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OBJECTIVE: To characterize symptom frequency and symptom-directed treatment approaches in patients who died with advanced Duchenne muscular dystrophy (DMD). STUDY DESIGN: This was a retrospective cohort study of patients in a multidisciplinary DMD program who died between January 1, 2013, and June 30, 2021. Inclusion criteria were patients who died with advanced DMD in the time period studied; exclusion criteria were low exposure to palliative care (<2 encounters). Demographic, symptom, and end-of-life data, as well as medications used for symptom management, were abstracted from the electronic medical record. RESULTS: In total, 15 patients were eligible for analysis. The median age of death was 23 years (range 15-30 years). One (6.7%) experienced a full code at death, 8 (53.3%) had do-not-resuscitate orders, and 4 (26.7%) had limited do-not-resuscitate orders. Mean palliative care exposure was 1280 days. All 15 (100%) had pain and dyspnea; 14 (93.3%) anorexia, constipation, and sleep difficulty; 13 (86.7%) wounds; and 12 (80%) anxiety and nausea/vomiting. Multiple medications and drug classes were used to target symptoms. CONCLUSIONS: We found significant polysymptomatology and polypharmacy in patients who died with advanced DMD. Clinicians who care for patients with advanced DMD should clarify goals of care and document advance care planning. Given the complexity of multisystem disease progression, palliative care should provide subspecialty pain management and assist with psychosocial burdens.

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INTRODUCTION/AIMS: Considering the heterogeneity of the clinical manifestations of Duchenne muscular dystrophy (DMD), it is important to describe their various clinical profiles. Thus, in this study we aimed to develop percentile curves for DMD using a battery of measures to define the patterns of functional abilities, timed tests, muscle strength, and range of motion (ROM). METHODS: This retrospective data analysis was based on the records of patients with DMD using the Motor Function Measure (MFM) scale, isometric muscle strength (IS), dorsiflexion ROM, 10-meter walk test (10 MWT), and 6-minute walk test (6 MWT). Percentile curves (25th, 50th, and 75th percentiles) with MFM, IS, ROM, 10 MWT, and 6 MWT on the y axis and patient age on the x axis were constructed using the generalized additive model for location, scale, and shape, with Box-Cox power exponential distribution. RESULTS: There were records of 329 assessments of patients between 4 and 18 years of age. The MFM percentiles showed a gradual reduction in all dimensions. Muscle strength and ROM percentiles showed that the knee extensors were the most affected from 4 years of age, and dorsiflexion ROM negative values were noted from the age of 8 years. The 10 MWT showed a gradual increase in performance time with age. For the 6 MWT, the distance curve remained stable until 8 years, with a subsequent progressive decline. DISCUSSION: In this study we generated percentile curves that can help health professionals and caregivers follow the trajectory of disease progression in DMD patients.

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In the last few decades, there have been considerable improvements in the diagnosis and care of Duchenne muscular dystrophy (DMD), the most common childhood muscular dystrophy. International guidelines have been published and recently reviewed. A group of Brazilian experts has developed a standard of care based on a literature review with evidence-based graded recommendations in a two-part publication. Implementing best practice management has helped change the natural history of this chronic progressive disorder, in which the life expectancy for children of the male sex in the past used to be very limited. Since the previous publication, diagnosis, steroid treatment, rehabilitation, and systemic care have gained more significant insights with new original work in certain fields. Furthermore, the development of new drugs is ongoing, and some interventions have been approved for use in certain countries. Therefore, we have identified the need to review the previous care recommendations for Brazilian patients with DMD. Our objective was to create an evidence-based document that is an update on our previous consensus on those topics.

Nas últimas décadas, houve progressos significativos no diagnóstico e no tratamento da distrofia muscular de Duchenne (DMD), considerada a distrofia muscular mais comum na infância. Diretrizes internacionais foram publicadas e revisadas recentemente. Um grupo de especialistas brasileiros desenvolveu um padrão de atendimento baseado em revisão de literatura, com recomendações graduadas pautadas em evidências compiladas em uma publicação dividida em duas partes. A implementação de melhores práticas de manejo ajudou a modificar a história natural desta doença crônica, progressiva, que, no passado, oferecia uma expectativa de vida muito limitada para crianças do sexo masculino. Desde a publicação desse consenso anterior, o diagnóstico, o tratamento com esteroides, a reabilitação e os cuidados sistêmicos ganharam novas possibilidades a partir da divulgação dos resultados de trabalhos originais em algumas dessas áreas. Além disso, as pesquisas e o desenvolvimento de novos fármacos estão em andamento, e algumas intervenções já foram aprovadas para uso em determinados países. Nesse contexto, identificamos a necessidade de rever as recomendações anteriores sobre o manejo dos pacientes brasileiros com DMD. Nosso objetivo principal foi elaborar uma atualização baseada em evidências sobre esses tópicos do consenso.

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BACKGROUND: The MLPA (multiplex ligation dependent probe amplification) technique is currently the test most widely used to detect mutations in the Duchenne/Becker muscular dystrophy (DMD) gene in the initial assessment. However, several studies have suggested that MLPA results require implementing other detection methods due to false duplication. Our aim was to evaluate variables that could alter the peak ratio in MLPA in individuals with Duchenne/Becker muscular dystrophy (DMD/BMD) who present sequence variants at the probe hybridization site, such as the location of sequence variants (SVs), melting temperature of the probe, and the type of variant. METHODS: We analyzed patients with clinical suspicion of DMD/BMD through the MLPA technique. The DMD gene was sequenced in patients with normal results in MLPA. RESULTS: Of 111 patients, 72 had an abnormal MLPA result, of which 10 had a single exon abnormal peak, and 39 had a normal peak ratio. Out of 10 patients, 4 (40%) with a single exon abnormal peak ratio had SV at the hybridization site of the probe. In the other 6, the deletion was confirmed. Out of 39 patients with a normal peak ratio, 11 presented SVs at the hybridization site of the probe, and DMD/BMD was confirmed. CONCLUSIONS: In cases of abnormal peak ratio results of MLPA in a single exon, it would be valuable to sequence the DMD gene to assess whether variants in the probe hybridization site might result in a false positive that could be interpreted as an exon deletion.

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Neuromuscular diseases represent a rare cause of dilated myocardiopathy, among them Duchenne muscular dystrophy is the most common. Transthoracic echocardiography and cardiac magnetic resonance imaging can assess cardiac involvement early. The case of a patient diagnosed with Duchenne muscular dystrophy who develops cardiac involvement during cardiology follow-up is presented below.

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AIM: To identify the standardized assessment scales for people with muscular dystrophy and investigate the quality/level of evidence of their measurement properties. METHOD: A systematic review of patient-reported outcome measures was conducted on the MEDLINE, Embase, AMED, DiTA, and PsycINFO databases in August 2020. We included psychometric studies that investigated the validity, reliability, and responsiveness of instruments assessing activity and participation for muscular dystrophy of any type (Duchenne, Becker, limb-girdle, facioscapulohumeral, congenital, and myotonic) or age. Two independent reviewers selected the studies, extracted data, and evaluated the instruments' quality and level of evidence following the COnsensus-based Standards for the selection of health status Measurement INstruments (COSMIN) checklist. The study followed the Preferred Reporting Items for Systematic reviews and Meta-Analysis (PRISMA) 2020 guidelines. RESULTS: The searches identified 6675 references; a total of 46 studies with 28 condition-specific or general instruments were included. The measurement properties of most instruments had sufficient (68.8%) or indeterminate (25.7%) results according to COSMIN. The quality of evidence of the measurement properties was moderate (23.8%) or low (22.6%) according to the Grading of Recommendations Assessment, Development, and Evaluation (GRADE). INTERPRETATION: There is a lack of high-quality instruments whose psychometric properties are adequately measured. The highest quality instrument is the Muscular Dystrophy Functional Rating Scale. The Motor Function Measure (general instrument), Duchenne Muscular Dystrophy Upper-limb Patient-reported Outcome Measure, North Star Ambulatory Assessment, and Myotonic Dystrophy Type 1 Activity and Participation Scale for Clinical Use (specific) are also recommended. WHAT THIS PAPER ADDS: There are 28 available instruments for activity and participation of people with muscular dystrophy. The evidence quality is moderate or low because of imprecision and indirectness. The Muscular Dystrophy Functional Rating Scale is the highest quality instrument. The Motor Function Measure is the second most recommended instrument. The Duchenne Muscular Dystrophy Upper-limb Patient-reported Outcome Measure, North Star Ambulatory Assessment, and Myotonic Dystrophy Type 1 Activity and Participation Scale for Clinical Use are also recommended.

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BACKGROUND: The commonly used dynamometers can be ineffective in evaluating handgrip in patients with Duchenne muscular dystrophy (DMD), especially children with generalized muscle weakness. The aim of this study was to analyze whether the modified sphygmomanometer is an effective instrument for handgrip strength evaluation in patients with DMD, during different stages of the disease. METHOD: The handgrip strength of 33 patients was evaluated by the Jamar dynamometer and the modified sphygmomanometer. Motor function was evaluated by the Motor Function Measurement (MFM) scale. Four evaluations, with a six-month interval between each, were performed: Evaluation 1 (N = 33), Evaluation 2 (N = 24), Evaluation 3 (N = 15), and Evaluation 4 (N = 8). A linear regression model with mixed effects was used for the longitudinal data and descriptive analysis of strength for all four evaluations. RESULT: The first evaluation data presented very high correlations between the dynamometer and the modified sphygmomanometer (r = 0.977; p < 0.001). The longitudinal analysis showed a significant difference between Evaluation 1 and the other handgrip strength evaluations obtained using the dynamometer (p < 0.05) but not the modified sphygmomanometer (p > 0.05). Null values were obtained only when using the dynamometer device. CONCLUSION: The modified sphygmomanometer seems to be more suitable than the dynamometer for measuring handgrip strength in all stages of DMD.

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INTRODUCTION: Since December 2019, the scientific community has been mobilized to contain the COVID-19 pandemic. Although individuals with Duchenne Muscular Dystrophy (DMD) have restrictive lung disease, risk of immunosuppression and associated cardiomyopathy, they are not considered to be a risk group for COVID-19. DMD is a neuromuscular, genetic and progressive disease, with early childhood development. In order to manage the disease, multidisciplinary follow-up is necessary to improve this patient's quality of life. OBJECTIVE: Identify the impact of the pandemic on the care of patients with DMD and its repercussions. METHOD: This is a cross-sectional, quantitative and descriptive study. The sample consisted of patients diagnosed with DMD aged between 4 and 18 years, followed up at the neuropediatrics service. Data collection was carried out by an interview with those responsible for the patient and evaluation of the medical records, using a questionnaire. Statistical analysis was descriptive using central tendency and dispersion measures. RESULTS: Among the 44 patients included, the median age was 12 years and the predominant type of gene mutation was deletion (56.8%). The median age of first symptoms was 4 years. Thirteen patients had contact with family members positive for COVID-19 and tested positive for the disease. Eleven received the vaccine against COVID-19. Medical followups suffered a great reduction in the pandemic period, as well as respiratory and motor physiotherapy. CONCLUSION: The pandemic interfered with multidisciplinary care for patients with DMD. As a chronic and degenerative disease, individuals with DMD require ongoing care, which was interrupted by the pandemic scenario.

INTRODUÇÃO: Desde dezembro de 2019, a comunidade científica está mobilizada para a contenção da pandemia pela COVID-19. Embora indivíduos portadores de Distrofia Muscular de Duchenne (DMD) apresentem doença pulmonar restritiva, risco de imunossupressão e cardiomiopatia associada, não são grupo de risco para a COVID-19. DMD é doença neuromuscular, genética e progressiva, de início na infância. Para manejo da doença, faz-se necessário acompanhamento multidisciplinar para melhora da qualidade de vida. OBJETIVO: Identificar o impacto da pandemia nos cuidados aos pacientes com DMD e suas repercussões. MÉTODOS: Trata-se de um estudo transversal, quantitativo e descritivo. A amostra foi composta por pacientes com diagnóstico de DMD com idade entre 4 e 18 anos acompanhados no serviço de neuropediatria. A coleta de dados foi realizada por entrevista com responsáveis e avaliação do prontuário, a partir de um questionário. A análise estatística foi descritiva com uso de medida de tendência central e dispersão. RESULTADOS: Dentre os 44 pacientes incluídos, a mediana de idade foi de 12 anos e o tipo de mutação gênica predominante a deleção (56,8%). A mediana de idade dos primeiros sintomas foi de 4 anos. Treze pacientes tiveram contato com familiares positivos para COVID-19 e testaram positivo para a doença. Onze receberam a vacina contra COVID-19. Os acompanhamentos médicos sofreram grande redução no período pandêmico, bem como a fisioterapia respiratória e motora. CONCLUSÃO: A pandemia interferiu nos atendimentos multidisciplinares aos pacientes com DMD. Como uma doença crônica e degenerativa, os indivíduos com DMD necessitam de cuidados contínuos, o que foi interrompido pelo cenário pandêmico.

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Se presenta el caso clínico de un adolescente de 18 años de edad, atendido en el Policlínico Docente Armando García Aspurú de Santiago de Cuba por presentar antecedentes de retardo en el desarrollo psicomotor, marcha anadeante, caídas frecuentes, signo de Gowers positivo, fuerza muscular proximal disminuida en miembros superiores e inferiores, pseudohipertrofia de los gemelos, atrofia de cuádriceps pectoral y escapular. Los signos y síntomas clínicos permitieron diagnosticar una distrofia muscular de Duchenne. Como no pudo realizarse el tratamiento rehabilitador necesario, se produjo un deterioro músculo - esquelético progresivo y severo del paciente.

The case report of an 18 years adolescent is presented. He was assisted at Armando García Aspurú Teaching Polyclinic in Santiago de Cuba due to a history of psychomotor development retardation, wandering march, frequent falls, positive Gowers sign, diminished proximal muscular force in upper and lower limbs, twins pseudohypertrophy, atrophy of pectoralis and scapular quadriceps. The clinical signs and symptoms allowed to diagnose a Duchenne muscular dystrophy. As the necessary rehabilitative treatment could not be carried out, a progressive and severe musculoskeletal deterioration of the patient took place.

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OBJECTIVE: To verify the interval of responsiveness to the scales Segmental Assessment of Trunk Control (SATCo-BR), Performance of Upper Limbs (PUL), and Jebsen Taylor Test (JTT) in patients with Duchenne Muscular Dystrophy (DMD). METHODS: We assessed patients with DMD aged 6 to 19 years old and with mini-mental (MMSE) score above 10 points. The assessments were performed individually, in a single session. The upper limb function was performed by PUL and JTT, and trunk control by SATCo-BR. Assessments were repeated six and 12 months after the initial assessment. The repeated-measures analysis of variance model and Bonferroni's multiple comparison method were employed as post hoc analysis; when the ANOVA assumptions were not met, the Friedman test was applied. RESULTS: The sample consisted of 28 patients evaluated in three moments (initial, and six and 12 months after the beginning). There was a time effect for the Upper Limb function performance in the total JTT, and for the subtests, except for subtests 1 and 6, which did not show a difference between the different moments. There was also a time effect for the score of total PUL, proximal PUL, intermediate PUL, and distal PUL. In the SATCo-BR, this effect was observed between the initial and 6 months, and between the initial and 12 months. CONCLUSIONS: The JTT, PUL, and SATCo-BR scales can detect changes over time, and they showed responsiveness to detect the evolution of the disease in the 6-month interval.

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