss. However, the children who arrived earlier for the first appointment had a higher frequency of orthosis prescriptions and later loss of gait. Conclusion: The use of AFO can help maintain ambulation for longer in boys with DMD.

Resumo Introdução: A distrofia muscular de Duchenne (DMD) é uma doença genética recessiva ligada ao cromossomo X, que cursa com a perda progressiva do tecido muscular. Inicialmente, observa-se dificuldade para levantar do chão e aumento dafrequência de quedas. A manutenção da deambulação pelo maior tempo possível é importante e o uso de órtese tornozelo-pé (OTP) tem sido investigado como aliado nesse processo. Objetivo: Verificar a prescrição e uso de OTP para meninos deambulantes com DMD. Métodos: As informações foram coletadas dos prontuários de 181 pacientes com DMD do Serviço de Neuropediatria do Instituto de Puericultura e Pediatria Martagão Gesteira, da Universidade Federal do Rio de Janeiro. As variáveis utilizadas foram: idade na primeira consulta, idade aos primeiros sintomas, idade na perda da marcha independente, tempo entre os primeiros sintomas e a perda da marcha, prescrição de órtese, tempo de uso e intervenção cirúrgica nos membros inferiores. Resultados: A órtese foi prescrita para 63,5% dos pacientes e utilizada por 38,1%. A variação do tempo de uso foi de 2 a 4 anos (62,3%). O período noturno foi o mais prescrito para uso da órtese, com 67,2%. Os pacientes que a usaram por mais tempo apresentaram maiores idades na perda da marcha. Crianças que chegaram mais precocemente à primeira consulta tiveram maior frequência de prescrição de órtese e perda da marcha mais tardiamente. Conclusão: O uso de OTP pode ajudar a manter a deambulação por mais tempo em meninos com DMD.

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Dystrophinopathies are muscle diseases caused by pathogenic variants in DMD, the largest gene described in humans, representing a spectrum of diseases ranging from asymptomatic creatine phosphokinase elevation to severe Duchenne muscular dystrophy (DMD). Several therapeutic strategies are currently in use or under development, each targeting different pathogenic variants. However, little is known about the genetic profiles of northeast Brazilian patients with dystrophinopathies. We describe the spectrum of pathogenic DMD variants in a single center in northeast Brazil. This is an observational, cross-sectional study carried out through molecular-genetic analysis of male patients diagnosed with dystrophinopathies using Multiplex Ligation-dependent Probe Amplification (MLPA) followed by Next-Generation Sequencing (NGS)-based strategies. A total of 94 male patients were evaluated. Deletions (43.6%) and duplications (10.6%) were the most recurring patterns of pathogenic variants. However, small variants were present in 47.1% of patients, most of them nonsense variants (27.6%). This is the largest South American single-center case series of dystrophinopathies to date. We found a higher frequency of treatment-amenable nonsense single-nucleotide variants than most previous studies. These findings may have implications for diagnostic strategies in less-known populations, as a higher frequency of nonsense variants may mean a higher possibility of treating patients with disease-modifying drugs.

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Introducción: En las enfermedades neuromusculares la disminución de la capacidad vital se relaciona con disminución de la capacidad tusígena y luego ventilatoria, la combinación de ambas genera complicaciones graves por falla ventilatoria. En los pacientes que son intubados, limita la extubación, sino se realizan cuidados respiratorios especializados. El conocimiento y aplicación de los profesionales que atienden a estos pacientes en cuidados intensivos resulta esencial. Objetivos: Reportar el conocimiento y aplicación especializada de cuidados respiratorios en enfermedades neuromusculares en las Unidades de Cuidados Intensivos. Materiales y métodos: Estudio cualitativo, descriptivo de corte transversal, no probabilístico, a criterio. La población accesible fueron profesionales de la Salud de las Unidades de Cuidados Intensivos, y el análisis de las respuestas de una encuesta estructurada, enviada a distintos profesionales a nivel mundial. Resultados: Se incluyeron los cuestionarios de 41 profesionales, el 34% de los profesionales reportaron la utilización regular de Asistente Mecánico de la Tos; 22% refirieron la utilización regular de apilamiento de aire; 31% reportaron la utilización regular de Asistencia Ventilatoria No Invasiva, 56.1% de los profesionales afirmaron conocer la diferencia entre Ventilación No Invasiva y Soporte Ventilatorio No Invasivo, 34% de los profesionales refirieron tener formación especializada en el área. Conclusión: Pese a existir una alta proporción de profesionales con conocimiento especializado, un grupo importante no los aplica rutinariamente. La justificación es principalmente por la dificultad de adquisición y financiación de los equipos necesarios.

Introduction: In neuromuscular diseases, the decrease in vital capacity relates to decreased coughing and then ventilatory capacity, the combination of both generating serious complications due to ventilatory failure. In intubated patients, the extubation process is difficult unless specialized respiratory care is provided. The knowledge and treatment application of the professionals who care for these patients in intensive care is of outmost importance. Objectives: Report the knowledge and specialized application of respiratory care in neuromuscular diseases in Intensive Care Units. Materials and methods: Qualitative, descriptive, cross-sectional, non-probabilistic study, at criteria. The accessible population were Health professionals from the Intensive Care Units, and the analysis of the responses of a structured survey, sent to different professionals worldwide. Results: The questionnaires of 41 professionals were included, 34% of the professionals reported the regular use of the Mechanical Cough Assistant; 22% reported the regular use of air stacking; 31% reported the regular use of Non-Invasive Ventilatory Assistance. 56.1% of the professionals stated that they knew the difference between Non-Invasive Ventilation and Non-Invasive Ventilatory Support, 34% of the professionals reported having specialized training in the area. Conclusion: Despite the existence of a high proportion of professionals with specialized knowledge, an important group does not routinely apply them. The justification is mainly due to the difficulty of acquiring and financing the necessary equipment.

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Introducción: En las enfermedades neuromusculares la disminución de la capacidad vital se relaciona con dismunición de la capacidad tusígena y luego ventilatoria, la combinación de ambas genera complicaciones graves por falla ventilatoria. En los pacientes que son intubados, limita la extubación, sino se realizan cuidados respiratorios especializados. El conocimiento y aplicación de los profesionales que atienden a estos pacientes en cuidados intensivos resulta esencial. Objetivos: Reportar el conocimiento y aplicación especializada de cuidados respiratorios en enfermedades neuromusculares en las Unidades de Cuidados Intensivos. Materiales y métodos: Estudio cualitativo, descriptivo de corte transversal, no probabilístico, a criterio. La población accesible fueron profesionales de la Salud de las Unidades de Cuidados Intensivos, y el análisis de las respuestas de una encuesta estructurada, enviada a distintos profesionales a nivel mundial. Resultados: Se incluyeron los cuestionarios de 41 profesionales, el 34% de los profesionales reportaron la utilización regular de Asistente Mecánico de la Tos; 22% refirieron la utilización regular de apilamiento de aire; 31% reportaron la utilización regular de Asistencia Ventilatoria No Invasiva, 56.1% de los profesionales afirmaron conocer la diferencia entre Ventilación No Invasiva y Soporte Ventilatorio No Invasivo, 34% de los profesionales refirieron tener formación especializada en el área. Conclusión: Pese a existir una alta proporción de profesionales con conocimiento especializado, un grupo importante no los aplica rutinariamente. La justificación es principalmente por la dificultad de adquisición y financiación de los equipos necesarios.

Introduction: In neuromuscular diseases, the decrease in vital capacity relates to decreased coughing and then ventilatory capacity, the combination of both generating serious complications due to ventilatory failure. In intubated patients, the extubation process is difficult unless specialized respiratory care is provided. The knowledge and treatment application of the professionals who care for these patients in intensive care is of outmost importance. Objectives: Report the knowledge and specialized application of respiratory care in neuromuscular diseases in Intensive Care Units. Materials and methods: Qualitative, descriptive, cross-sectional, non-probabilistic study, at criteria. The accessible population were Health professionals from the Intensive Care Units, and the analysis of the responses of a structured survey, sent to different professionals worldwide. Results: The questionnaires of 41 professionals were included, 34% of the professionals reported the regular use of the Mechanical Cough Assistant; 22% reported the regular use of air stacking; 31% reported the regular use of Non-Invasive Ventilatory Assistance. 56.1% of the professionals stated that they knew the difference between Non-Invasive Ventilation and Non-Invasive Ventilatory Support, 34% of the professionals reported having specialized training in the area. Conclusion: Despite the existence of a high proportion of professionals with specialized knowledge, an important group does not routinely apply them. The justification is mainly due to the difficulty of acquiring and financing the necessary equipment.

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BACKGROUND: The economic burden of rare diseases on health systems is still not widely measured, with the generation of accurate information about the costs with medical care for subjects with rare diseases being crucial when defining health policies. Duchenne Muscular Dystrophy (DMD) is the most common form of muscular dystrophy, with new technologies recently being studied for its management. Information about the costs related to the disease in Latin America is scarce, and the objective of this study is to evaluate the annual hospital, home care and transportation costs per patient with DMD treatment in Brazil. RESULTS: Data from 27 patients were included, the median annual cost per patient was R$ 17,121 (IQR R$ 6,786; 25,621). Home care expenditures accounted for 92% of the total costs, followed by hospital costs (6%) and transportation costs (2%). Medications and loss of family, and patient's productivity are among the most representative consumption items. When disease worsening due to loss of the ability to walk was incorporated to the analysis, it was shown that wheelchair users account for an incremental cost of 23% compared with non-wheelchair users. CONCLUSIONS: This is an original study in Latin America to measure DMD costs using the micro-costing technique. Generating accurate information about costs is crucial to provide health managers with information that could help establish more sustainable policies when deciding upon rare diseases in emerging countries.

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Objectives: The COVID-19 pandemic has affected the entire population, especially the population with chronic diseases. This study aimed to describe the quality of life of children and adults with neuromuscular diseases and their caregivers during the COVID-19 pandemic. Methods: A observational correlational study was conducted. Forty-seven participants, including adults with NMD and caregivers of children with NMD, took part in the study. The WHOQOL-BREF and PedsQL 4.0 GCS and FIM scales were used. Results: The PedsQL indicated a mean of 55.85 (SD = 22.05) for children, and a mean of 55.76 (SD = 16.72) for caregivers. Adults reported a mean of 67 (SD = 22.5) for their general perception of quality of life, and a M = 53 (SD = 28.25) for their perception on health. Conclusions: The results showed regular to low quality of life of all children, adults, and caregivers, mainly in the physical dimension for people with neuromuscular diseases, and in the concerns dimension for caregivers. These results warn about the physical and psychological vulnerability situation in which this population finds itself.

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Abstract Objective: To analyze the underlying components of reduced maximal static inspiratory (MIP) and expiratory (MEP) pressures in subjects with Duchenne muscular dystrophy. Methods: Forty-three subjects were assessed based on routine pulmonary function tests. MIP and MEP were measured the subjects performed maximal expirations and inspirations using a snorkel mouthpiece. Lung volumes were measured us ing the helium dilution technique. Results: The mean age was 13 years (range, 7-20 years). Median total lung capacity (TLC) and residual volume (RV) were 78.0 (49.0-94.0) and 27.0 (19.7-30.1) of the predicted values re spectively. The RV/TLC relationship was 35.3% (28.1-47.7). Thirty-five subjects had a TLC below the lower limit of normal, while 31 had an RV/TLC ratio above the upper limit of normal. The median (IQR) MIP and MEP values were -53.0 (-65.5 to -41.8) and 58.0 (41.5-74.8) cmH2O respectively. MIP and MEP in percent of the predicted values (predicted TLC and RV) were 42.6 (33.3-50.8) and 33.7 (23.9-44.5). MIP in percent of the RV reached for Group A (7-11 years old) was higher (p 0.025) while MEP in percent of the TLC reached for Group B (12-16 years) and C (17-20 years) were higher too (0.031). Conclusions: In subjects with Duchenne muscular dystrophy, the intrinsic weakness of respiratory muscles and mechanical disadvantage lead to inadequate maximal static pressure generation. Maximal static pressures should be interpreted cautiously as they overestimate respiratory muscle weakness when compared to predicted values obtained at TLC and RV. Our results provide additional data supporting absolute values use rather than predicted values.

Resumen Objetivo: Analizar los componentes subyacentes de las presiones inspiratorias (MIP) y espiratorias (MEP) es táticas máximas reducidas en sujetos con distrofia de Duchenne (DMD). Métodos: Se evaluaron 43 pacientes mediante pruebas de función pulmonar rutinarias. MIP y MEP fueron medidas a inspiración y espiración máximas. Los volúmenes pulmonares se midieron mediante dilución de helio. Resultados: Edad media 13 años (rango 7-20 años). La capacidad pulmonar total (TLC) y el volumen residual (RV) fueron 78.0% (49.0-94.0) y 27.0% (19.7- 30.1) de los valores predichos. El RV/TLC fue de 35.3% (28.1-47.7). Treinta y cinco sujetos tenían una TLC por debajo del límite inferior de normalidad, 31 tenían una RV/TLC por encima del límite superior de la normalidad. MIP y MEP fueron -53.0 (-65.5 a -41.8) y 58.0 (41.5-74.8) cmH2O, mientras que en % de los predichos (TLC y RV predichos) fueron 42.6 (33.3-50.8) y 33.7 (23.9-44.5). MIP en % del RV alcanzado (Grupo A 7-11 años) fue mayor (p 0.025), y MEP en % de la TLC alcanzada Grupo B (12-16 años) y C (17-20 años), también fue mayor (0.031). Conclusiones: En sujetos con DMD, debilidad intrínseca de los músculos respiratorios y desventaja mecánica conducen a generación de presión estática máxima inadecuada. Las mismas deben interpretarse con cautela, ya que sobrestiman la debilidad de los músculos respiratorios si se las compara con las tablas de valores predichos obtenidos a TLC y RV. Nuestros resultados proporcionan datos adicionales que respaldan la utilización de valores absolutos en lugar de los predichos.

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Introducción. Con las nuevas terapias, el diagnóstico temprano de la atrofia muscular espinal (AME) es esencial. El objetivo de este estudio es analizar los distintos componentes que influyen en el retraso diagnóstico. Población y métodos. Se incluyeron pacientes con un diagnóstico molecular de AME tipo I, II y III. Se estudiaron varios parámetros, como la edad al momento de la aparición del primer signo, qué signo fue y el intervalo entre este y el diagnóstico confirmado. Neurólogos especialistas realizaron entrevistas que se complementaron con la revisión de historias clínicas cuando fue necesario. Resultados. Se entrevistaron 112 pacientes. AME I n = 40, AME II n = 48, AME III n = 24. La mediana de edad en meses al momento del reporte del primer signo fue AME I: 1,5 (R 0-7), AME II: 9 (R 2-20), AME III: 18 (R 8-180). Los primeros signos fueron reconocidos por los padres en el 75 % al 85 % de las veces en todos los subtipos. La mediana del tiempo transcurrido entre el primer signo y la primera consulta médica fue menor a un mes en los tres tipos. La mediana de tiempo transcurrido en meses entre el primer signo y el diagnóstico molecular confirmado fue en AME I: 2 (R 0-11), en AME II: 10 (3-46) y en AME III: 31,5 (R 4-288). Conclusiones. Existe un significativo retraso en el diagnóstico de la AME relacionado fundamentalmente a la falta de sospecha clínica. La demora es menor en AME I y mayor en AME III. Otros factores incluyen deficiencias en el sistema de salud.

Introduction. News treatments, make early diagnosis of spinal muscular atrophy (SMA) critical. The objective of this study is to analyze the different factors that influence delay in diagnosis. Population and methods. Patients with a molecular diagnosis of types I, II, and III SMA were included. Several parameters were studied, such as age at onset of first sign, what sign it was, and the time from recognition of first sign to confirmed diagnosis. Neurologists specialized in SMA conducted interviews, supported by the review of medical records when deemed necessary. Results. A total of 112 patients were interviewed. SMA I n = 40, SMA II n = 48, SMA III n = 24. The median age in months at the time of reporting the first sign was SMA I: 1.5 (R: 0­7), SMA II: 9 (R: 2­20), SMA III: 18 (R: 8­180). In all subtypes, first signs were identified by parents from 75% to 85% of the times. The median time from first sign to first medical consultation was less than a month in all 3 types. The median time in months, from first sign to confirmed molecular diagnosis in SMA I was: 2 (R: 0­11), in SMA II: 10 (R: 3­46), in SMA III: 31.5 (R: 4­288). Conclusions. There is a significant delay in SMA diagnosis mainly related to the absence of clinical suspicion. The delay is shorter in SMA I and longer in SMA III. Other factors include deficiencies in the health care system.

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Introducción: la disfagia es un trastorno de la deglución, el cual es habitualmente desatendido por profesionales de la salud, en especial la disfagia orofaríngea neurogénica, que es capaz de producir varios síntomas, signos y complicaciones secundarias en los pacientes. Objetivo: realizar una caracterización clínica incluyendo percepción de síntomas de disfagia en pacientes con disfagia orofaríngea neurogénica de causas neurológicas y neuromusculares en Antioquia, Colombia entre los años 2019 y 2021. Metodología: estudio transversal realizado en 80 pacientes con disfagia orofaríngea neurogénica confirmada a través de la herramienta Eating Assessment Tool-10, evaluación clínica y/o resultados de video fluoroscopia de la deglución. Resultados: 71 pacientes presentaron causas neurológicas centrales. La enfermedad cerebrovascular y la enfermedad de Parkinson fueron las etiologías más frecuentes. Solo 18% de los pacientes con causas neurológicas y 33% con causas neuromusculares reportaron tolerancia a todas las consistencias de alimentos. Mediana de 16 puntos en cuanto a autopercepción de síntomas de disfagia mediante el instrumento Eating Assessment Tool-10, con puntuaciones más altas en pacientes con presencia de gastrostomía, antecedente de neumonía, odinofagia y alteración en la oclusión mandibular al examen físico. En los pacientes con causas neurológicas hubo mayor presencia de signos motores linguales y apraxias orofaciales. Conclusión: existen características clínicas como sensación de comida pegada, dificultad para tragar alimentos sólidos, tos y ahogo al tragar, que son útiles en el reconocimiento de casos de disfagia orofaríngea, y apoyan que esta genera más síntomas que signos al examen físico en pacientes con condiciones neurológicas y neuromusculares.

Introduction: dysphagia is a swallowing disorder that is usually neglected by health professionals, especially neurogenic oropharyngeal dysphagia, which can produce various symptoms, signs and secondary complications in patients. Objective: to perform a clinical characterization, including perception of dysphagia symptoms, in patients with neurogenic oropharyngeal dysphagia of neurological and neuromuscular causes in Antioquia, Colombia between 2019 and 2021. Methodology: cross-sectional study conducted in 80 patients with neurogenic oropharyngeal dysphagia confirmed through the Eating Assessment Tool-10, clinical assessment and/ or video fluoroscopy results of swallowing. Results: 71 patients presented central neurological causes. Cerebrovascular disease and Parkinson's disease were the most frequent etiologies. Only 18% of patients with neurological causes and 33% with neuromuscular causes reported tolerance to all food consistencies. Median of 16 points in terms of self-perception of dysphagia symptoms using the Eating Assessment Tool-10, with higher scores in patients with gastrostomy, a history of pneumonia, odynophagia, and abnormal mandibular occlusion on physical examination. In patients with neurological causes, there was a greater presence of lingual motor signs and orofacial apraxia. Conclusion: there are clinical characteristics such as a sensation of stuck food, difficulty swallowing solid foods, coughing, and choking when swallowing, which are useful in recognizing cases of oropharyngeal dysphagia, and support that this generates more symptoms than signs on physical examination in patients with neurological and neuromuscular conditions.

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OBJECTIVE: To analyze the underlying components of reduced maximal static inspiratory (MIP) and expiratory (MEP) pressures in subjects with Duchenne muscular dystrophy. METHODS: Forty-three subjects were assessed based on routine pulmonary function tests. MIP and MEP were measured the subjects performed maximal expirations and inspirations using a snorkel mouthpiece. Lung volumes were measured using the helium dilution technique. RESULTS: The mean age was 13 years (range, 7-20 years). Median total lung capacity (TLC) and residual volume (RV) were 78.0 (49.0-94.0) and 27.0 (19.7-30.1) of the predicted values respectively. The RV/TLC relationship was 35.3% (28.1-47.7). Thirty-five subjects had a TLC below the lower limit of normal, while 31 had an RV/TLC ratio above the upper limit of normal. The median (IQR) MIP and MEP values were -53.0 (-65.5 to -41.8) and 58.0 (41.5-74.8) cmH2O respectively. MIP and MEP in percent of the predicted values (predicted TLC and RV) were 42.6 (33.3-50.8) and 33.7 (23.9-44.5). MIP in percent of the RV reached for Group A (7-11 years old) was higher (p 0.025) while MEP in percent of the TLC reached for Group B (12-16 years) and C (17-20 years) were higher too (0.031). CONCLUSIONS: In subjects with Duchenne muscular dystrophy, the intrinsic weakness of respiratory muscles and mechanical disadvantage lead to inadequate maximal static pressure generation. Maximal static pressures should be interpreted cautiously as they overestimate respiratory muscle weakness when compared to predicted values obtained at TLC and RV. Our results provide additional data supporting absolute values use rather than predicted values.

OBJETIVO: Analizar los componentes subyacentes de las presiones inspiratorias (MIP) y espiratorias (MEP) estáticas máximas reducidas en sujetos con distrofia de Duchenne (DMD). Métodos: Se evaluaron 43 pacientes mediante pruebas de función pulmonar rutinarias. MIP y MEP fueron medidas a inspiración y espiración máximas. Los volúmenes pulmonares se midieron mediante dilución de helio. RESULTADOS: Edad media 13 años (rango 7-20 años). La capacidad pulmonar total (TLC) y el volumen residual (RV) fueron 78.0% (49.0-94.0) y 27.0% (19.7- 30.1) de los valores predichos. El RV/TLC fue de 35.3% (28.1-47.7). Treinta y cinco sujetos tenían una TLC por debajo del límite inferior de normalidad, 31 tenían una RV/TLC por encima del límite superior de la normalidad. MIP y MEP fueron -53.0 (-65.5 a -41.8) y 58.0 (41.5-74.8) cmH2O, mientras que en % de los predichos (TLC y RV predichos) fueron 42.6 (33.3-50.8) y 33.7 (23.9-44.5). MIP en % del RV alcanzado (Grupo A 7-11 años) fue mayor (p 0.025), y MEP en % de la TLC alcanzada Grupo B (12-16 años) y C (17-20 años), también fue mayor (0.031). CONCLUSIONES: En sujetos con DMD, debilidad intrínseca de los músculos respiratorios y desventaja mecánica conducen a generación de presión estática máxima inadecuada. Las mismas deben interpretarse con cautela, ya que sobrestiman la debilidad de los músculos respiratorios si se las compara con las tablas de valores predichos obtenidos a TLC y RV. Nuestros resultados proporcionan datos adicionales que respaldan la utilización de valores absolutos en lugar de los predichos.

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Introduction. News treatments, make early diagnosis of spinal muscular atrophy (SMA) critical. The objective of this study is to analyze the different factors that influence delay in diagnosis. Population and methods. Patients with a molecular diagnosis of types I, II, and III SMA were included. Several parameters were studied, such as age at onset of first sign, what sign it was, and the time from recognition of first sign to confirmed diagnosis. Neurologists specialized in SMA conducted interviews, supported by the review of medical records when deemed necessary. Results. A total of 112 patients were interviewed. SMA I n = 40, SMA II n = 48, SMA III n = 24. The median age in months at the time of reporting the first sign was SMA I: 1.5 (R: 0-7), SMA II: 9 (R: 2-20), SMA III: 18 (R: 8-180). In all subtypes, first signs were identified by parents from 75% to 85% of the times. The median time from first sign to first medical consultation was less than a month in all 3 types. The median time in months, from first sign to confirmed molecular diagnosis in SMA I was: 2 (R: 0-11), in SMA II: 10 (R: 3-46), in SMA III: 31.5 (R: 4-288). Conclusions. There is a significant delay in SMA diagnosis mainly related to the absence of clinical suspicion. The delay is shorter in SMA I and longer in SMA III. Other factors include deficiencies in the health care system.

Introducción. Con las nuevas terapias, el diagnóstico temprano de la atrofia muscular espinal (AME) es esencial. El objetivo de este estudio es analizar los distintos componentes que influyen en el retraso diagnóstico. Población y métodos. Se incluyeron pacientes con un diagnóstico molecular de AME tipo I, II y III. Se estudiaron varios parámetros, como la edad al momento de la aparición del primer signo, qué signo fue y el intervalo entre este y el diagnóstico confirmado. Neurólogos especialistas realizaron entrevistas que se complementaron con la revisión de historias clínicas cuando fue necesario. Resultados. Se entrevistaron 112 pacientes. AME I n = 40, AME II n = 48, AME III n = 24. La mediana de edad en meses al momento del reporte del primer signo fue AME I: 1,5 (R 0-7), AME II: 9 (R 2-20), AME III: 18 (R 8-180). Los primeros signos fueron reconocidos por los padres en el 75 % al 85 % de las veces en todos los subtipos. La mediana del tiempo transcurrido entre el primer signo y la primera consulta médica fue menor a un mes en los tres tipos. La mediana de tiempo transcurrido en meses entre el primer signo y el diagnóstico molecular confirmado fue en AME I: 2 (R 0-11), en AME II: 10 (346) y en AME III: 31,5 (R 4-288). Conclusiones. Existe un significativo retraso en el diagnóstico de la AME relacionado fundamentalmente a la falta de sospecha clínica. La demora es menor en AME I y mayor en AME III. Otros factores incluyen deficiencias en el sistema de salud.

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The global use of noninvasive respiratory support provided by different supportive ventilation delivery methods (SVDMs) has increased, but the impact of these devices on the upper airway structures of patients with amyotrophic lateral sclerosis (ALS) is not known. We aimed to compare the pharyngeal cross-sectional area during spontaneous breathing with four different SVDMs: intranasal masks, oronasal masks, high-flow nasal cannula (HFNC), and helmet in patients with ALS. We compared measures of the pharyngeal area during spontaneous breathing and SVDM use. The greatest increase was observed with intranasal mask use, followed by HFNC, oronasal mask, and helmet respectively. In conclusion, upper airway opening in patients with ALS is enhanced by positive pressure with intranasal masks and HFNC, showing promise for increasing pharyngeal patency. Future studies should explore its applicability and effectiveness in maintaining long-term pharyngeal patency, especially in this population with bulbar weakness.

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Charcot-Marie-Tooth's disease (CMT) represents the most common inherited neuropathy. Most patients are diagnosed during late stages of disease course during adulthood. We performed a review of clinical, neurophysiological, and genetic diagnoses of 32 patients with genetically defined childhood-onset demyelinating CMT under clinical follow-up in a Brazilian Center for Neuromuscular Diseases from January 2015 to December 2019. The current mean age was 33.1 ± 18.3 years (ranging from 7 to 71 years) and mean age at defined genetic diagnosis was 36.1 ± 18.3 years. The mean age at onset was 6.1 ± 4.4 years. The most common initial complaint was bilateral pes cavus. The genetic basis included PMP22 duplication (CMT1A) ( n = 18), GJB1 (CMTX1) ( n = 5), MPZ (CMT1B) ( n = 3), FIG4 (CMT4J) ( n = 3), SH3TC2 (CMT4C) ( n = 1), PLEKHG5 (CMTRIC) ( n = 1), and PRX (CMT4F) ( n = 1). Almost all patients ( n = 31) presented with moderate or severe compromise in the CMT neuropathy score 2 with the highest values observed in CMT1B. Medical history disclosed obstructive sleep apnea ( n = 5), aseptic meningitis ( n = 1/ MPZ ), akinetic-rigid parkinsonism ( n = 1/ FIG4 ), and overlapping chronic inflammatory demyelinating polyneuropathy ( n = 1/ MPZ ). Motor conduction block was detected in three individuals ( PMP22 , FIG4 , MPZ ). Acute denervation occurred in seven patients. Nonuniform demyelinating patterns were seen in four individuals (two CMT1A, one CMT1B, and one CMTX1). Abnormal cerebral white matter findings were detected in CMT1A and CMTX1, while hypertrophic roots were seen in CMT1A, CMT1B, and CMTX1. Our study emphasizes a relative oligogenic basis in childhood-onset demyelinating CMT and atypical findings may be observed especially in MPZ , PMP22 , and GJB1 gene variants.

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Introduction: The COVID-19 pandemic has brought short, medium, and long-term consequences on the quality of life of those affected. Among the complications are those related to the involvement of the nervous system and the structures involved in body movement, with sequelae that may be transitory and/or definitive, and require rehabilitation. Objective: Identify the neuromuscular alterations that affect body movement, associated with COVID-19. Material and methods: A search was made for observational works published in the SCOPUS, PubMed, EBSCO, and Nature databases between January 2020 and June 2022 under the PRISMA methodology, to answer the PICO question: what are the neuromuscular alterations that can potentially affect movement, associated with COVID-19? The established filters were type of study, language, age, availability, publication dates. The MeSH terms were SARS-Cov-2, COVID-19, Long Covid, Motor Activity Neuromuscular Diseases, Neurological Disorders, Guillain-Barré Syndrome, Myelitis Transverse, Stroke, Patient, Peripheral Nervous System Diseases. The methodological quality was evaluated according to STROBE and the level of evidence was established according to CEBM. Results: In the first search, 645 articles were identified. 637 were discarded by filters, titles, duplicate abstracts, methodological quality, and level of evidence. There were 8 articles selected for the present review in which neuromuscular alterations of central and peripheral origin were identified, such as myalgias, fatigue, polyneuroradiculopathies, CNS inflammation, among others, with clinical manifestations that affect movement. Conclusion: COVID-19 is a multisystemic disease that can affect the nervous system with symptoms of neuromuscular alterations that compromise body movement.

Introducción: La pandemia por la COVID-19 ha traído consecuencias a corto, mediano y largo plazo sobre la calidad de vida de los afectados. Entre las complicaciones se encuentran aquellas relacionadas con la afectación del sistema nervioso y las estructuras involucradas en el movimiento corporal, con secuelas que pueden ser transitorias y/o definitivas, y requieren rehabilitación Objetivo: Identificar las alteraciones neuromusculares que afectan el movimiento corporal, asociadas a la COVID-19. Material y métodos: Se hizo una búsqueda de trabajos observacionales publicados en las bases de datos SCOPUS, PubMed, EBSCO y Nature entre enero de 2020 y junio de 2022 bajo metodología PRISMA, para dar respuesta a la pregunta PICO: ¿cuáles son las alteraciones neuromusculares que potencialmente pueden afectar el movimiento, asociadas a la COVID-19? Los filtros establecidos fueron tipo de estudio, idioma, edad, disponibilidad y fechas de publicación. Los términos MesH fueron SARS-Cov-2, COVID-19, Long Covid, Motor Activity Neuromuscular Diseases, Neurological Disorders, Guillain-Barré Syndrome, Myelitis Transverse, Stroke, Patient, Peripheral Nervous System Diseases. La calidad metodológica se evaluó según STROBE y el nivel de evidencia se estableció según CEBM. Resultados: En la primera búsqueda se identificaron 645 artículos. Posteriormente se descartaron 637 por filtros, títulos, resúmenes duplicados, calidad metodológica y nivel de evidencia. Así, quedaron seleccionados 8 para la presente revisión, en los cuales se identificaron alteraciones neuromusculares de origen central y periférico, como mialgias, fatiga, polineuroradiculopatías, inflamación del SNC, entre otras, con manifestaciones clínicas que afectan el movimiento. Conclusión: La COVID-19 es una enfermedad multisistémica que puede afectar el sistema nervioso con síntomas de alteraciones neuromusculares que comprometen el movimiento corporal.

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ABSTRACT Introduction Specific training with vibration can show short- and long-term effects on neuromuscular capacity. This training method gives muscles a frequent stimulus amplitude variation and can promote muscle strength, explosive power, neuromuscular coordination, and balance training. Objective This paper compares the effects of strength training with vibration on the strength of small muscle groups in the lower limbs of athletes. Methods 24 young people were randomly assigned to a low- and high-frequency group. Both groups used traditional strength training with the addition of 30 and 40Hz vibrational training. Training with load intensity between 30 and 70% of maximal strength lasting 60 minutes was repeated in 3 weekly sessions for eight weeks. Functional tests were recorded before and after the experiment, and their results were statistically analyzed. Results The peak torque of the hip muscles of the two groups of athletes increased significantly after training (P<0.05). In the high-frequency athletes, the peak in the hip extensor increased by 15.3% and the flexor by 18.2%; in the low-frequency group, there was an increase of 10.3%, representing a very significant difference (P<0.01). Conclusion Additional vibration stimulation for resistance strength training can effectively improve strength training. With a relatively small load, this training method can effectively improve maximal muscular strength, explosive power, and muscular endurance. Evidence level II; Therapeutic Studies - Investigating the results.

RESUMO Introdução O treino específico com vibração pode mostrar efeitos a curto e longo prazo sobre a capacidade neuromuscular. Esse método de treino dá aos músculos uma variação de amplitude de estímulo frequente, podendo promover força muscular, poder explosivo, coordenação neuromuscular, e treino do equilíbrio. Objetivo Este artigo analisa a comparação dos efeitos do treino de fortalecimento com adição de vibração sobre a força dos pequenos grupos musculares nos membros inferiores dos esportistas. Métodos 24 jovens foram aleatoriamente distribuídos em grupo de baixa e alta frequência. Ambos grupos utilizaram treinamento de força tradicional com adição de treino vibracional de 30 e 40Hz. Treinos com intensidade de carga entre 30 e 70% de força máxima com duração de 60 minutos foram repetidos em 3 sessões semanais durante 8 semanas. Testes funcionais foram registrados antes e depois do experimento e seus resultados foram analisados estatisticamente. Resultados O pico de torque dos músculos do quadril dos dois grupos de atletas aumentou significativamente após o treinamento (P<0,05). Nos atletas de alta frequência, o pico no extensor do quadril aumentou 15,3% e o flexor 18,2%; no grupo de baixa frequência houve aumento de 10,3% representando uma diferença muito significativa (P<0,01). Conclusão A estimulação adicional da vibração para o treinamento de força com resistência pode efetivamente melhorar o treinamento de força. Esse método de treinamento pode efetivamente melhorar a força muscular máxima, o poder explosivo e a resistência muscular com uma carga relativamente pequena. Nível de evidência II; Estudos terapêuticos - Investigação de resultados.

RESUMEN Introducción El entrenamiento específico con vibración puede mostrar efectos a corto y largo plazo sobre la capacidad neuromuscular. Este método de entrenamiento proporciona a los músculos una variación frecuente de la amplitud del estímulo, y puede promover la fuerza muscular, la potencia explosiva, la coordinación neuromuscular y el entrenamiento del equilibrio. Objetivo Este trabajo analiza la comparación de los efectos del entrenamiento de fuerza con la adición de vibración en la fuerza de los pequeños grupos musculares de los miembros inferiores de los deportistas. Métodos 24 jóvenes fueron asignados aleatoriamente al grupo de baja y alta frecuencia. Ambos grupos utilizaron el entrenamiento de fuerza tradicional con la adición del entrenamiento vibratorio de 30 y 40 Hz. Los entrenamientos con una intensidad de carga entre el 30 y el 70% de la fuerza máxima y con una duración de 60 minutos se repitieron en 3 sesiones semanales durante 8 semanas. Se registraron las pruebas funcionales antes y después del experimento y se analizaron estadísticamente sus resultados. Resultados El par máximo de los músculos de la cadera de ambos grupos de atletas aumentó significativamente después del entrenamiento (P<0,05). En los atletas de alta frecuencia, el pico del extensor de la cadera aumentó un 15,3% y el flexor un 18,2%; en el grupo de baja frecuencia hubo un aumento del 10,3%, lo que representa una diferencia muy significativa (P<0,01). Conclusión La estimulación vibratoria adicional para el entrenamiento de fuerza con resistencia puede mejorar eficazmente el entrenamiento de fuerza. Este método de entrenamiento puede mejorar eficazmente la fuerza muscular máxima, la potencia explosiva y la resistencia muscular con una carga relativamente pequeña. Nivel de evidencia II; Estudios terapéuticos - Investigación de resultados.

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Objetivo: Realizar o acompanhamento de crianças e adolescentes com Atrofia Muscular Espinhal (AME) e Distrofia Muscular de Duchenne (DMD) em um centro de referência, por meio de avaliações de parâmetros respiratórios e motores. Métodos: Conduziu-se 3 avaliações em um período de 24 meses, em pacientes até 15 anos, com DMD e AME. Avaliações respiratórias incluíram: parâmetros cardiorrespiratórios, força muscular respiratória, pico de fluxo de tosse e espirometria. Analisou-se a função motora por meio de escalas especificas: 1) Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) para crianças até 2 anos; 2) Medida da Função Motora (MFM-32) acima de 6 anos; 3) versão reduzida (MFM-20) para 2 a 6 anos. A análise estatística incluiu o teste de Shapiro-Wilk e utilizou-se ANOVA com Post Hoc de Bonferroni ou Friedman, e aplicou-se os coeficientes de Spearman ou Pearson. Resultados: Participaram 16 pacientes com mediana de idade de 6,5 anos, 12 com AME e 4 DMD. Houve diferença entre dados antropométricos, a frequência de crianças que não realizava fisioterapia reduziu (12,5%X6,3%) e houve aumento na adesão para técnica de empilhamento de ar (37,5%X43,8%). Uso de ventilação não invasiva se manteve igual, assim como parâmetros respiratórios e escalas motoras. Verificou-se forte correlação entre valor predito da capacidade vital forçada e escores MFM-20 e MFM-32. Conclusão: O acompanhamento ambulatorial de crianças com AME e DMD evidenciou relativa manutenção em parâmetros respiratórios e de função motora, o que pode ser atribuído a melhora na adesão de rotinas terapêuticas e aos cuidados em um centro de referência.

Objective: The aim of this study was to monitor children and adolescents with Spinal Muscular Atrophy(SMA) and Duchenne Muscular Dystrophy (DMD) at a referral center, through assessments of respiratory and motor parameters. Methods: 3 evaluations were conducted over a period of 24 months, in patients up to 15 years old, with DMD and SMA. Respiratory assessments included: cardiorespiratory parameters, respiratory muscle strength, peak cough flow and spirometry. Motor function was analyzed using specific scales: 1) Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) for children up to 2 years old; 2) Measurement of Motor Function (MFM-32) over 6 years; 3) reduced version (MFM-20) for 2 to 6 years. The statistical analysis included the Shapiro-Wilk test and ANOVA with Bonferroni or Friedman's Post Hoc was used, and the Spearman or Pearson coefficients were applied. Results: 16 patients with a median age of 6.5 years, 12 with SMA and 4 DMD participated. There was a difference between anthropometric data, the frequency of children who did not undergo physical therapy decreased (12.5%X6.3%) and there was an increase in adherence to the air stacking technique (37.5%X43.8%). Use of non-invasive ventilation remained the same, as did respiratory parameters and motor scales. There was a strong correlation between the predicted value of forced vital capacity and scores MFM-20 and MFM-32. Conclusion: Outpatient follow-up of children with SMA and DMD showed a relative maintenance of respiratory and motor function parameters, which can be attributed to the improvement in adherence to therapeutic routines and care in a reference center.