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Distrofia Muscular de Duchenne

RCMOS - Revista Científica Multidisciplinar O Saber
Duchenne muscular dystrophy (DMD) is a recessive X-linked disease, a progressive and incurable disease that primarily affects the skeletal muscles. The dystrophin, a structural protein that is related to stabilization of muscle contraction is absent or altered in DMD.
Candida Luiza Tonizza de Carvalho, Leslie Cristina Pinto Levy, Roberta Muniz Marques   +2 more
  +5 more sources

Distrofia muscular congênita estudo histoquímico do músculo esquelético de 17 pacientes

Arquivos de Neuro-Psiquiatria, 1991
Foram individualizados 17 pacientes com distrofia muscular congênita (DMC) por critérios clínico-laboratoriais e biópsia muscular com estudo histoquímico do músculo deltóide superficial.
Acary S. B. Oliveira, Beny Schmidt, Armando Ferreira Neto, Beatriz H. Kiyomoto, Alberto A. Gabbai, J. G. Camargo Lima   +5 more
doaj   +1 more source

Evidence of Insulin Resistance and Other Metabolic Alterations in Boys with Duchenne or Becker Muscular Dystrophy

International Journal of Endocrinology, Volume 2015, Issue 1, 2015., 2015
Aim. Our aim was (1) to determine the frequency of insulin resistance (IR) in patients with Duchenne/Becker muscular dystrophy (DMD/BMD), (2) to identify deleted exons of DMD gene associated with obesity and IR, and (3) to explore some likely molecular mechanisms leading to IR. Materials and Methods.
Maricela Rodríguez-Cruz, Raúl Sanchez, Rosa E. Escobar, Oriana del Rocío Cruz-Guzmán, Mardia López-Alarcón, Mariela Bernabe García, Ramón Coral-Vázquez, Guadalupe Matute, Ana Claudia Velázquez Wong, Nikolaos Papanas   +9 more
wiley   +1 more source

Systemic Inflammation in Duchenne Muscular Dystrophy: Association with Muscle Function and Nutritional Status

BioMed Research International, Volume 2015, Issue 1, 2015., 2015
Inflammation described in patients with Duchenne muscular dystrophy (DMD) may be related to loss of muscle function or to obesity. It is unknown if circulating proinflammatory cytokines (IL‐6, IL‐1, and TNF‐α) levels are associated with muscle function.
Oriana del Rocío Cruz-Guzmán, Maricela Rodríguez-Cruz, Rosa Elena Escobar Cedillo, Akanchha Kesari   +3 more
wiley   +1 more source

O retardo mental na distrofia muscular de Duchenne

Jornal de Pediatria, 2012
OBJETIVO: Fazer um levantamento da literatura médica destinada ao estudo das disfunções cognitivas nos pacientes com distrofia muscular de Duchenne, através da descrição dos marcos do desenvolvimento neuropsicomotor e dos testes psicométricos para ...
Flávia Nardes, Alexandra P. Q. C. Araújo, Márcia Gonçalves Ribeiro   +2 more
doaj   +1 more source

Body Composition, Muscle Strength, and Physical Function of Patients with Bethlem Myopathy and Ullrich Congenital Muscular Dystrophy

The Scientific World Journal, Volume 2013, Issue 1, 2013., 2013
Objective. To determine the contributions of body mass, adiposity, and muscularity to physical function and muscle strength in adult patients with Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). Materials and Methods. Evaluation involved one UCMD and 7 BM patients.
Maria Teresa Miscione, Francesca Bruno, Claudio Ripamonti, Giuliana Nervuti, Riccardo Orsini, Cesare Faldini, Massimo Pellegrini, Daniela Cocchi, Luciano Merlini, Y. K. Hayashi, G. Onder, L. Scorrano, H. Topaloglu   +12 more
wiley   +1 more source

Alterações do trato digestório de cães da raça Golden Retriever afetados pela distrofia muscular

Pesquisa Veterinária Brasileira, 2010
O modelo experimental canino Golden Retriever portador da Distrofia Muscular (GRMD) é o melhor substituto entre os modelos animais para estudar a Distrofia Muscular de Duchenne.
Alida A.C. Gerger, Carolina C. Souza, Daniele S. Martins, Thaís Gaiad, Marina P. Brólio, Marta R. Luppi, Carlos Eduardo Ambrósio, Maria Angélica Miglino   +7 more
doaj   +1 more source

Distrofia muscular de Becker.

Acta Fisiátrica, 1996
Distrofias musculares são doenças pouco freqüentes e desconhecidas por alguns médicos. Apresentamos um paciente com diagnóstico de Distrofia Muscular do tipo Bec kel; em fase avançada da doença, com achados físicos exuberantes, história familiar e patológica pregressa compatíveis e biópsia muscular característica.
Maria Bernadete Renoldi Oliveira Gavi, Manoel Neves Pimentel, Marcelo Nogueira Silva, Eliete Rabbi Bortolini, Alípio Cesar Nascimento   +4 more
openaire   +2 more sources

Distrofia muscular oculofaríngea: Tratamiento quirúrgico [PDF]

Revista chilena de cirugía, 2009
Surgical treatment of oculopharyngeal muscular dystrophy. Report of two cases Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy that is characterized by ocular and pharyngeal muscle involvement. OPMD typically presents with ptosis, dysarthria, and dysphagia. It can also be associated with proximal and distal extremity weakness. We report two
DÍAZ DE LIAÑO A, ALVARO, FERNÁNDEZ R, LORANS, YÁRNOZ I, CONCEPCIÓN, ARTIEDA S, CRISTINA, GONZÁLEZ A, GREGORIO, ARTAJONA R, ALICIA, ORTIZ H, HÉCTOR   +6 more
openaire   +2 more sources

Distrofia muscular de Duchenne em menina com translocação cromossômica

Arquivos de Neuro-Psiquiatria, 1988
Relato do caso de menina que apresentava clínica e laboratorialmente elementos para o diagnóstico de distrofia muscular progressiva pseudo-hipertrófica de Duchenne, cuja investigação genética revelou translocação cromos&ômica 46,X,t(Bp+, Xq-).
Lineu Cesar Werneck, Silvia M. L. Lemos, Neiva Magdalena   +2 more
doaj   +1 more source