Results: 9

Distrofia muscular de Duchenne, una causa infrecuente de miocardiopatía dilatada

Rev. méd. Maule; 37 (2), 2022
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 ...

Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy

Arq. neuropsiquiatr; 78 (3), 2020
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...

Avances en el tratamiento de la distrofia de Duchenne
Advances in the treatment of Duchenne muscular dystrophy

Medicina (B.Aires); 79 (supl.3), 2019
La distrofia muscular de Duchenne es una enfermedad genéticamente determinada, ligada al cromosoma X y caracterizada clínicamente por producir debilidad muscular progresiva, con una incidencia de 1 por cada 3500-6000 varones nacidos. Es causada por la mutaciones en el gen DMD, el cual codifica la distr...

First psychotic episode in an adult with Becker muscular dystrophy

Desempenho cognitivo através do mini-exame do estado mental na distrofia muscular de Duchenne

Rev. bras. neurol; 54 (4), 2018
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...

Preimplantation genetic diagnosis associated to Duchenne muscular dystrophy

Einstein (Säo Paulo); 15 (4), 2017
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...

Brazilian consensus on Duchenne muscular dystrophy. Part 1: diagnosis, steroid therapy and perspectives

Arq. neuropsiquiatr; 75 (8), 2017
ABSTRACT Significant advances in the understanding and management of Duchenne muscular dystrophy (DMD) took place since international guidelines were published in 2010. Our objective was to provide an evidence-based national consensus statement for multidisciplinary care of DMD in Brazil. A combination o...