Dystroglycanopathies: Genetic Bases of Muscular Dystrophies Due to Alteration in the O-Glycosylation of α-Dystroglycan

Abstract Congenital muscular dystrophies (CMDs) are inherited, progressive and heterogeneous muscle disorders. A group of CMDs are dystroglycanopathies, also called α-dystroglycanopathies, where there is an abnormal glycosylation of protein α-dystroglycan. Hypoglycosylation of α-DG results in different severities of congenital muscular dystrophies and they present with progressive muscle weakness and loss of motor functions. This article first focuses on the CMDs, their classification according to the observed symptoms or the protein involved in the resulting phenotype. We then focus on dystroglycanopathies, the importance of its correct O-glycosylation of the α-dystroglycan given its important structural function, considering the enzymes involved in said glycosylation and the phenotypes that can result, to finally address current therapeutics for these diseases with the aim of increasing current knowledge.

Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review / Experiência de um único centro em distrofia muscular de cinturas do tipo autossômica recessiva: série de casos e revisão de literatura

Abstract Limb-girdle muscular dystrophy (LGMD) is a group of myopathies that lead to progressive muscle weakness, predominantly involving the shoulder and pelvic girdles; it has a heterogeneous genetic etiology, with variation in the prevalence of subtypes according to the ethnic backgrounds and geographic origins of the populations. The aim of the present study was to analyze a series of patients with autosomal recessive LGMD (LGMD-R) to contribute to a better characterization of the disease and to find the relative proportion of the different subtypes in a Southern Brazil cohort. The sample population consisted of 36 patients with LGMD-R. A 9-gene targeted next-generation sequencing panel revealed variants in 23 patients with LGMD (64%), and it identified calpainopathy (LGMD-R1) in 26%, dysferlinopathy (LGMD-R2) in 26%, sarcoglycanopathies (LGMD-R3-R5) in 13%, telethoninopathy (LGMD-R7) in 18%, dystroglicanopathy (LGMD-R9) in 13%, and anoctaminopathy (LGMD-R12) in 4% of the patients. In these 23 patients with LGMD, there were 27 different disease-related variants in the ANO5, CAPN3, DYSF, FKRP, SGCA, SGCB, SGCG, and TCAP genes. There were different causal variants in different exons of these genes, except for the TCAP gene, for which all patients carried the p.Gln53* variant, and the FKRP gene, which showed recurrence of the p.Leu276Ile variant. We analyzed the phenotypic, genotypic and muscle immunohistochemical features of this Southern Brazilian cohort.

Resumo A distrofia muscular de cinturas (DMC) é um grupo de miopatias que leva à fraqueza muscular progressiva, e envolvendo predominante as cinturas escapular e pélvica. A DMCtem uma etiologia genética heterogênea, com variação na prevalência de subtipos de acordo com as origens étnicas e geográficas das populações. O objetivo deste estudo foi analisar uma série de pacientes com DMC do tipo autossômico recessivo (DMC-R) para contribuir para uma melhor caracterização da doença e encontrar a proporção relativa dos diferentes subtipos em uma coorte do Sul do Brasil. A população amostral foi composta por 36 pacientes com DMC-R. O painel de sequenciamento de nova geração com 9 genes revelou variantes em 23 pacientes com DMC (64%), e identificou calpainopatia (DMC-R1) em 26%, disferlinopatia (DMC-R2) em 26%, sarcoglicanopatias (DMC-R3-R5) em 13%, teletoninopatia (D-MCR7) em 18%, distroglicanopatia (D-MCR9) em 13%, e anoctaminopatia (DMC-R12) em 4% dos pacientes. Nesses 23 pacientes com DMC, havia 27 variantes diferentes nos genes ANO5, CAPN3, DYSF, FKRP, SGCA, SGCB, SGCG e TCAP. Foram encontradas diferentes variantes em diferentes éxons desses genes, com exceção do gene TCAP, para o qual todos os pacientes eram portadores da variante p.Gln53*, e do gene FKRP, que apresentou recorrência da variante p.Leu276Ile. As características fenotípicas, genotípicas e imuno-histoquímicas musculares desta coorte do Sul do Brasil foram analisadas.

Acompanhamento das funções respiratória e motora de crianças com atrofia muscular espinhal e distrofia muscular de Duchenne: um estudo longitudinal / Monitoring of respiratory and motor functions on children with spinal muscular atrophy and Duchenne muscular dystrophy: a longitudinal study

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.

Distrofia muscular congênita merosina negativa: um relato de caso / Congenital muscular dystrophy merosin negative: a case report

A Distrofia muscular laminin subunit alpha 2 (DM LAMA2) é caracterizada pela deficiência da proteína da cadeia laminina α2, apresentando sintomas distróficos que progridem na infância. Objetivo: Apresentar dados da avaliação fisioterapêutica de uma criança com DM LAMA2 em acompanhamento ambulatorial. Métodos: Pesquisou-se em prontuário dados referentes às avaliações fisioterapêuticas de uma criança de 12 anos com diagnóstico de DM LAMA2 atendida em ambulatório especializado. A avaliação caracterizou-se por ausculta pulmonar, espirometria, verificação de parâmetros cardiorrespiratórios, análise do pico de fluxo de tosse (PFT), força muscular respiratória (FMR) e avaliação motora através da escala MFM-32. Resultados: Realizou-se três avaliações durante 9 meses. A paciente possui doença pulmonar restritiva, na primeira avaliação apresentou VEF1= 29% na espirometria e, comparando com a terceira avaliação obteve aumento de 1%, também houve aumento de 2% na relação VEF1/CVF, 5% no PEF e 11% no FEF25-75%. Na FMR, obteve-se valores de PImáx= 17,9% e PEmáx= 7,13% na primeira avaliação com aumento de 16,85% e 5,34% respectivamente, entre primeira e terceira avaliação. O PFT manteve-se em 0L/min em todas avaliações. Na primeira avaliação motora pontuou 25% no escore total da escala MFM-32, aumentando 3,12% na terceira avaliação. Ao longo do acompanhamento iniciou-se o uso da VNI noturna e introduzida a técnica de AS, buscando correção da hipoxemia, apneias noturnas, aumento do PFT e FMR. Conclusão: Paciente apresentou manutenção de parâmetros espirométricos, aumento de variáveis de FMR e função motora, sem piora do quadro. Possíveis resultados decorridos do acompanhamento multiprofissional e especializado.

Laminin subunit alpha 2 muscular dystrophy (DMLAMA2) is characterized by a deficiency of the α2 laminin chain protein, presenting dystrophic symptoms that progress in childhood. Objective: To present data from the physical therapy evaluation of a child with DMLAMA2 in outpatient follow-up. Methods: Medical records were searched for data referring to the physiotherapeutic evaluations of a 12-year-old child diagnosed with DMLAMA2 treated at a specialized outpatient clinic. The evaluation was characterized by pulmonary auscultation, spirometry, verification of cardiorespiratory parameters, analysis of peak cough flow (PFT), respiratory muscle strength (FMR) and motor evaluation using the MFM-32 scale. Results: Three evaluations were carried out during 9 months. The patient has restrictive disease, in the first evaluation she had FEV1= 29% in spirometry, compared to the third evaluation, she had an increase of 1%, there was also an increase of 2% in the FEV1/FVC ratio, 5% in the PEF and 11% in the FEF25-75%. In the FMR, values of MIP=17.9% and MEP= 7.13% were obtained in the first assessment, with an increase of 16.85% and 5.34%, respectively, between the first and third assessments. The PFT remained at 0L/min in all evaluations. In the first motor evaluation, it scored 25% in the total score of the MFM-32 scale, increasing 3.12% in the third evaluation. During the follow-up, the use of nocturnal NIV started and AS technique was introduced, seeking correction of hypoxemia, night apneas, increased PFT and FMR. Conclusion: Patient presented maintenance of spirometric parameters, increased FMR variables and motor function, without worsening the condition. Possible results from the multidisciplinary and specialized monitoring.

Utilidad de la resonancia magnética cardíaca en pacientes con distrofias neuromusculares (distrofia neuromuscular de Duchene/ Becker) / Usefulness of Cardiac Magnetic Resonance Imaging in Patients with Neuromuscular Dystrophies (Duchenne/Becker Muscular Dystrophy)

RESUMEN Introducción: La Resonancia Magnética Cardíaca (RMC) es cada vez más frecuentemente utilizada en pacientes con Distrofia Neuromuscular de Duchene y Becker (DMD y DMB). Por la capacidad de demostrar realce tardío con gadolinio (RTG), que identifica zonas de fibrosis de la pared media y subepicárdica, subendocárdica o global, y el cálculo de la fracción de eyección ventricular izquierda (FEVI), se considera el patrón oro en el diagnóstico y pronóstico de la afección cardíaca de estas distrofias. Objetivos: Determinar por medio de RMC la presencia de fibrosis cardíaca en pacientes con distrofia neuromuscular. Determinar el compromiso neuromuscular y cardiaco. Definir la evolución cardiovascular de estos pacientes Material y métodos: Se realizó un estudio descriptivo de corte transversal de 16 pacientes consecutivos desde marzo de 2021 a julio de 2022 en el Área de imagen cardiaca de CEMET (Centro Médico Tafi Viejo) y Diagnóstico Médico Dr. Gaya de la provincia de Tucumán. Resultados: Se evaluaron 16 pacientes, todos con diagnóstico confirmado de DMD/DMB por laboratorio, enzimas, y test genéticos. La edad promedio fue 19 años. Todos tenían estadio grave de la escala de Vignos y tratamiento neurológico. Todos tenían tratamiento con betabloqueantes o inhibidores de la enzima de conversión de la angiotensina. La RMC evidenció que 4 pacientes tenían deterioro grave de la FEVI (<35%); 8 pacientes tenían trastornos segmentarios o globales de la motilidad parietal del VI y en 12 se observó RTG, de distribución variable: difusa, mesocárdica, subendocárdica y subepicárdica. En 6 pacientes se observó miocardio no compacto y en 2 derrame pericárdico leve. Conclusión: La RMC debe ser incluida como método de cribaje para pacientes con distrofias neuromusculares. Su aporte para la estadificación clínica y terapéutica es de suma importancia.

ABSTRACT Introduction: Cardiac magnetic resonance imaging (CMR) is commonly used in patients with Duchene (DMD) and Becker (DMB) Neuromuscular Dystrophies. Late gadolinium enhancement (LGE) identifies areas of middle, subepicardial, or subendocardial wall fibrosis, and volumetric left ventricular ejection fraction (LVEF) is considered the gold standard in the diagnosis and prognosis of these dystrophies. Myocardial fibrosis occurs in patients with neuromuscular dystrophies. The purposes of our study were to determine the presence of cardiac fibrosis using CMR, to determine neuromuscular and cardiac involvement, and to evaluate the cardiovascular outcomes of these patients. Methods: A descriptive cross-sectional study of 16 consecutive patients was conducted from March 2021 to July 2022 in the Cardiac Imaging Service of Diagnóstico Médico and CEMET- Tucumán. Results: A total of 16 patients were evaluated, 100% of them with confirmed diagnosis of DMD/DMB by laboratory, enzymes and genetic tests. Mean age was 19 years. All patients had severe stage of the Vignos Scale and were under neurological treatment. All patients were also treated with beta-blockers or angiotensin-converting enzyme inhibitors. CMR revealed severe LVEF impairment <35% in 4 patients, segmental or global left ventricular (LV) wall motion disorders in 8 patients, and variable distribution pattern (diffuse, mesocardial, subendocardial and subepicardial patterns) of LGE in 12 patients. Non-compacted myocardium was observed in 6, and mild pericardial effusions in 2 patients. Conclusion: CMR should be included as a screening method in patients with neuromuscular dystrophies. Its contribution to clinical, echocardiographic and therapeutic staging is of utmost importance.

Atuação harmônica de equipe multidisciplinar de saúde: desinternação humanizada / Harmonic performance of multidisciplinary health teams: humanized hospital discharge / Actuación armonizada de un equipo multidisciplinario de salud: la deshospitalización humanizada

Resumo Este relato de caso clínico descreve e analisa uma experiência de desinternação infantil prolongada em um hospital público a partir da atuação harmônica de equipe multidisciplinar de saúde. Além da revisão de literatura, realizou-se estudo qualitativo de finalidade descritiva e exploratória com utilização de técnicas de pesquisa bibliográfica e documental mediante levantamento retrospectivo em prontuários. Os resultados foram discutidos a partir de três categorias: vulnerabilidades físicas, sociais, psicológicas e éticas das doenças crônicas incapacitantes; atuação da equipe multidisciplinar na desinstitucionalização; e políticas de saúde de atenção domiciliar. Concluiu-se que o processo foi capaz de reduzir o tempo de internação e a quantidade de reinternações futuras, reduzir os gastos ao sistema de saúde e reinserir o paciente na comunidade e no âmbito familiar, proporcionando, assim, melhor estruturação do sistema, bem como atendimento humanizado centrado no indivíduo e na família.

Abstract This clinical case report describes and analyzes an experience of prolonged child hospital discharge in a public hospital based on the harmonic action of a multidisciplinary health team. In addition to a literature review, a descriptive and exploratory qualitative study using bibliographic and documentary research techniques was conducted via a retrospective survey in medical records. The results were discussed based on three categories: physical, social, psychological and ethical vulnerabilities of disabling chronic conditions; multidisciplinary teamwork in deinstitutionalization; and home care health policies. We concluded that the process reduced hospitalization time and the number of future hospitalizations, reduced expenses to the health system and reinserted the patient into their community and family environment, thus providing better system structuring and humanized care centered on the individual and family.

Resumen Este reporte de caso clínico describe y analiza una experiencia de deshospitalización infantil prolongada en un hospital público a partir de la actuación armonizada de un equipo multidisciplinario de salud. Este es un estudio cualitativo, descriptivo y exploratorio en que realizó una revisión de la literatura utilizando técnicas de búsqueda bibliográfica y documental a través de un levantamiento retrospectivo de historias clínicas. Los resultados fueron discutidos a partir de tres categorías: vulnerabilidades físicas, sociales, psicológicas y éticas de las enfermedades crónicas incapacitantes; actuación del equipo multidisciplinario en desinstitucionalización; y políticas de salud de atención domiciliaria. Se concluyó que el proceso logró reducir el tiempo de hospitalización y el número de futuros reingresos, reducir costos al sistema de salud y reinsertar al paciente en la comunidad y en la familia, proporcionando así una mejor estructuración del sistema y una atención humanizada centrada en el individuo y la familia.

Ultrasonographic assessment of lower limb muscle architecture in children with early-stage Duchenne muscular dystrophy / Avaliação ultrassonográfica da arquitetura muscular dos membros inferiores em crianças com distrofia muscular de Duchenne em estágio inicial

ABSTRACT Background: Muscle imaging methods such as ultrasound and magnetic resonance imaging have been used for many years to determine the dystrophic process in muscular dystrophies. However, the knowledge regarding muscle architecture in children at early-stage Duchenne muscular dystrophy (DMD) with different functional levels is limited. Objective: To explore the effect of functional level on muscle architectural properties in children with early stage DMD and the difference between DMD and typically developing (TD) peers. Methods: Thirty children with DMD (15 Grade 1 and 15 Grade 2 according to the Vignos Scale) and 5 TD peers were included. Ultrasound imaging was used to measure muscle thickness (MT), fascicle length (FL), and pennation angle (PA) of vastus lateralis (VL) and medial gastrocnemius (MG) muscles bilaterally. Results: The MT and FL values for VL, and MT, FL and PA values for MG muscles were higher in children with DMD compared with those of TD peers (p<0.05). The FL of VL, and MT and FL of GM muscles of children with DMD Grade 2 were higher than those of children with DMD Grade 1 (p<0.05). Conclusions: MT and FL are increased in children with DMD compared with TD peers. Additionally, muscle architecture seems to be affected even at the early stages of the disease.

RESUMO Antecedentes: Métodos de imagem muscular, como ultrassom e ressonância magnética, têm sido usados há muitos anos para determinar o processo distrófico em distrofias musculares. No entanto, o conhecimento a respeito da arquitetura muscular em crianças com distrofia muscular de Duchenne (DMD) em estágio inicial, com diferentes níveis funcionais, é limitado. Objetivo: Explorar o efeito do nível funcional nas propriedades arquitetônicas do músculo em crianças com DMD em estágio inicial e a diferença entre DMD e seus pares em desenvolvimento típico (DT). Métodos: Trinta crianças com DMD (15 Grau 1 e 15 Grau 2 de acordo com a Escala de Vignos) e cinco colegas DT foram incluídos. A ultrassonografia foi usada para medir a espessura muscular (EM), o comprimento do fascículo (FL) e o ângulo de penetração (PA) dos músculos vasto lateral (VL) e gastrocnêmio medial (MG) bilateralmente. Resultados: Os valores de EM e FL para VL e os valores de EM, FL e PA para músculos MG foram maiores em crianças com DMD em comparação com os de seus pares DT (p<0,05). O FL do VL e o EM e o FL dos músculos GM de crianças com DMD Grau 2 foram maiores do que aqueles de crianças com DMD Grau 1 (p<0,05). Conclusões: TM e FL estão aumentados em crianças com DMD em comparação com seus pares DT. Além disso, a arquitetura muscular parece ser afetada mesmo nos estágios iniciais da doença.

Guía de práctica clínica para el diagnóstico y tratamiento de la distrofia muscular de Duchenne. Sociedad Peruana de Neurología. Versión Corta / Clinical Practice Guidelines for diagnosis and treatment of Duchenne muscular dystrophy. Peruvian Neurology Society. Short Version

RESUMEN Objetivo : Elaborar una guía de práctica clínica peruana para el diagnóstico y tratamiento de la Distrofia Muscular de Duchenne y Becker (DMD). Materiales y métodos : Se conformó un grupo elaborador de la guía (GEG) que incluyó médicos especialistas en neurología, neuropediatría, genética y metodología. El GEG formuló ocho preguntas para desarrollar las recomendaciones de la Guía de Práctica Clínica (GPC). Se realizó una búsqueda sistemática en Medline, Scopus y CCRT durante el periodo enero-abril 2021 para responder a las preguntas PICO. La certeza de la evidencia fue evaluada usando la metodología Grading of Recommendations Assessment, Development, and Evaluation (GRADE). Resultados : Las preguntas PICO, se orientaron para explorar el tamizaje, diagnóstico y tratamiento de la DMD. Se formularon 15 recomendaciones (10 fuertes, 5 condicionales) y 11 puntos de buena práctica clínica Conclusión : Se presenta la guía para el diagnóstico y tratamiento de la DMD, elaborada bajo una metodología basada en las evidencias actuales.

ABSTRACT Objective : to provide evidence-based clinical recommendations for the diagnosis and treatment of Duchenne Muscular Dystrophy. Methods : a guideline development group (GEG) was formed that included specialized physicians in the fields of neurology, neuropediatrics, genetics, and methodology. The GEG asked eight clinical questions to be answered by recommendations in this clinical practice guidelines (CPG). We conducted a systematic search and - when deemed relevant - primary studies in Medline, Scopus, and the Cochrane Controlled Register of Trials during 2021 were reviewed. Evidence was selected to answer each of the clinical questions posed. Certainty of the evidence was assessed using the Grading of Recommendations Assessment, Development, and Evaluation (GRADE) system. In periodic work meetings, the GEG used the GRADE methodology to review the evidence and formulate recommendations, points of good clinical practice, and a diagnosis and treatment flowchart. Results : this CPG addressed eight clinical questions, divided into three topics: screening, diagnosis, and treatment. Based on these questions, fifteen recommendations were formulated (10 strong, 5 conditional) and 11 points for good clinical practice. Conclusion : this paper summarizes the methodology and evidence- based conclusions of the CPG for the diagnosis and treatment of Duchenne muscular dystrophy.

Frontal and sagittal patterns of neuromuscular spinal deformities based on nosological profile / Padrões frontais e sagitais das deformidades neuromusculares da coluna vertebral, segundo o perfil nosológico / Patrones frontal y sagital de las deformidades neuromusculares de la columna vertebral según el perfil nosológico

ABSTRACT Objective: Reveal frontal and sagittal patterns of spinal deformity depending on neuromuscular nosology for surgery and outcome planning. The characteristics of spinal deformity vary according to the pathology. In cerebral palsy, muscular dystrophies, and spinal muscular atrophy, specific features of deformities are poorly written, especially in the sagittal profile. Methods: The evaluation criteria were age, gender of the patients, the volume of blood loss, duration of hospitalization, measurement of the deformity curve, thoracic and lumbar kyphosis (Cobb angle), pelvic obliquity concerning the horizontal line, the percentage of curve correction. Cobb angle was measured preoperatively before hospital discharge (up to 21 days postoperatively) and one year after surgery. Results: The cohort of 71 patients with spinal deformities due to neuromuscular diseases included four groups: muscular dystrophy (MD), spinal muscular atrophy (SMA), Duchenne muscular dystrophy (DMD), and cerebral palsy (CP). The most characteristic deformity in the frontal plane was C-shaped thoracolumbar scoliosis with rotation of the pelvis; rotation of the vertebrae increased according to the magnitude of scoliosis. Lumbar hyperlordosis was common in patients with PD, whereas decreased thoracic kyphosis or even thoracic lordosis occurs more frequently in patients with DMD. Moderate correction of scoliosis was observed in all groups. There was no significant improvement in functional status, according to the FIM. Conclusion: The findings showed that rigid hyperlordosis is the main problem of spinal deformities in neuromuscular patients. Scoliosis and pelvic obliquity can be well corrected in NMS by pedicle screw construction with standard maneuvers and pelvic screw fixation. Level of Evidence IV; Lesser quality prospective study.

RESUMO Objetivo: Revelar padrões frontais e sagitais de deformidade espinhal depende da nosologia neuromuscular para cirurgia e planejamento de resultados. As características da deformidade espinhal variam de acordo com a patologia. Na paralisia cerebral, nas distrofias musculares e na atrofia muscular espinhal, as características específicas das deformidades estão mal escritas, especialmente no perfil sagital. Métodos: Os critérios de avaliação foram: idade, sexo dos pacientes, volume de perda de sangue, duração da internação hospitalar, medida da curva de deformidade, cifose torácica e lombar (ângulo Cobb), obliquidade pélvica em relação à linha horizontal, a porcentagem da correção da curva. O ângulo Cobb foi medido no pré-operatório antes da alta hospitalar (até 21 dias de pós-operatório) e um ano após a cirurgia. Resultados: A coorte de 71 pacientes com deformidades espinhais devido a doenças neuromusculares incluiu quatro grupos: distrofia muscular (DM), atrofia muscular espinhal (AME), distrofia muscular de Duchenne (DMD) e paralisia cerebral (PC). A deformidade mais característica no plano frontal era a escoliose toracolombar em forma de C com a rotação da pélvis; a rotação das vértebras aumentou de acordo com a magnitude da escoliose. A hiperlordose lombar era comum em pacientes com DP, enquanto que a diminuição da cifose torácica ou mesmo a lordose torácica ocorre com maior frequência em pacientes com DMD. A correção moderada da escoliose foi observada em todos os grupos. Não houve melhora significativa no status funcional, de acordo com a FIM. Conclusão: Os achados mostraram que a hiperlordose rígida é o principal problema das deformidades espinhais em pacientes neuromusculares. A escoliose e a obliquidade pélvica podem ser bem corrigidas no NMS através da construção de parafusos pediculares com manobras padrão e fixação de parafusos pélvicos. Nível de Evidência IV; Estudo prospectivo de menor qualidade.

RESUMEN Objetivo: La revelación de los patrones frontal y sagital de la deformidad de la columna vertebral depende de la nosología neuromuscular para la planificación de la cirugía y los resultados. Las características de la deformación de la columna vertebral varían según la patología. En la parálisis cerebral, las distrofias musculares y la atrofia muscular espinal, las características específicas de las deformidades están mal escritas, especialmente en el perfil sagital. Métodos: Los criterios de evaluación fueron la edad, el sexo de los pacientes, el volumen de pérdida de sangre, la duración de la hospitalización, la medición de la curva de deformación, la cifosis torácica y lumbar (ángulo de Cobb), la oblicuidad pélvica en relación con la línea horizontal, el porcentaje de corrección de la curva. El ángulo de Cobb se midió antes del alta hospitalaria (hasta 21 días después de la operación) y un año después de la misma. Resultados: La cohorte de 71 pacientes con deformidades espinales debidas a enfermedades neuromusculares incluía cuatro grupos: distrofia muscular (DM), atrofia muscular espinal (AME), distrofia muscular de Duchenne (DMD) y parálisis cerebral (PC). La deformación más característica en el plano frontal era la escoliosis toracolumbar en forma de C con rotación de la pelvis; la rotación de las vértebras aumentaba según la magnitud de la escoliosis. La hiperlordosis lumbar fue común en los pacientes con EP, mientras que la disminución de la cifosis torácica o incluso la lordosis torácica ocurre más frecuentemente en los pacientes con DMD. Se observó una corrección moderada de la escoliosis en todos los grupos. No hubo una mejora significativa del estado funcional según el FIM. Conclusión: Los resultados mostraron que la hiperlordosis rígida es el principal problema de las deformidades de la columna vertebral en los pacientes neuromusculares. La escoliosis y la oblicuidad pélvica pueden corregirse bien en el SMN mediante la construcción de tornillos pediculares con maniobras estándar y la fijación de tornillos pélvicos. Nivel de evidencia IV; Estudio prospectivo de menor calidad.

Cognitive profile of patients with facioscapulohumeral muscular dystrophy / Perfil cognitivo de pacientes com distrofia muscular facioescapuloumeral

ABSTRACT Although it is predominantly a muscular disease, impairments in the central nervous system in patients with facioscapulohumeral muscular dystrophy (FSHD) have been described in the literature. Objective: To describe the cognitive profile of patients with FSHD and to correlate the impairments found with clinical variables and quality of life. Methods: Cross-sectional and case-control study that evaluated FSHD patients using a series of cognitive assessments (Mini-Mental State Examination — MMSE, Montreal Cognitive Assessment — MoCA, verbal fluency with phonological restriction — FAS, categorical verbal fluency — FAS-cat, trail-making test — TMT, and Rey's Verbal Auditory Learning Test); a neurological severity scale (Gardner-Medwin-Walton — GMWS); and a quality of life measurement tool (Medical Outcomes Study 36-Item Short-Form Health Survey). Results: Individuals with FSHD (13) and healthy controls (26) were paired by gender and age. Significant differences between case and control groups were found in MMSE, TMT A, and A7 (p≤0.05) and MOCA (p≤0.001) performances. A positive correlation was verified in long-term memory impairments and the age in which symptoms appear (r=-0.593, p=0.033). Regarding quality of life assessment, the emotional domain correlated to MEEM (r=0.657, p=0.015), TMT A (r=-0.601, p=0.030), and A7 (r=0.617, p=0.025) performances. Conclusions: Individuals with FSHD presented mild impairments in the performance of tasks that involve attention, planning, and long-term memory functions. Those impairments were associated neither with the disease duration nor with its neurological severity.

RESUMO Embora seja uma doença predominantemente muscular, alterações no sistema nervoso central em pacientes com Distrofia Facioescapuloumeral (FSHD) têm sido descritas na literatura. Objetivo: Caracterizar o perfil cognitivo de pacientes com FSHD e correlacionar as alterações encontradas com variáveis clínicas e qualidade de vida. Métodos: Estudo transversal, caso-controle que avaliou pacientes com FSHD por meio de uma série de avaliações cognitivas (Mini Exame do Estado Mental — MEEM; Montreal Cognitive Assessment — MoCA; fluência verbal com restrição fonológica — FAS; fluência verbal categórica — FAS-cat; Trail Making Test — TMT; e Rey's Verbal Auditory Learning Test — RAVLT); uma escala de gravidade neurológica (Gardner-Medwin-Walton — GMWS); e um questionário (Medical Outcomes Study 36-Item Short-Form Health Survey — SF-36). Resultados: A amostra foi composta por 13 indivíduos com FSHD e 26 controles saudáveis, pareados por sexo e idade. A análise comparativa entre os grupos FSHD e controle mostrou diferenças significativas no desempenho cognitivo dos testes MEEM, TMT A e A7 (p≤0.05) e no MoCA (p≤0,001). Verificou-se uma correlação positiva com a idade de início dos sintomas e o prejuízo na memória de longo prazo (r=-0,593, p=0,033). Em relação à qualidade de vida, observou-se uma correlação entre o domínio de limitação emocional e os testes MEEM (r=0,657, p=0,015), TMT A (r=-0,601, p=0,030) e A7 (r=0,617, p=0,025). Conclusões: Pacientes com FSHD apresentaram alterações leves na realização de tarefas que envolvem as funções de atenção, planejamento e memória de longo prazo. Essas alterações não tiveram associação com o tempo de doença nem com sua gravidade neurológica.

Fisioterapia aquática em paciente com distrofia muscular de cinturas do tipo 2b: relato de caso / Aquatic Physical therapy in a patient with Limb-Girdle Muscular Dystrophy, type 2b: a case report

INTRODUÇÃO: A distrofia muscular de cinturas do tipo 2B (DMC2B) é uma doença neuromuscular, degenerativa, rara, hereditária, progressiva, com consequentes prejuízos progressivos na capacidade motora e funcional. OBJETIVO: descrever e analisar os efeitos da fisioterapia aquática sobre a funcionalidade, força muscular, amplitude de movimento e qualidade de vida de uma paciente com diagnóstico DMC2B atendida em projeto de extensão universitária. MÉTODOS: Paciente do sexo feminino, 32 anos, solteira, com diagnóstico genético de Distrofia Muscular de Cinturas do Tipo 2B, nível 3 da escala Vignos (modificada por Garder-Medwin e Walton). O relato de caso apresenta a reabilitação através da Fisioterapia Aquática (hidrocinesioterapia) e seus impactos sobre a força muscular, amplitude de movimento, capacidade funcional e qualidade de vida da paciente (CAAE No. 43505321.0.0000.0018). RESULTADOS: O protocolo de fisioterapia aquática, composto por 12 sessões, 60 min/2x/semana, resultou em melhoras na capacidade funcional global e aumento de 9,52% na avaliação da função motora distal, aumentos de 100% da força de preensão manual e aumento para o limite superior (grau 5) na escala MRC para várias das musculaturas testadas, além de ganho de ADM e melhora expressiva da Qualidade de Vida. CONCLUSÃO: A melhora funcional apresentada pela paciente sugere que a reabilitação funcional fundamentada na fisioterapia aquática, em intensidade leve a moderada, é uma opção terapêutica segura e eficaz para a melhora da força muscular, amplitude de movimento, capacidade funcional e qualidade de vida na DMC2B.

INTRODUCTION: Limb-Girdle Muscular Dystrophy, Type 2B (LGMD2B), is a rare, hereditary, progressive neuromuscular degenerative disease coursing with progressive impairments in motor and functional capacity. OBJECTIVE: To describe and analyze the effects of aquatic physical therapy on the functionality, muscle strength, range of motion, and quality of life of a patient diagnosed with LGMD2B attended on an outreach program. METHODS: A female patient, 32 years old, single, with genetic diagnosis of LGMD2B, level 5 at Vignos scale (modified by Garder-Medwin e Walton). The case reports the Aquatic Physical Therapy rehabilitation protocol (hydrokinesiotherapy) and its impacts on muscle strength, range of motion, functional capacity, and patient quality of life (CAAE No. 43505321.0.0000.0018). RESULTS: The aquatic physical therapy protocol, composed of 12 sessions, 60 minutes/2x/week, resulted in improvements in overall functional capacity and a 9.52% increase of distal motor function, 100% increase in handgrip strength, and increase up to the upper limit (grade 5) on the MRC scale for several of the muscles tested, in addition to increased range of motion and expressive improvement in Quality of Life. CONCLUSION: The patient' functional improvement suggests that water-based physical therapy rehabilitation, at mild to moderate exercise intensity, is a safe and effective therapeutic option for improvement muscle strength, range of motion, functional capacity, and quality of life in LGMD2B patients.

Motor learning through a non-immersive virtual task in people with limb-girdle muscular dystrophies / Aprendizagem motora por meio de tarefa virtual não imersiva em pessoas com distrofia muscular de cinturas

INTRODUCTION: Limb-girdle muscular dystrophies (LGMDs) are neuromuscular and genetic disorders that progress with weakness and damage of the proximal muscles, developing with loss of functionality. Virtual reality environments are suggested as an effective alternative for performance of daily life activities. However, there is no evidence in the literature on the use of virtual reality in this populationOBJECTIVE: Assess motor performance through a motor learning protocol in a coincident timing taskMETHODS: 10 participants with LGMD and 10 healthy individuals were selected and included in the study to perform a non-immersive virtual reality task divided into three phases: acquisition (20 attempts), retention (5 attempts), and transfer (5 attempts, with speed increaseRESULTS: It is observed that the accuracy of movement improves from the beginning to the end of the acquisition (p = 0.01); however, there is a marginal difference between the groups in block A1 (p = 0.089). Regarding the variability of touches, observed by the variable error, both groups improved performance in all phasesCONCLUSION: Even with lower performance than the control group at the beginning of the practice, individuals with LGMD showed the potential to optimize motor function during the practice of a non-immersive virtual reality activity and were able to match their performance with the control group after a few attempts

INTRODUÇÃO: As distrofias musculares de cinturas (DMC) são distúrbios neuromusculares e genéticos que progridem com fraqueza e dano dos músculos proximais, desenvolvendo-se com perda de funcionalidade. Sugere-se ambientes de realidade virtual como uma alternativa eficaz para o desempenho das atividades da vida diária. No entanto, não há evidências na literatura sobre o uso da realidade virtual nessa populaçãoOBJETIVO: Avaliar o desempenho motor através de um protocolo de aprendizagem motora em uma tarefa de timing coincidenteMÉTODO: 10 participantes com DMC e 10 indivíduos saudáveis foram selecionados e incluídos no estudo para realizar uma tarefa de realidade virtual não imersiva dividida em três fases: aquisição (20 tentativas), retenção (5 tentativas) e transferência (5 tentativas, com aumento de velocidadeRESULTADOS: Observou-se que a acurácia do movimento melhorou do início ao final da aquisição (p = 0,01); no entanto, existe uma diferença marginal entre os grupos no bloco A1 (p = 0,089). Em relação à variabilidade de toques, observada pelo erro variável, ambos os grupos melhoraram o desempenho em todas as fasesCONCLUSÃO: Mesmo com desempenho inferior ao grupo controle no início da prática, os indivíduos com DMC mostraram potencial para otimizar a função motora durante a prática de uma atividade de realidade virtual não imersiva e foram capazes de corresponder seu desempenho com o grupo controle após poucas tentativas

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.

Dystrophic muscle distribution in late-stage muscular dystrophy

There is scant information about the comprehensive distribution of dystrophic muscles in muscular dystrophy. Despite different clinical presentations of muscular dystrophy, a recent multi-center study concluded that phenotypic distribution of dystrophic muscles is independent of clinical phenotype and suggested that there is a common pattern of involved muscles. To evaluate this possibility, the present case report used cadaveric dissection to determine the whole-body distribution of fat-infiltrated, dystrophic muscles from a 72-year-old white male cadaver with adult-onset, late-stage muscular dystrophy. Severely dystrophic muscles occupied the pectoral, gluteal and pelvic regions, as well as the arm, thigh and posterior leg. In contrast, muscles of the head, neck, hands and feet largely appeared unaffected. Histopathology and a CT-scan supported these observations. This pattern of dystrophic muscles generally conformed with that described in the multi-center study, and provides prognostic insight for patients and the physicians treating them.

Progression of GNE Myopathy Based on the Patient-Reported Outcome

BACKGROUND AND PURPOSE: GNE myopathy is a rare progressive myopathy caused by biallelic mutations in the GNE gene, and frequently accompanied by rimmed vacuoles in muscle pathology. The initial symptom of foot drop or hip-girdle weakness eventually spreads to all limbs over a period of decades. Recent advances in pathophysiologic research have facilitated therapeutic trials aimed at resolving the core biochemical defect. However, there remains unsettled heterogeneity in its natural course, which confounds the analysis of therapeutic outcomes. We performed the first large-scale study of Korean patients with GNE myopathy. METHODS: We gathered the genetic and clinical profiles of 44 Korean patients with genetically confirmed GNE myopathy. The clinical progression was estimated retrospectively based on a patient-reported questionnaire on the status of the functional joint sets and daily activities. RESULTS: The wrist and neck were the last joints to lose antigravity functionality irrespective of whether the weakness started from the ankle or hip. Two-thirds of the patients could walk either independently or with an aid. The order of losing daily activities could be sorted from standing to eating. Patients with limb-girdle phenotype showed an earlier age at onset than those with foot-drop onset. Patients with biallelic kinase domain mutations tended to progress more rapidly than those with epimerase and kinase domain mutations. CONCLUSIONS: The reported data can guide the clinical management of GNE myopathy, as well as provide perspective to help the development of clinical trials.

Clinical manifestations and genetics analysis of collagen type Ⅵ-related myopathy caused by variants in COL6A3 gene / 中华儿科杂志

Objective@#To summarize the clinical manifestations and determine the molecular etiology for two collagen type Ⅵ-related myopathy pedigrees.@*Methods@#Two spontaneous collagen type Ⅵ-related myopathy patients were admitted to Department of Neurology, Children′s Hospital, Capital Institute of Pediatrics in October 2017. Clinical data of probands and their family members were collected and their genomic DNA was obtained for genetic testing. Next generation sequencing was performed and the variants were verified by the Sanger sequencing in the family members.@*Results@#Target region sequencing indicated that the proband of family 1 has carried a heterozygous variant of COL6A3 gene, c.6229G>C(p.Gly2077Arg), and it was de novo variant confirmed by Sanger-sequencing in the family.The patient 1, a 2-year-three-month old boy, was admitted due to motor retardation at birth. He was defined as early severe Ullrich congenital muscular dystrophy. He never achieved independent ambulation, he had onset of symptoms was found at birth, including diffuse muscle weakness, striking distal joint hyperlaxity, proximal contractures, calcaneal protrusion, kyphosis, and hip dislocation. Serum CK level was elevated slightly and EMG showed neurogenic changes. The patient 2, a 7-year-old girl with a limp for 4 years, carried one de novo variant of COL6A3 gene,c.5169_5177del (p.Glu1724_Leu1726del). This variant results in the deletion of amino acids (1724 to 1726) in α3 chain of collagen Ⅵ, which may disturb the function of this protein.She was diagnosed as Bethlem myopathy with a mild phenotype. She had delayed motor milestones and presented with walking on tiptoe, hypotonia, and ithylordosis. The contracture of proximal joints was not very obvious. Serum CK level was normal and EMG showed myogenic changes.Muscle biopsy revealed muscular dystrophy and muscle magnetic resonance imaging of patient 2 showed vastus lateral is a "sandwich" sign. Immunofluorescence staining for COL6A3 chain in the cultured skin fibroblasts from patients 2 showed decreased deposition compared with control.@*Conclusions@#These two patients were diagnosed as spontaneous collagen type Ⅵ-related myopathy and carried different variants of COL6A3 gene. Different in pathogenetic variants could cause different genetic features and different phenotypes. Collagen type Ⅵ- related myopathy patients have various clinical manifestations. Typical phenotypes include muscular dystrophies, proximal contractures, and distal hyperlaxity. Muscle MRI shows diffuse fatty infiltration of gluteus maximus and thigh muscle. The histological staining showed the low level expression of COL6A3 chain. The seventy of phenotype was related to the genotype.

Progresses of cardiac MRI in diagnosis of myodystrophic cardiomyopathy / 中国医学影像技术

Muscular dystrophy is a group of heterogeneous diseases with multiple subtypes, manifesting with progressive weakness and degeneration of skeletal muscle. Duchenne and Becker muscular dystrophy are the two most common types. The myocardium can be involved by muscular dystrophy, and heart-related diseases become the leading cause of death. Early detection of heart involvement with effective examination is of great value to improve the prognosis of patients. Cardiac MRI, including gadolinium delayed enhancement, T2 weighted black blood sequence, T2 mapping, native T1 mapping, extracellular volume and myocardial strain, can detect cardiac injury in the early stage of disease and provide strong evidences for early intervention and treatment, also measure left ventricular volume and left ventricular ejection fraction accurately and quantitatively, therefore having significant advantages in standardized treatment and evaluation of new therapies. The progresses of cardiac MRI in diagnosis of myodystrophic cardiomyopathy were reviewed in this paper.

Quantification of fat content of lower limbs using iterative decomposition of water and fat with asymmetry and least squares estimation?quantitative fat imaging in Duchenne muscular dystrophy / 中华放射学杂志

Objective To evaluate the fatty infiltration of lower limbs (pelvis, thighs and calf) by using iterative decomposition of water and fat with asymmetry and least squares estimation‐quantitative fat imaging (IDEAL‐IQ) in Duchenne muscular dystrophy (DMD) patients, and correlate muscle fat fraction(FF) with clinical assessments. Methods The prospective study method was applied, twenty‐one patients with DMD were diagnosed by genetic analysis and/or muscle biopsy and twenty‐one age‐matched healthy control subjects, were evaluated using IDEAL‐IQ, calculating fat fraction (FF) of muscles in the lower limbs. The clinical data of patients, such as age, height, weight, course of disease, time to walk 10 m, Medical Research Council Scale score, were collected. The age and height between DMD group and control group were compared by independent sample t test. The weight, BMI and FF values between two groups were compared by independent samples nonparametric tests (Mann‐Whitney U tests). K related samples nonparametric test (Friedman test) was used for comparison of FF values between pelvic muscles, thighs muscles and calf muscles. The relationships between FF values and clinical assessments were investigated using Spearman correlation test. Results The mean FF of pelvic muscles [13.1(6.9, 33.8)] was significantly higher than that of the thighs muscles [8.3 (23.4, 4.5)] and calf muscles [8.3 (23.4, 4.5)] (all P<0.05) in DMD group. The FF of all the pelvic muscles in DMD were significantly higher than that of the control group muscles (all P<0.05). The gluteus maximus had the greatest mean FF values [34.7 (26.4, 63.7)] in pelvic muscles. The FF of all the thigh muscles in DMD were significantly higher than that of the control group muscles, except for the sartorius, adductor longus and gracilis (Z=0.69, 1.67 and 1.22, respectively, P=0.489, 0.094 and 0.222, respectively). The adductor magnus had the greatest mean FF values [27.2 (12.4, 58.5)] in thigh muscles. The FF of all the calf muscles in DMD were significantly higher than that of the control group muscles, except for the tibialis anterior and tibialis posterior (Z value was1.77 and 1.85, respectively, P value was 0.076 and 0.064, respectively). The gastrocnemius lateral had the greatest mean FF values [7.4 (4.6, 20.9)] in calf muscles. The mean FF value of pelvic muscles (r=0.679, 0.704,?0.761, 0.755, respectively, all P<0.001), thighs muscles (r=0.801, 0.813,?0.738, 0.706, respectively, all P<0.001) and calf muscles (r=0.502, 0.682,?0.637, 0.664, respectively, all P<0.05) were significantly correlate with age, course of disease, %MRC and time to walk 10 m. Conclusions The fat infiltration of lower limbs in DMD patients showes a distinct involvement pattern. IDEAL‐IQ technique is able to quantitatively and objectively evaluate the degree of fat infiltration of lower limbs in DMD, and it has great value in clinical application.

Implicaciones anestésicas de las distrofias musculares / Anesthetic implications of muscular dystrophies

Abstract Introduction: Muscular dystrophies are a group of genetic diseases characterized by the compromised synthesis or regeneration of the muscle contractile proteins. Although they belong to the same group of diseases, they have different characteristics in their clinical presentation and in their genetic origin. These diseases are classified as orphan as they have a low incidence among the general population, but represent a huge anesthetic challenge, particularly among the pediatric population. Objective: To describe the main clinical aspects of muscular dystrophies, their etiology, anesthetic implications, and the major complications that may occur during the perioperative management. Methodology: A review article is discussed based on a systematic search of the literature to produce a descriptive review. The main source of information is case reports obtained from databases as PubMed, Google Scholar, and websites specialized in rare diseases, to describe the main anesthetic implications of muscular dystrophies. Results: A total of 65 references were identified by the authors in accordance with the relevance of the topic for the final review. Conclusion: Muscular dystrophies are a heterogeneous group of diseases that share a common etiology due to direct injury of the muscle fiber with a progressive and systemic compromise. Each type of muscular dystrophy is different in terms of its clinical presentation, genetic origin, and anesthetic risks which are mainly cardiovascular complications due to malignant arrhythmias, acute rhabdomyolysis triggered by drugs used in anesthesia, and perioperative respiratory failure.

Resumen Introducción: Las distrofias musculares son un grupo de enfermedades genéticas que se caracterizan por compromiso en la síntesis o regeneración de las proteínas contráctiles del musculo. Aunque pertenecen al mismo grupo de enfermedades tienen características muy diferentes en su presentación clínica y en su origen genético. Estas enfermedades se clasifican como huérfanas debido a que tienen una incidencia muy baja en la población general, pero representan un enorme reto anestésico, especialmente en la población pediátrica. Objetivo: Describir los principales aspectos clínicos de las distrofias musculares, su etiología, implicaciones anestésicas y principales complicaciones que pueden ocurrir durante el perioperatorio. Metodología: Se presenta un artículo de revisión basado en una búsqueda sistemática de la literatura para una revisión descriptiva, donde la principal fuente de información son los reportes de caso obtenidos en las bases de datos de pubmed, google académico y páginas web especializadas en enfermedades raras, con el propósito de describir las principales implicaciones anestésicas de este grupo de enfermedades. Resultados: Se obtuvo un total de 65 referencias bibliográficas las cuales fueron seleccionadas por los autores de acuerdo con la relevancia del tema para la revisión final. Conclusión: Las distrofias musculares son un grupo heterogéneo de enfermedades que comparten una etiología común que es la lesión directa en la fibra muscular con un compromiso sistémico progresivo. Se diferencian en su presentación clínica, origen genético y riesgos anestésicos que son principalmente complicaciones cardiovasculares por arritmias malignas, rabdomiolisis aguda desencadenada por fármacos utilizados en la anestesia y falla respiratoria perioperatoria.

Partnership Between Families of Children with Muscular Dystrophy and Health-care Professionals: From Parents' Perspective

PURPOSE: At present, there is still controversy between parents of children with muscular dystrophy (MD) and health-care professionals on care issues. Partnerships can connect the affected children and their families to appropriate health-care services, to jointly face the care environment together and thereby improve the quality of life of children with MD. Therefore, the objective of this study was to explore partnerships between families and health-care professionals from the perspectives of parents of children with MD. METHODS: Husserl's phenomenological research was applied to explore the basic structures of parents' descriptions of MD. Through purposive sampling, we conducted in-depth interviews with parents, and analyzed the data according to the theory of Giorgi. Nineteen parents (10 mothers, 9 fathers) participated in this study. The precision of the research results was tested by applying the four standards of Lincoln and Guba. RESULTS: This study identified five constituents: feasible resources and detailed care information; the provision of an integrated medical care across systems; family and home as key elements in critical care; respect and care for family care demands; and finally, feedback and support from families. CONCLUSION: This study demonstrated that partnerships were established by health-care professionals, enhancing the care capacity of the families, developing the preventive medicine of MD, and enhancing children's potential for self-care within the families. Hospital policies should include the promotion of family partnership care. The findings can help health-care professionals recognize the life experiences of children with MD when providing medical care.