The EMG shows decrease in the average length of the potentials of motor unit and increase in/Polyphasic forms that reflect the loss of muscle fiber. Aspects molecularesEl isolation of the gene has been localized in Xp21. contains more than 2 million nucleotides and 79 exons. Most of the mutations of the gene of DMD/DMB intragenicas deletions are: 30% are located in the proximal 5 exons 2 to 20 and 70% in the distal region of Exon 44 to 53. This area suggests that some characteristics of DND predispose breaks or recombination.
In 5% of cases there are duplications and deletions or duplications are not detected in 30% and it is unknown the le sion molecular. Under normal conditions, dystrophin is expressed in skeletal muscle: muscle cardiac, vascular and visceral smooth and in the brain; in the nervous system, neurons are which essentially expressed it. The severe phenotype of the DMD produced by deletion or duplication gives rise to a protein truncated or not functional. Is they have described two possible pathogenic models of the DMD; the first suggests that the complex forms a structural bridge between the outer basal lamina and the internal of the cytoskeleton, and when there is no dystrophin is produced a defect in membrane that makes it susceptible to breakage plasmalemales muscle during contractile activity; another model points out to the dystrophin as an organizer of the cytoskeletal membrane, and this in your aggregation function of receptors for neurotransmitters and ion channels. Within the study of muscle fibers, in addition to the muscle biopsy, there is Immunohistochemistry. This process uses antibodies to antidistrofina or against any of the components of the so-called complex DGC (dystrophin-glycoprotein complex), evaluating both the quantity and quality of the dystrophin and/or glycoproteins associated with it. The complete absence of dystrophin or figures of less than 3% are specific and characteristic of severe duchenne muscular dystrophy phenotype. The treatment, at present, only consists of supportive measures: physical therapy, psychomotor skills, occupational therapy and control complications.
Treatments that seek to cure muscular dystrophy are being tested. Although they are not still experimental treatments, preliminary data indicate that in the future it could be possible to cure this disease. ReferenciasDistrofia_muscular_de_Duchenne retrieved April 29 2007fundacion Favaloro muscular dystrophy. available in:. fundacionfavaloro. org / educates _IN_distrofia_muscular. PDF consulted on 29 April 2009Guizar-Vazquez, Jesus. Clinical Genetics. Modern Manual editorial. Mexico DF, 2005 student: School of medicine Ignacio Santos. Member of the Committee of research medical. Member of the JOURNAL CLUB EMC medical updates. Member and Supervisor of medical articles since 2007. Member of The Neurology Service On-Line Journal Club. Collaborator renal Pathology MCQs Blogs related the search program 325 danger science Spanish children’s fashion is progressing adequately Telademoda health discover substance that protects patients with Duchenne dystrophy Jaen progresses: presented the ‘rain tree’ CITES to support young mothers Metroquil the daily with recommendations to prevent respiratory infections homage to the mothers and Grandmothers of Plaza de Mayo El Blog de Paca progresses in network.