Distrofia muscular de Duchenne
نویسندگان
چکیده
Objetivo: Analisar as características da Distrofia Muscular de Duchenne (DMD). Revisão bibliográfica: A DMD é a distrofia muscular infantil mais comum em todo o mundo, sendo uma doença recessiva ligada ao X, causada por mutações no gene que codifica distrofina, afetando 1 3.500 5.000 meninos. distrofina grande proteína do citoesqueleto facilita interações entre citoesqueleto, membrana celular e matriz extracelular. Na DMD, está ausente ocasiona fragilidade permeabilidade excessivas membrana, desregulação homeostase cálcio dano oxidativo. Os sintomas se manifestam durante primeira infância, piorando progressivamente com perda deambulação, e, posteriormente, insuficiência respiratória cardíaca. Considerações finais: neuromuscular há fraqueza severa morte aproximadamente aos 30 anos decorrência cardiorrespiratória. Atualmente, não existe cura para doença, aplicadas medidas suporte. administração glicocorticóides, como prednisona deflazacort, deve ser iniciada imediatamente após diagnóstico objetivo preservar função muscular. Além disso, ventilação invasiva devem fornecidas os pacientes precisam.
منابع مشابه
Air stacking and chest compression increase peak cough flow in patients with Duchenne muscular dystrophy* Empilhamento de ar e compressão torácica aumentam o pico de fluxo da tosse em pacientes com distrofia muscular de Duchenne
Objective: To evaluate cough efficiency using two manually-assisted cough techniques. Methods: We selected 28 patients with Duchenne muscular dystrophy. The patients were receiving noninvasive nocturnal ventilatory support and presented FVC values < 60% of predicted. Peak cough flow (PCF) was measured, with the patient seated, at four time points: at baseline, during a spontaneous maximal expir...
متن کاملDuchenne muscular dystrophy An overview of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) affects approximately 1 in 3,500 live male births [1]. It is caused by a large variety of mutations in the dystrophin gene. Because of these mutations, the body can no longer make dystrophin which is a protein important for stabilisation of the muscle cell during a contraction. Without dystrophin, muscle cells are damaged and slowly replaced by fat and scar tis...
متن کاملP164: Adeno-Associated Viral Vectors in Duchenne Muscular Dystrophy
Duchenne muscular dystrophy (BMD) is an inherited X-link disease. The incidence of this muscle-wasting disease is 1:5000 male live births. Mutation in the gene coding for dystrophin is the main cause of BMD. Most cases of this disease succumb to respiratory and cardiac failure in 3rd to 4th decades. The slow progression of BMD and recent achievement of gene therapies make it as an appropriate c...
متن کاملDuchenne muscular dystrophy.
Progress in understanding the role of dystrophin raises promising hopes for a treatment for Duchenne muscular dystrophy. In addition, great improvements have been made in the ability to diagnose this disease using simple molecular methods.
متن کاملDuchenne muscular dystrophy.
To cite: Behera V, Behera MK, Chauhan R, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014205296 DESCRIPTION A 15-year-old boy presented with progressive proximal weakness of the lower limbs starting at 4 years of age followed by involvement of the upper limbs. He is the product of a consanguineous marriage; he had a family history of similar disease in ...
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ژورنال
عنوان ژورنال: Revista Eletrônica Acervo Saúde
سال: 2023
ISSN: ['2178-2091']
DOI: https://doi.org/10.25248/reas.e12912.2023