Mental retardation in Duchenne muscular dystrophy
نویسندگان
چکیده
منابع مشابه
P164: 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 کاملMental retardation and lifetime events of Duchenne muscular dystrophy in Japan.
OBJECTIVE This study investigated the relationship between mental retardation and lifetime events in patients with Duchenne muscular dystrophy (DMD). METHODS The data on mental retardation and ages of lifetime events (first walking, loss of ambulation, introductions of ventilator support and tube nutrition and death) were collected retrospectively, and the relationships between the factors we...
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 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: Jornal de Pediatria
سال: 2012
ISSN: 0021-7557
DOI: 10.2223/jped.2148