Distrofia muscular de Duchenne, una causa infrecuente de miocardiopatía dilatada / Duchenne muscular dystrophy, a rare cause of dilated cardiomyopathy

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.

Responsiveness of upper limb scales and trunk control for the evolution of patients with duchenne muscular dystrophy / Responsividade de escalas de membro superior e controle de tronco na evolução de pacientes com distrofia muscular de duchenne

ABSTRACT 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.

RESUMO Objetivo: Verificar o intervalo de tempo para a responsividade das escalas Segmental Assessment of Trunk Control (SATCo-BR), Performance of Upper Limb (PUL) e o Teste de Função Manual de Jebsen Taylor (TJT) em pacientes com distrofia muscular de Duchenne (DMD). Métodos: Foram avaliados pacientes com DMD nas idades entre 6 e 19 anos, e com escore do Mini Exame do Estado Mental (MEEM) a partir de 10 pontos. As avaliações foram realizadas individualmente, em uma única sessão: a função de membro superior (MS) ocorreu pela PUL e TJT; e da do controle de tronco, pela SATCo-BR. As avaliações foram repetidas após seis e 12 meses da avaliação inicial. Foi empregado o modelo de análise de variância com medidas repetidas e o método de comparações múltiplas de Bonferroni, como análise post hoc; quando os pressupostos da ANOVA não foram atendidos, foi aplicado o teste de Friedman. Resultados: A amostra foi composta por 28 pacientes avaliados em três momentos (inicial, após seis meses e após 12 meses). Houve efeito do tempo no desempenho da função Membro Superior no TJT total e nos subtestes, exceto nos subtestes 1 e 6, que não apresentaram diferença nas avaliações entre os diferentes momentos. Houve efeito do tempo para o escore da PUL total, PUL proximal, PUL intermediário e PUL distal. No SATCo-BR, esse efeito foi entre o inicial e após seis meses, e entre o inicial e após 12 meses. Conclusões: As escalas TJT, PUL e SATCo-BR são capazes de detectar alterações ao longo do tempo, e apresentam responsividade para detectar a evolução da doença em intervalo de 6 meses.

Fisioterapia aquática em indivíduos com distrofia muscular: uma revisão sistemática do tipo escopo / Fisioterapia acuática en individuos con distrofia muscular: una revisión sistemática de alcance / Aquatic physical therapy in individuals with muscular dystrophy: systematic scoping review

RESUMO O objetivo deste estudo foi mapear o uso da fisioterapia aquática em indivíduos com distrofias musculares, de forma a caracterizar as intervenções no meio aquático e identificar componentes mensurados (variáveis estudadas e instrumentos utilizados nos estudos). A revisão sistemática do tipo de escopo incluiu estudos experimentais, descritivos e observacionais (em inglês, português e espanhol). As buscas foram realizadas nas plataformas Medline (PubMed), CINAHL, Embase, PEDro, Lilacs, ERIC, Scopus, Web of Science e Google Scholar. Os dados extraídos foram alocados em três categorias: (1) caracterização dos registros, (2) informações referentes a fisioterapia aquática e (3) componentes mensurados. Foram encontrados 556 registros e, destes, selecionados 20. As amostras dos estudos selecionados incluíram, na maioria, indivíduos com distrofia muscular de Duchenne, com idade entre 5 e 22 anos, que fizeram fisioterapia aquática com duração média de 45 minutos uma ou duas vezes por semana, por 21 semanas. Essas características corroboram estudos feitos em diferentes populações. A maioria dos estudos investigou alterações pulmonares e controle postural/desempenho funcional, poucos avaliaram os efeitos no sistema cardíaco. Recomenda-se usar a Egen Klassifikation, a North Star Ambulatory Assessment e fazer o teste de caminhada de seis minutos.

RESUMEN El presente estudio tuvo el objetivo de mapear la práctica de fisioterapia acuática por individuos con distrofias musculares, para caracterizar las intervenciones en el medio acuático e identificar los componentes medidos (variables estudiadas e instrumentos utilizados en los estudios). La revisión sistemática de alcance incluyó estudios experimentales, descriptivos y observacionales (en inglés, portugués y español). Se llevaron a cabo las búsquedas en Medline (PubMed), CINAHL, Embase, PEDro, Lilacs, ERIC, Scopus, Web of Science y Google Scholar. Los datos obtenidos se asignaron en tres categorías: (1) caracterización de registros; (2) informaciones sobre fisioterapia acuática; y (3) componentes medidos. Se encontraron 556 registros, de los cuales se seleccionaron 20. Las muestras de los estudios seleccionados incluyeron mayoritariamente a individuos con distrofia muscular de Duchenne, con edades entre 5 y 22 años, y que se habían sometido a sesiones de fisioterapia acuática con un promedio de duración de 45 minutos, una o dos veces por semana, durante 21 semanas. Estas características confirman estudios realizados con diferentes poblaciones. La mayoría de los estudios han investigado las alteraciones pulmonares y el control postural/rendimiento funcional, pero pocos han evaluado los efectos sobre el sistema cardíaco. Se recomienda emplear la Egen Klassifikation, la North Star Ambulatory Assessment y aplicar la prueba de caminata de seis minutos.

ABSTRACT The aim of this study is to map the use of aquatic physical therapy in individuals with muscular dystrophy, to characterize aquatic physical therapy intervention and identify measured components (variables and measurement instruments used) by the studies. A systematic scoping review included experimental, descriptive and observational studies (in English, Portuguese and Spanish languages). The searches were carried out on MEDLINE (PubMed), CINAHL, Embase, PEDro, Lilacs, ERIC, Scopus, Web of Science, Google Scholar. The extracted data were characterized into three categories: (1) characterization of the records, (2) information referring to aquatic physical therapy, and (3) measured components. There were 556 studies records and 20 records were selected. The studies samples included mostly individuals with Duchenne muscular dystrophy, aged between 5 and 22 years old. Aquatic physical therapy sessions lasted about 45 minutes, and one or two sessions per week were carried out for 21 weeks. That corroborates studies conducted in different populations. Most of the studies investigated pulmonary system and postural control/ functional ability, and a few studies evaluated cardiac system. Egen Klassifikation and North Star Ambulatory Assessment are recommended, and also to perform 6-minute walk test.

The association of hand grip strength with functional measures in non-ambulatory children with Duchenne muscular dystrophy / Associação da força de preensão manual com medidas funcionais em crianças com distrofia muscular de Duchenne, que não deambulam

ABSTRACT Duchenne muscular dystrophy (DMD) is a disease characterized by progressive loss of muscle fiber, gradually from proximal to distal. Although a few studies have investigated hand grip strength in non-ambulatory DMD patients, a lack of literature was found determining its relationship with functional capacity. Objective: The aim of this study was to determine the associations between hand grip strength and functional measures in non-ambulatory children with DMD. Methods: Hand grip strength was evaluated using a dynamometer in children with DMD. The children with DMD were evaluated with the Turkish version of the Egen Klassifikation Scale Version 2 (EK2) for global functional capacity, the Performance of Upper Limb (PUL) for upper limb functional performance and the ABILHAND-Kids for hand ability. Results: The mean age of 38 DMD children was 12.02 ± 1.99 years. Dominant hand grip strength of the children with DMD was higher than the non-dominant hand (p < 0.05). The EK2 was 13.02 ± 5.50, PUL was 49.86 ± 14.34 and ABILHAND-Kids was 26.81 ± 7.59. Hand grip strength was found to be correlated with the EK2 (p < 0.05). Conclusions: It is known that measuring functional ability and strength in very weak children with DMD has been difficult and complex for therapists/clinicians in the clinical environment. Although there is a moderate correlation, hand grip strength may be used in clinical practice as a practical assessment tool to have an immediate insight into the global functional capacity in non-ambulatory DMD children.

RESUMO A distrofia muscular de Duchenne (DMD) é uma doença caracterizada por perda progressiva da fibra muscular, gradualmente de proximal a distal. Embora poucos estudos tenham investigado a força de preensão manual em pacientes com DMD não ambulatoriais, foi observada uma falta de literatura para determinar suas relações com a capacidade funcional. Objetivo: O objetivo deste estudo foi determinar as associações entre força de preensão manual e medidas funcionais em crianças não ambulatoriais com DMD. Métodos: A força de preensão manual foi avaliada com dinamômetro em crianças com DMD. As crianças com DMD foram avaliadas com a versão turca da Egen Klassifikation Scale Versão 2 (EK2) para capacidade funcional global, desempenho do membro superior (PUL) para desempenho funcional do membro superior e ABILHAND-Kids para a habilidade manual. Resultados: A idade média de trinta e oito crianças com DMD foi de 12,02 ± 1,99. A força de preensão manual dominante das crianças com DMD foi maior que a da mão não dominante (p < 0,05). A EK2 foi calculada em 13,02 ± 5,50, PUL em 49,86 ± 14,34 e ABILHAND-Kids em 26,81 ± 7,59. A força de preensão manual foi correlacionada com a EK2 (p < 0,05). Conclusões: Sabe-se que medir a capacidade funcional e força em crianças muito fracas com DMD tem sido difícil e complexo para terapeutas / clínicos em ambiente clínico. Embora exista uma correlação moderada, a força de preensão manual pode ser usada na prática clínica como uma ferramenta de avaliação prática para obter imediatamente uma percepção da capacidade funcional global em crianças com DMD não ambulatoriais.

Función pulmonar en pacientes con distrofia muscular de Duchenne / Lung function in patients with Duchenne muscular dystrophy

Duchenne Muscular Dystrophy (DMD) is a neuromuscular disease characterized by progressive respiratory impairment, so early assessment of lung function is important to prevent complications, establish the advance of the disease and decide which therapeutic interventions should be made. In this review, the following pulmonary function tests are mentioned: spirometry, lung volumes, maximum mouth pressure, peak cough flow, maximum voluntary ventilation and impulse oscillometry.

La Distrofia Muscular de Duchenne (DMD) es una enfermedad neuromuscular (ENM) con compromiso respiratorio progresivo, por lo que la evaluación precoz de la función pulmonar es importante tanto para prevenir complicaciones, definir la progresión de la enfermedad y decidir la implementación de intervenciones terapéuticas. En esta revisión se mencionan las siguientes pruebas de función de pulmonar: espirometría, volúmenes pulmonares, presiones máximas en boca, peak flow de tos, ventilación voluntaria máxima y oscilometría de impulso.

Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy / Reação atípica à anestesia em distrofia muscular de Duchenne/Becker

Abstract Background and objectives Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents. The aim of this report is to describe the investigation and diagnosis of a patient with Becker muscular dystrophy and review the care required in anesthesia. Case report Male patient, 14 years old, referred for hyperCKemia (chronic increase of serum creatine kinase levels - CK), with CK values of 7,779-29,040 IU.L-1 (normal 174 IU.L-1). He presented with a discrete delay in motor milestones acquisition (sitting at 9 months, walking at 18 months). He had a history of liver transplantation. In the neurological examination, the patient showed difficulty in walking on one's heels, myopathic sign (hands supported on the thighs to stand), high arched palate, calf hypertrophy, winged scapulae, global muscle hypotonia and arreflexia. Spirometry showed mild restrictive respiratory insufficiency (forced vital capacity: 77% of predicted). The in vitro muscle contracture test in response to halothane and caffeine was normal. Muscular dystrophy analysis by Western blot showed reduced dystrophin (20% of normal) for both antibodies (C and N-terminal), allowing the diagnosis of Becker muscular dystrophy. Conclusion On preanesthetic assessment, the history of delayed motor development, as well as clinical and/or laboratory signs of myopathy, should encourage neurological evaluation, aiming at diagnosing subclinical myopathies and planning the necessary care to prevent anesthetic complications. Duchenne/Becker muscular dystrophy, although it does not increase susceptibility to MH, may lead to atypical fatal reactions in anesthesia.

Resumo Justificativa/objetivos Distrofia muscular de Duchenne/Becker afeta a musculatura esquelética e leva a fraqueza muscular progressiva e risco de reações atípicas anestésicas após exposição à succinilcolina ou halogenados. O objetivo do presente relato é descrever investigação e diagnóstico de paciente com distrofia muscular de Becker e revisar os cuidados necessários na anestesia. Relato de caso Paciente masculino, 14 anos, encaminhado por hiperCKemia (aumento crônico dos níveis séricos de creatinoquinase - CK), com valores de CK de 7.779-29.040 UI.L-1 (normal 174 UI.L-1). Apresentou discreto atraso da aquisição de marcos motores (sentou aos nove meses, andou aos 18). Antecedente de transplante hepático. No exame neurológico apresentava dificuldade para andar nos calcanhares, levantar miopático (apoiava mãos nas coxas para ficar de pé), palato arqueado alto, hipertrofia de panturrilhas, escápulas aladas, hipotonia muscular global e arreflexia. Havia insuficiência respiratória restritiva leve na espirometria (capacidade vital forçada: 77% do previsto). O teste de contratura muscular in vitro em resposta ao halotano e à cafeína foi normal. Estudo da distrofina muscular por técnica de Western blot mostrou redução da distrofina (20% do normal) para ambos os anticorpos (C e N-terminal), e permitiu o diagnóstico de distrofia muscular de Becker. Conclusão Na avaliação pré-anestésica, história de atraso do desenvolvimento motor, bem como sinais clínicos e/ou laboratoriais de miopatia, deve motivar avaliação neurológica, com o objetivo de diagnosticar miopatias subclínicas e planejar cuidados necessários para prevenir complicações anestésicas. Distrofia muscular de Duchenne/Becker, apesar de não conferir suscetibilidade aumentada à HM, pode levar a reações atípicas fatais na anestesia.

Behavior of Blood Pressure Variables in Children and Adolescents with Duchenne Muscular Dystrophy / Comportamento de Variáveis Pressóricas em Crianças e Adolescentes com Distrofia Muscular de Duchenne

Abstract Background: Duchenne muscular dystrophy is an X-chromosome-linked genetic disorder (locus Xp21). Involvement of the cardiovascular system is characterized by fibrous degeneration/replacement of myocytes with consequent ventricular hypertrophy and arterial hypertension. Objective: To assess, by using 24-hour ambulatory blood pressure monitoring, the behavior of blood pressure variables in children and adolescents with a confirmed diagnosis of Duchenne muscular dystrophy. Methods: Prospective observational cohort study, which selected 46 patients followed up on an outpatient basis, divided according to age groups. Blood pressure was classified according to the age percentile. The monitoring interpretation includes systolic and diastolic blood pressure means, systolic and diastolic blood pressure loads, and nocturnal dipping. The blood pressure means were calculated for the 24-hour, wakefulness and sleep periods. Nocturnal dipping was defined as a drop in blood pressure means during sleep greater than 10%. The significance level adopted was p < 0.05. Results: Nocturnal dipping for systolic blood pressure was present in 29.9% of the participants. Approximately 53% of them had attenuated nocturnal dipping, and 15%, reverse nocturnal dipping. The age groups of 9-11 years and 6-8 years had the greatest percentage of attenuation, 19.1% and 14.9%, respectively. Regarding diastolic blood pressure, nocturnal dipping was identified in 53.2% of the children, being extreme in 27.7% of those in the age group of 6-11 years. Conclusions: The early diagnosis of blood pressure changes can allow the appropriate and specific therapy, aimed at increasing the life expectancy of patients with Duchenne muscular dystrophy.

Resumo Fundamento: A distrofia muscular de Duchenne é alteração genética determinada por alteração no braço curto do cromossomo X (locus Xp21). O envolvimento do sistema cardiovascular caracteriza-se por degeneração/substituição fibrótica dos miócitos com consequente hipertrofia ventricular e hipertensão arterial. Objetivo: Avaliar o comportamento de variáveis pressóricas em crianças e adolescentes com diagnóstico confirmado, pela monitorização ambulatorial da pressão arterial por 24 horas. Métodos: Estudo coorte prospectivo e observacional, com seleção de 46 pacientes em acompanhamento ambulatorial, agrupados por faixa etária. A classificação da pressão arterial deu-se conforme o percentil de idade. Na interpretação da monitorização, foram incluídas as médias de pressão arterial sistólica, pressão arterial diastólica, as cargas pressóricas sistólicas e diastólicas e o descenso do sono. As médias pressóricas foram calculadas para o período de 24 horas, vigília e sono. O descenso noturno foi definido como a queda maior que 10% para as médias durante o sono. O nível de significância adotado foi de p < 0,05. Resultados: O descenso noturno para a pressão sistólica esteve presente em 29,9%. Aproximadamente 53% dos participantes apresentaram descenso atenuado e 15%, descenso invertido. As faixas etárias 9 a 11 anos e 6 a 8 anos concentraram o maior percentual de atenuação do descenso, 19,1% e 14,9%, respectivamente. Para a pressão diastólica, o descenso esteve presente em 53,2%, e encontramos 27,7% com descenso acentuado na faixa etária de 6 a 11 anos. Conclusões: Considerando nossos achados, o diagnóstico precoce das anormalidades pressóricas pode ser ferramenta valiosa para a identificação e instalação de terapêutica apropriada visando aumento da sobrevida desses pacientes.

How often should sitting and rising from a chair be evaluated in patients with Duchenne muscular dystrophy? / Com que frequência deve ser avaliada a atividade de sentar e levantar da cadeira em pacientes com distrofia muscular de Duchenne?

ABSTRACT Objective To determine how often sitting/rising from a chair should be assessed in Duchenne muscular dystrophy (DMD) patients to avoid redundant/missing data. Methods Sitting/rising from a chair was evaluated in 26 DMD children (5-12 yrs), in three-month intervals, over twelve months, with the Functional Evaluation Scale (domain sitting/rising from a chair). Scores were compared by effect sizes (ES) and standardized response means (SRM) (responsiveness analysis). Results Sit-to-stand showed low-to-moderate responsiveness in three-month intervals (ES:0.23-0.32; SRM:0.36-0.68), moderate-to-high responsiveness in six-month intervals (ES:0.52-0.65; SRM:0.76-1.28), high responsiveness at nine-month (ES:0.84-0.91; SRM:1.26-1.64) and twelve-month intervals (ES:1.27; SRM:1.48). Stand-to-sit showed low responsiveness in three-month intervals (ES:0.26-0.49; SRM:0.37-0.42), moderate responsiveness in six-month intervals (ES:0.50-0.78; SRM:0.56-0.71), high responsiveness in nine-month (ES:0.94-1.00; SRM:0.84-1.02) and twelve-month intervals (ES:1.13; SRM:1.52). Conclusion Six months or longer intervals for reassessment are indicated to evaluate sitting/standing from a chair in DMD patients.

RESUMO Objetivo Determinar a frequência de avaliação do sentar e levantar da cadeira em pacientes com distrofia muscular de Duchenne (DMD), para evitar informações faltantes ou redundantes. Métodos Sentar/ Levantar foram avaliados em 26 crianças com DMD (5-12 anos), em intervalos de três meses, durante doze meses, com a Escala de Avaliação Funcional (domínio sentar/ levantar da cadeira). Os tamanhos do efeito (TE) e as médias de resposta padronizada (MRP) foram usados na análise de responsividade. Resultados Levantar da cadeira teve responsividade baixa a moderada em três meses (TE: 0,23-0,32; MRP: 0,36-0,68), moderada a alta em seis meses (TE: 0,52-0,65; MRP: 0,76-1,28), alta em nove e (TE: 0,84-0,91; MRP: 1,26-1,64) doze meses (TE: 1,27; MRP: 1,48). Sentar na cadeira teve responsividade baixa em três meses (TE: 0,26-0,49; MRP: 0,37-0,42), moderada em seis meses (TE: 0,50-0,78; MRP: 0,56-0,71), alta em nove (TE: 0,94-1,00; MRP: 0,84-1,02) e doze meses (TE: 1,13; MRP: 1,52). Conclusão Os pacientes com DMD devem ser reavaliados com intervalos mínimos de seis meses entre avaliações de sentar/ levantar da cadeira.

Cambios en la función motora en pacientes con distrofia muscular de Duchenne: estudio descriptivo / Progression of motor function disorders in patients with Duchenne muscular dystrophy: a descriptive study

Introduction: duchenne muscular dystrophy (DMD) is a neuromuscular disease inherited in an X-linked recessive pattern, characterized by progressive muscle weakness, affecting axial muscles in the first place, and then the rest of the body’s muscles. In our country there is no record of the progressive behavior of the disease in children with DMD. Objective: to describe the progression of motor function disorders per age group in DMD patients. Method: Descriptive, cross-sectional study with 26 patients diagnosed with DMD, classified in 4 groups according to the evolution of the disease, using Motor Function Measure (MFM), Brooke and Vignos scales in Instituto teletón in Santiago between April and october 2013. Results: Median values and interquartile range (IQR) according to total MFM percentages by group were: Group 1 (3-5 years): 88.3 (5.8); Group 2 (6-9 years): 76.0 (20.8); Group 3 (10-14 years): 36.4 (8.3), and Group 4 (≥ 15 years): 31.2 (15.1). According to Vignos scale, G1 reached level 2; G2 reached level 3 and G3 and G4, level 9. According to Brooke scale, G1 and G2 reached level 1 and G3 and G4, level 5. Conclusion: MFM allowed an objective assessment of motor function progression in DMD per age group; dimension 1 shows the progression of the disease at an early stage and dimension 3 is better preserved in later stages of the disease. these results could facilitate a multi and inter-disciplinary approach.

Introducción: la distrofia muscular de Duchenne (DMD) es una enfermedad neuromuscular de carácter hereditario recesivo ligado al cromosoma X, caracterizada por debilidad muscular progresiva, afectando inicialmente a los músculos de cintura pélvica y escapular para luego abarcar todo el cuerpo. En nuestro país no se cuenta con un registro del comportamiento progresivo de la enfermedad en niños con DMD. Objetivo: Describir los cambios en la función motora según grupo etario en pacientes con DMD. Metodología: Estudio descriptivo, transversal, en 26 pacientes, con diagnóstico confirmado de DMD, clasificados en 4 grupos según fase de evolución de la enfermedad, a quienes se aplicó las escalas Medición Evaluación Motora (MFM), Vignos y Brooke en el Instituto teletón Santiago entre abril y octubre de 2013. Resultados: Las medianas y rangos intercuartílicos, según porcentajes totales de MFM, por cada grupo fueron: Grupo 1 (3-5 años): 88,3 (5,8); Grupo 2 (6-9 años): 76,0 (20,8); Grupo 3 (10-14 años): 36,4 (8,3) y Grupo 4 (15 años y más): 31,2 (15,1). Según Escala de Vignos, G1 se situó en nivel 2; G2 en nivel 3 y G3 y G4 en nivel 9. En escala de Brooke, G1 y G2 se situaron en nivel 1 y G3 y G4 en nivel 5. Conclusión: La MFM permitió una evaluación objetiva de los cambios en la función motora de pacientes con DMD según grupos etarios; la Dimensión 1 informa tempranamente la progresión y la Dimensión 3 se preserva mejor en estadios tardíos de la enfermedad, resultados que direccionan el abordaje multi e interdisciplinario.

Escala de evaluación funcional de extremidades superiores en niños con distrofia muscular de Duchenne y Atrofia músculo espinal / Upper limb functional assessment scale for children with Duchenne muscular dystrophy and Spinal muscular atrophy

La distrofia muscular de Duchenne (DMD) y la Atrofia músculo espinal (AME) determinan discapacidad y compromiso funcional progresivo. Se requiere de instrumentos fácilmente disponibles, que evalúen la funcionalidad, especialmente en etapas avanzadas de la enfermedad, para monitorizar evolución e impacto de intervenciones terapéuticas. Objetivo: Reportar el desarrollo de escala para evaluar la función de las extremidades superiores (EESS) en pacientes con DMD y AME, y describir su proceso de validación que incluye autoentrenamiento para evaluadores. Pacientes y Método: El desarrollo de la escala incluyó revisión de escalas publicadas, aplicación exploratoria de escala inicial en niños sanos y con DMD, autoentrenamiento de evaluadores en aplicación de escala definitiva utilizando manual y vídeo tutorial y aplicación de escala en grupo de niños con DMD y AME. Se evaluó confiabilidad con coeficiente de Cronbach y de Kendall y concordancia con test-retest intra e inter-evaluadores, y validez con análisis de concordancia y factorial. Resultados: Se observó alto grado de confiabilidad, con alta consistencia interna (a de Cronbach = 0,97) y concordancia interevaluadores (W de Kendall = 0,96) e intraevaluadores (r = 0,97 a 0,99). La validez se demostró por la inexistencia de diferencias significativas entre resultados de distintos evaluadores con evaluador experto (F = 0,023, p > 0,5) y análisis factorial, que mostró que 4 factores explican el 85,44% de varianza total. Conclusiones: Esta escala de evaluación es un instrumento confiable y válido para evaluar la funcionalidad de EESS en niños con DMD y AME. Además, es de fácil implementación por la posibilidad de autoentrenamiento y el uso de materiales simples y de bajo costo.

Duchenne muscular dystrophy (DMD) and Spinal muscular atrophy (SMA) causes significant disability and progressive functional impairment. Readily available instruments that assess functionality, especially in advanced stages of the disease, are required to monitor the progress of the disease and the impact of therapeutic interventions. Objective: To describe the development of a scale to evaluate upper limb function (UL) in patients with DMD and SMA, and describe its validation process, which includes self-training for evaluators. Patients and Method: The development of the scale included a review of published scales, an exploratory application of a pilot scale in healthy children and those with DMD, self-training of evaluators in applying the scale using a handbook and video tutorial, and assessment of a group of children with DMD and SMA using the final scale. Reliability was assessed using Cronbach and Kendall concordance and with intra and inter-rater test-retest, and validity with concordance and factorial analysis. Results: A high level of reliability was observed, with high internal consistency (Cronbach a = 0.97), and inter-rater (Kendall W = 0.96) and intra-rater concordance (r = 0.97 to 0.99). The validity was demonstrated by the absence of significant differences between results by different evaluators with an expert evaluator (F = 0.023, p > .5), and by the factor analysis that showed that four factors account for 85.44% of total variance. Conclusions: This scale is a reliable and valid tool for assessing UL functionality in children with DMD and SMA. It is also easily implementable due to the possibility of self-training and the use of simple and inexpensive materials.

Patients with Duchenne and Becker muscular dystrophies are not more asymmetrical than healthy controls on timed performance of upper limb tasks

This study aimed to investigate possible asymmetries and relationships between performance of dominant and non-dominant upper limbs (UL) in patients with Duchenne and Becker muscular dystrophies (DMD/BMD), to compare UL performance of patients and healthy subjects and to investigate the relationship between timed performance of UL and age, motor function and muscle strength in DMD/BMD patients. Sixteen patients with DMD and 3 with BMD were evaluated with Jebsen-Taylor Test (timed performance), Vignos scale and Dimension 3 of Motor Function Measure (motor function), and Medical Research Council scale (muscle strength) on a single session. ANOVA showed no asymmetry between dominant and non-dominant UL, except in the writing subtest, in patients and in healthy controls. There were relationships between dominant and non-dominant UL performances. Correlations between timed performance, motor function and muscle strength were found, but age was not correlated with these variables. These findings may reduce the assessment time, prevent fatigue and provide more accurate clinical reasoning involving UL in DMD/BMD treatment.

The relevance of trunk evaluation in Duchenne muscular dystrophy: the segmental assessment of trunk control / A relevância da avaliação do controle de tronco na distrofia muscular de Duchenne: a Segmental Assessment of Trunk Control

ABSTRACT The aim was to describe trunk control in ambulant and non-ambulant patients with Duchenne muscular dystrophy (DMD). We conducted a cross-sectional analysis of a sample of 50 DMD patients, (M age = 16.7 years) who underwent the Segmental Assessment of Trunk Control (SATCo). A seven-level scale of trunk control was used (1: head control only; 7: control of entire trunk while unsupported). Static, active and reactive posture control were evaluated in ambulant and non-ambulant patients. Inter-rater reliability for all assessments was evaluated by calculating the kappa coefficient. More advanced disease (having higher Vignos scores), was associated with poorer trunk control. Ambulant patients showed better trunk control than non-ambulant patients (p = 0.003). There was strong inter-rater agreement for SATCo scale scores.

RESUMO O objetivo foi avaliar o controle de tronco em pacientes deambulantes e não-deambulantes com distrofia muscular de Duchenne (DMD). Estudo transversal composto por 50 pacientes com diagnóstico de DMD, média de idade 16,72 anos, avaliados pela Segmental Assessment of Trunk Control (SATCo). A escala apresenta sete níveis para o controle de tronco incluindo-se desde o controle de cabeça até controle de tronco total em que o paciente permanece sem apoio. Controle estático, ativa e reativa de postura do tronco foram avaliados em pacientes deambulantes e não-deambulantes. Para a confiabilidade entre os avaliadores, empregou-se a análise estatística Kappa. Quanto maior a pontuação na escala Vignos, maior a frequência de pacientes com DMD que apresentam pior controle de tronco. Pacientes deambulantes apresentaram controle de tronco melhor do que os pacientes não-deambulantes (p = 0,003). Houve forte confiabilidade entre avaliadores para a pontuação da escala SATCo.

Responsiveness of the domain climbing up and going down stairs of the Functional Evaluation scale for Duchenne Muscular Dystrophy: a one-year follow-up

ABSTRACT Objective: To determine the responsiveness of the domain climbing up and going down stairs of the Functional Evaluation Scale for Duchenne Muscular Dystrophy (FES-DMD-D3) in a one-year follow-up study. Method: The study included 26 patients with DMD. Effect Size (ES) and Standardized Response Mean (SRM) described the scale’s responsiveness. Results: For climbing up stairs, ES showed that responsiveness was low in the three-month assessments (0.26; 0.35; 0.13; 0.17), low to moderate in the six-month assessments (0.58; 0.48; 0.33), moderate in the nine-month assessments (0.70; 0.68), and high in the 12-month assessment (0.88). SRM showed that responsiveness was low in the three-month assessments (0.29; 0.38; 0.18; and 0.19), low to moderate in the six-month assessments (0.59; 0.51; 0.36), moderate in the nine-month assessments (0.74 and 0.70), and high in the 12-month assessment (0.89). For going down stairs, ES showed that responsiveness was low in the three- and six-month assessments (0.16; 0.25; 0.09; 0.08 and 0.48; 0.35; 0.18, respectively), low to moderate in the nine-month assessments (0.59; 0.44), and moderate in the 12-month assessment (0.71). SRM showed that responsiveness was low in the three- and six-month assessments (0.25; 0.35; 0.12; 0.09 and 0.47; 0.38; 0.21, respectively), low to moderate in the nine-month assessment (0.62; 0.49), and moderate in the 12-month assessment (0.74). Conclusion: Climbing up stairs should be assessed at intervals of nine months or longer, when responsiveness is moderate to high. Going down stairs should be assessed annually because moderate responsiveness was observed in this period.

Pain characterization in Duchenne muscular dystrophy / Caracterização da dor na distrofia muscular de Duchenne

ABSTRACT Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder, characterized by progressive muscle weakness. Historically, pain has not been considered to be a major symptom in DMD. Objective To investigate the relationship between DMD and pain. Methods We conducted a systematic review in Medline/PubMed and BVS (virtual library in health) databases. We searched for articles that showed the terms “Muscular Dystrophy, Duchenne” and “Pain” in all fields. All studies included boys diagnosed with DMD and the occurrence/amount of pain on this population. Results Initially, there were 175 studies. 167 articles were excluded for not meeting the inclusion criteria. The remaining eight eligible studies, involving pain assessment in DMD, were analyzed. Conclusion Pain is a frequent problem in this population and this symptom is potentially tractable. Studies conclude that pain can directly influence the quality of life of this population.

RESUMO Distrofia muscular de Duchenne (DMD) é uma doença recessiva ligada ao X, caracterizada por fraqueza muscular progressiva. Historicamente a dor não foi considerada como um dos principais sintomas em DMD. Objetivo Investigar a relação entre DMD e dor. Métodos Foi realizada uma revisão sistemática nas bases de dados Medline/PubMed e BVS (Biblioteca Virtual em Saúde). Foram incluídos na busca artigos que mostravam os termos “Distrofia Muscular de Duchenne” e “Dor” em todos os campos. Todos os estudos incluíram meninos diagnosticados com DMD e a ocorrência/intensidade da dor nesta população. Resultados Inicialmente, havia 175 estudos. 167 artigos foram excluídos por não preencherem os critérios de inclusão. Então, 8 estudos elegíveis, envolvendo a avaliação da dor em DMD, foram analisados. Conclusão A dor é um problema frequente nesta população e esse sintoma é potencialmente tratável. Estudos concluíram que a dor pode influenciar diretamente a qualidade de vida dessa população.

Relationship between muscle strength and motor function in Duchenne muscular dystrophy / Relação entre força muscular e função motora na distrofia muscular de Duchenne

ABSTRACT Measuring muscle strength and motor function is part of Duchenne muscular dystrophy (DMD) assessment. However, the relationship between these variables is controversial. Objective To investigate the relationship between muscle strength and motor function and between these variables and age. Method Muscle strength was measured by Medical Research Council (MRC) scale and motor function, by Motor Function Measure (MFM), in 40 non-ambulatory patients. Spearman tests investigated the relationships between muscle strength, motor function and age. Results Total MRC and MFM scores were strongly related to each other (r = 0.94; p < 0.001), but not to age (r = -0.19, r = -0.31, respectively; p > 0.05). Strong and moderate relationships between partial muscle strength and motor function scores were found. Higher correlation coefficients were found between total scores and Dimensions 2 (axial/ proximal control) and 3 (distal control) of MFM. Conclusion Muscle strength and motor function are strongly correlated and seem to decrease proportionally in DMD.

RESUMO Mensurar força muscular e função motora é parte da avaliação em distrofia muscular de Duchenne (DMD). A relação entre essas variáveis é controversa. Objetivo Investigar a relação entre força muscular, função motora e idade. Método Força muscular foi medida pela Medical Research Council (MRC), e função motora pela escala Medida da Função Motora (MFM), em 40 pacientes cadeirantes. Teste de Spearman investigou as relações entre força muscular, função motora e idade. Resultados O escore total da escala MRC e da MFM foram fortemente relacionados entre si (r = 0,94; p < 0,001), mas não com a idade (r = -0,19; r = -0,31, respectivamente; p > 0,05). Foram encontradas correlações fortes e moderadas entre os escores parciais de força muscular e função motora. As relações mais fortes ocorreram entre os escores totais, Dimensão 2 (controle axial/proximal) e 3 (controle distal) da escala MFM. Conclusão Força muscular e função motora estão fortemente correlacionadas e parecem diminuir proporcionalmente na DMD.

Efeito do uso das órteses no prolongamento da marcha de pacientes com distrofia muscular de Duchenne: revisão da literatura / Effect of using orthoses on prolonging ambulation in patients with Duchenne Muscular Dystrophy: review of literature

A capacidade de marcha em pacientes com distrofia muscular de Duchenne diminui progressivamente devido ao avanço da fraqueza e encurtamento muscular. As órteses para membros inferiores são frequentemente prescritas na tentativa de prolongar a marcha nestes pacientes. Objetivo: Realizar uma revisão da literatura a fim de verificar o efeito do uso das órteses em relação ao prolongamento do tempo de marcha. Método: Foi realizado um levantamento bibliográfico nas bases PUBMED, PEDRO e SCIELO com as palavras-chave orthoses, bracing, gait, gait loss, ambulation, Duchenne muscular dystrophy. Resultados: Nos quatorze artigos selecionados foi identificada a prescrição das órteses do tipo KAFO (também chamadas de órteses longas) e AFO, sempre associada a outra intervenção terapêutica. A maioria dos estudos relatou que o uso do dispositivo prolonga o tempo de marcha. Conclusão: O uso da órtese, independentemente do tipo, prolonga a deambulação, pois retarda o avanço de encurtamentos. Assim, sugere-se o início precoce da AFO a fim de minimizar o prejuízo funcional característico da doença.

The walking ability of patients with Duchenne muscular dystrophy gradually decreases due to advancing weakness and muscle contracture. Lower limb orthoses are often prescribed in an attempt to prolong ambulation in these patients. Objective: To perform a literature review in order to verify the relationship between using orthoses and prolonging ambulation. Method: A literature review was performed in the PUBMED, PEDRO, and SCIELO databases with the keywords orthoses, bracing, gait, gait loss, ambulation, and Duchenne muscular dystrophy. Results: In 14 selected articles the prescription of knee-ankle-foot orthoses (KAFO) (also called long orthoses) and ankle-foot orthoses (AFO) was identified, always associated with another therapeutic intervention. Most studies have reported that the use of such a device prolongs ambulation. Conclusion: The use of orthoses, regardless of type, prolongs ambulation, because it delays the progress of muscle contracture. Thus, the early use of AFO is recommended in order to minimize the functional impairment characteristic of the disease.

Comparação da função motora em solo e imersão de pacientes com distrofia muscular de Duchenne em acompanhamento fisioterapêutico - follow-up de 2 anos / Comparison of motor function in patients with Duchenne muscular dystrophy in physical therapy in and out of water: 2-year follow-up

O tratamento para pacientes com Distrofia Muscular de Duchenne (DMD) é multidisciplinar. Faz-se necessário entender os efeitos das atividades executadas em solo e imersão para permitir o desenvolvimento de protocolos de intervenção. Objetivo: Comparar a função motora em solo e imersão, no período de 2 anos, em crianças com DMD em acompanhamento fisioterapêutico. Método: Estudo retrospectivo com 23 pacientes diagnosticados DMD, de 8 a 24 anos, assistidos pela Associação Brasileira de Distrofia Muscular (ABDIM). Foram coletados dados da avaliação em imersão (adaptação ao meio líquido, bipedestação, sedestação, rotação transversal, longitudinal, nado e marcha) e em solo (Escalas Egan Klassification e Vignos), no período de dois anos. Resultados: Na análise das avaliações entre os semestres, no período de 2 anos, houve diferença no desempenho das atividades em imersão (p < 0,001) e não foi observada diferença na Escala Egan Klassification (p < 0,003) e na Escala Vignos (p < 0,012). Conclusão: Devido aos princípios físicos da água os pacientes apresentaram manutenção e melhora do escore da avaliação da função motora em imersão. Em contrapartida, foi demonstrada piora dos escores das Escalas Egan Klassification e Vignos que representam a função motora em solo

The treatment for patients with Duchenne Muscular Dystrophy (DMD) is multidisciplinary. It is necessary to understand the effects of activities performed on dry ground as well as water-immersed to allow the development of intervention protocols. Objective: To compare the motor function of children with DMD in physiotherapy carried out on the ground and immersed over a 2-year period. Method: A retrospective study, assisted by the Brazilian Association of Muscular Dystrophy (ABDIM), of 23 patients diagnosed with DMD, 8-24 years of age. We collected assessment data both water-immersed (adaptation to the water, bipedalism, sitting position, cross and longitudinal rotation, swimming, and running) and on the ground (Egan Klassifikation Scale and Vignos Scale) over a 2-year period. Results: Analyzing the ratings between semesters during the 2-year period, there were differences in the performance of water-immersed activities (p < 0.001) and there was no difference on the Egan Klassifikation Scale (p < 0.003) or the Vignos Scale (p < 0.012). Conclusion: Due to the physical properties of the water, patients either improved or maintained their scores for motor function in water immersion. However, their scores for the Egan Klassifikation and the Vignos scales, which represent motor function on the ground, diminished

Air stacking: effects on pulmonary function in patients with spinal muscular atrophy and in patients with congenital muscular dystrophy, / Efeitos do treinamento de empilhamento de ar na função pulmonar de pacientes com amiotrofia espinhal e distrofia muscular congênita

OBJECTIVE: Respiratory complications are the main causes of morbidity and mortality in patients with neuromuscular disease (NMD). The objectives of this study were to determine the effects that routine daily home air-stacking maneuvers have on pulmonary function in patients with spinal muscular atrophy (SMA) and in patients with congenital muscular dystrophy (CMD), as well as to identify associations between spinal deformities and the effects of the maneuvers. METHODS: Eighteen NMD patients (ten with CMD and eight with SMA) were submitted to routine daily air-stacking maneuvers at home with manual resuscitators for four to six months, undergoing pulmonary function tests before and after that period. The pulmonary function tests included measurements of FVC; PEF; maximum insufflation capacity (MIC); and assisted and unassisted peak cough flow (APCF and UPCF, respectively) with insufflations. RESULTS: After the use of home air-stacking maneuvers, there were improvements in the APCF and UPCF. In the patients without scoliosis, there was also a significant increase in FVC. When comparing patients with and without scoliosis, the increases in APCF and UPCF were more pronounced in those without scoliosis. CONCLUSIONS: Routine daily air-stacking maneuvers with a manual resuscitator appear to increase UPCF and APCF in patients with NMD, especially in those without scoliosis. .

OBJETIVO: As complicações respiratórias são as principais causas de morbidade e mortalidade em pacientes com doenças neuromusculares (DNM). Os objetivos deste estudo foram determinar os efeitos que o treinamento diário domiciliar com manobras de empilhamento de ar tem na função respiratória de pacientes com amiotrofia espinhal (AE) e distrofia muscular congênita (DMC), e identificar possíveis associações entre deformidades na coluna vertebral e os efeitos das manobras. MÉTODOS: Dezoito pacientes com DNM (dez com DMC e oito com AE) foram submetidos a treinamento diário domiciliar de empilhamento de ar com ressuscitador manual por um período de quatro a seis meses e submetidos a testes de função pulmonar antes e após tal período. Os testes de função pulmonar incluíram medidas de CVF, PFE, a capacidade de insuflação máxima (CIM) e a medida do pico de fluxo de tosse não assistido e assistido (PFTNA e PFTASS, respectivamente). RESULTADOS: Após o uso das manobras de empilhamento de ar no domicílio, houve uma melhora significativa na PFTNA e PFTASS. Nos pacientes sem escoliose, houve também um aumento significativo na CVF. No grupo de pacientes sem escoliose, o ganho na PFTNA e PFTASS foi superior ao do grupo com escoliose. CONCLUSÕES: A utilização rotineira diária de manobras de empilhamento de ar com ressuscitador manual parece melhorar a PFTNA e PFTASS em pacientes com DNM, especialmente naqueles sem escoliose. .

Longitudinal assessment of grip strength using bulb dynamometer in Duchenne Muscular Dystrophy

BACKGROUND: Grip strength is used to infer functional status in several pathological conditions, and the hand dynamometer has been used to estimate performance in other areas. However, this relationship is controversial in neuromuscular diseases and studies with the bulb dynamometer comparing healthy children and children with Duchenne Muscular Dystrophy (DMD) are limited. OBJECTIVE: The evolution of grip strength and the magnitude of weakness were examined in boys with DMD compared to healthy boys. The functional data of the DMD boys were correlated with grip strength. METHOD: Grip strength was recorded in 18 ambulant boys with DMD (Duchenne Group, DG) aged 4 to 13 years (mean 7.4±2.1) and 150 healthy volunteers (Control Group, CG) age-matched using a bulb dynamometer (North Coast- NC70154). The follow-up of the DG was 6 to 33 months (3-12 sessions), and functional performance was verified using the Vignos scale. RESULTS: There was no difference between grip strength obtained by the dominant and non-dominant side for both groups. Grip strength increased in the CG with chronological age while the DG remained stable or decreased. The comparison between groups showed significant difference in grip strength, with CG values higher than DG values (confidence interval of 95%). In summary, there was an increment in the differences between the groups with increasing age. Participants with 24 months or more of follow-up showed a progression of weakness as well as maintained Vignos scores. CONCLUSIONS: The amplitude of weakness increased with age in the DG. The bulb dynamometer detected the progression of muscular weakness. Functional performance remained virtually unchanged in spite of the increase in weakness. .

Postural alignment in children with Duchenne muscular dystrophy and its relationship with balance

Background: In Duchenne muscular dystrophy, functional deficits seem to arise from body misalignment, deconditioning, and obesity secondary to weakness and immobility. The question remains about the effects of postural deviations on the functional balance of these children. Objectives: To identify and quantify postural deviations in children with DMD in comparison to non-affected children (eutrophic and overweight/obese), exploring relationships between posture and function. Method: This case-control study evaluated 29 participants aged 6 to 11 years: 10 DMD (DG), 10 eutrophic (EG), and 9 overweight/obese (OG). Digital photogrammetry and SAPo program were used to measure postural alignment and the Pediatric Balance Scale (PBS) was used to measure balance. The Kruskall-Wallis and Dunn post-hoc tests were used for inter-group comparison of posture and balance. Spearman's coefficient tested the correlation between postural and balance variables. Results: The horizontal pelvic alignment data indicated that the anteversion of the DG was similar to that of the OG and twice that of the EG (p<0.05). Compared to the EG, the DG and OG showed an increased forward position of the center of mass (p<0.05). There was a moderate and weak correlation between the PBS score and horizontal pelvic alignment (0.58 and 0.47-left/right). The PBS showed a weak correlation with asymmetries in the sagittal plane (-0.39). The PBS scores for the OG and EG suggest that obesity did not have a deleterious effect on balance. Conclusions: The balance deficit in children with DMD was accompanied by an increased forward position of the center of mass and significant pelvic anteversion that constitutes a compensatory strategy to guarantee similar performance to the children not affected by the disease. .