Introdução: A distrofia muscular de Duchenne (DMD) é uma doença progressiva que leva à
degeneração das fibras musculares e fibrose dos tecidos contráteis. Objetivo: Analisar o uso de órtese tornozelo-pé (AFO) nos pacientes com DMD atendidos numa instituição de
referência do estado do Rio de ...
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 ...
INTRODUCTION: Since December 2019, the scientific community has been mobilized to contain the COVID-19 pandemic. Although individuals with Duchenne Muscular Dystrophy (DMD) have restrictive lung disease, risk of immunosuppression and associated cardiomyopathy, they are not considered to be a risk group f...
Se presenta el caso clínico de un adolescente de 18 años de edad, atendido en el Policlínico Docente Armando García Aspurú de Santiago de Cuba por presentar antecedentes de retardo en el desarrollo psicomotor, marcha anadeante, caídas frecuentes, signo de Gowers positivo, fuerza muscular proximal d...
OBJETIVO: Pesquisar as recomendações nutricionais para pacientes com Distrofia Muscular de Duchenne
(DMD). MÉTODO: Trata- se de uma revisão integrativa da literatura, através de levantamento bibliográfico nas bases cientificas PubMed e Scielo, foram utilizadas as palavras chaves: Distrofia Muscula...
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...
Antropometría/métodos,
Progresión de la Enfermedad,
Estudios Longitudinales,
Pruebas de Estado Mental y Demencia/estadística & datos numéricos,
Distrofia Muscular de Duchenne/diagnóstico,
Distrofia Muscular de Duchenne/epidemiología,
Distrofia Muscular de Duchenne/fisiopatología,
Rendimiento Físico Funcional,
Equilibrio Postural/fisiología,
Factores de Tiempo,
Torso/fisiopatología,
Extremidad Superior/fisiopatología,
Pesos y Medidas/normas
Abstract Objective: Duchenne muscular dystrophy, an X-linked genetic disease, leads to progressive muscle weakness mainly in the lower limbs. Motor function tests help to monitor disease progression. Can low-cost, simple assessments help in the diagnostic suspicion of Duchenne muscular dystrophy? The au...
Abstract Duchenne muscular dystrophy (DMD) usually affects men. However, women are also affected in rare instances. Approximately 8% of female DMD carriers have muscle weakness and cardiomyopathy. The early identification of functional and motor impairments can support clinical decision making. Objectiv...
Cardiomiopatías/epidemiología,
Cardiomiopatías/etiología,
Heterocigoto,
Fuerza Muscular/genética,
Fuerza Muscular/fisiología,
Debilidad Muscular/epidemiología,
Debilidad Muscular/etiología,
Distrofias Musculares/epidemiología,
Distrofias Musculares/genética,
Distrofias Musculares/fisiopatología,
Distrofia Muscular de Duchenne/diagnóstico,
Distrofia Muscular de Duchenne/epidemiología,
Distrofia Muscular de Duchenne/genética,
Mutación/genética,
Rendimiento Físico Funcional,
Reacción en Cadena de la Polimerasa,
Prevalencia
OBJETIVO: A distrofia muscular de Duchenne (DMD) é frequentemente associada à deficiência intelectual (DI) e ao prejuízo de funções superiores como leitura, raciocínio, lógica, e memória. O objetivo do estudo foi avaliar o desempenho cognitivo de pacientes com DMD através do Mini-Exame do Estad...
ABSTRACT Duchenne muscular dystrophy is the most common muscle disease found in male children. Currently, there is no effective therapy available for Duchenne muscular dystrophy patients. Therefore, it is essential to make a prenatal diagnosis and provide genetic counseling to reduce the birth of such bo...
