Duchenne and Becker muscular dystrophy



Muscular Dystrophy, Duchenne Type; Dmd

Tipo de test: 

Tiempo de espera: 

25 dias

Más información

Duchenne muscular dystrophy is a genetic serious dystrophinopathy, which involves striated muscle breakdown. Presents an autosomal recessive X-linked
Duchenne-Becker muscular dystrophy is associated with mutations in the DMD gene (Xp21.2-p21.1) that encodes dystrophin, a large protein essential for cardiac and skeletal muscle.
Dystrophin, along with other proteins, is capable of forming a glycoprotein aggregate which serves for reinforcement and support to the muscle surface membrane. Thus, this protein avoid the possible damage to the membrane during the process of muscle contraction and relaxation, and it prevents tissue necrosis.
Among individuals reported, deletions of one or more exons of the dystrophin gene are the most common mutations, wich originate displacement reading frame..
Between muscular dystrophies associated with dystrophin, there are less severe pathologies such as Becker muscular dystrophy (BMD), which appears older than DMD.
Duchenne muscular dystrophy usually arises in early childhood, as signs showing the difficulty in moving, progressive wasting and weakness. However, the disease progresses rapidly, and children affected with DMD may become wheelchair dependent from twelve. Cardiomyopathies often appear later in a more advanced state. Heart failure being the main cause of death. The odds of surviving beyond 40 years are limited.
Being an X-linked disease, detection of female carriers is essential as a woman to present a dystrophin mutant allele have a 50% chance of transmitting the mutation to their decency. Likewise, children who receive allele will be sick and daughters will be carriers with possibility to develop the disease.


Tomado de GeneReviews




X-linked recessive