Muscular Dystrophy Duch

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it is a genetic disease inherited in most cases. Apart from rare exceptions, only men are affected in Duchenne myopathy. The mothers are carriers of an anomaly of a chromosome X. They can transmit genetic abnormalities to their children: if you have a child, this is in theory a possibility of having the two disease. If a girl is a possibility of being a carrier 2. Children with Duchenne muscular dystrophy have a near absence of dystrophin, a protein essential for the muscles that is supposedly responsible for maintaining the structure of muscle cells. You can avoid the appearance of this disease when it occurs in a family where there are known cases of this disease, using genetic counseling and prenatal diagnosis. In other cases it can not be avoided.ClinicalThe DMD affects 1 in 3000 to 4000 newborns. Manifests itself clinically between 2 and 6 years with twins seudohipertrofia of muscles, weakness of limbs and muscles of the pelvic girdle, which progresses to the shoulder girdle and upper extremities, with muscle disorders are symmetrical.The first signs may include difficulty in climbing stairs or getting up from the ground. Patients are confined to a wheelchair at the age of 15 years and died around 20 years of respiratory infections or heart failure.The DMD is a disease of skeletal muscle fibers of the pathophysiologic changes that involve the heart, diaphragm and nervous system. Therefore it is necessary to study abnormalities of the dystrophin-glycoprotein complex in the heart and brain.Laboratory data and CabinetThe values of serum CPK creatine are very high in those affected in the preclinical stage, as the disease progresses it tends to decrease. It is noted that the layers bilipídicas protect the release of CPK from the protoplasm in the normal muscle, so the absence of dystrophin in DMD muscle during contraction, there is damage to the lipid layer.EMG is observed in the decrease of the average motor unit potentials and increased polyphase forms that reflect the loss of muscle fiber.Molecular aspectsThe isolation of the gene is located on Xp21. Contains more than 2 million nucleotides and 79 exons. Most of the mutations of the gene of DMD / BMD are deletions intragénicas: 30% are located in the proximal part of 5 ‘exons 2 to 20 and 70% in the distal region of exons 44 to 53. This area suggests that some features of DND predispose breaks or recombination.In 5% of cases there is duplication and 30% did not detect deletions or duplications, and it is unknown molecular sion.Under normal conditions, dystrophin is expressed in skeletal muscle: heart muscle, visceral and vascular smooth and the brain, nervous system, neurons that are primarily expressed.The severe phenotype of DMD caused by deletion or duplication leads to a truncated protein or non-functional. Have described two possible models of DMD pathogenicity: the first suggests that the complex forms a structural bridge between the external basal lamina and the internal cytoskeleton, and when there is no dystrophin is a defect in the membrane that causes muscle is susceptible to breakage during contractile activity plasmalemales, another draws the model as an organizer of dystrophin membrane cytoskeleton, and its role in this aggregation of ion channels and receptors for neurotransmitters.

Within the study of muscle fibers, in addition to the muscle biopsy, there immunohistochemistry. In this process, antibodies are used antidistrofina or against any of the components of the complex called DGC (dystrophin-glycoprotein complex), to assess both the quantity and quality of dystrophin and / or glycoproteins associated with it. The complete absence of dystrophin or figures of less than 3% are specific features of the phenotype of severe Duchenne muscular dystrophy.The treatment, currently only consists of support measures: physical, psychomotor, occupational therapy and control of complications.Treatments are being tested to try to cure muscular dystrophy. Although not cease to be experimental, preliminary data indicate that in the future could be possible to cure this disease.ReferencesDistrofia_muscular_de_Duchenne Accessed on April 29, 2009Muscular Dystrophy Foundation Favaloro Available: http://www.fundacionfavaloro.org/educa _IN_distrofia_muscular.pdf Accessed on April 29, 2009Guizar-Vázquez, Jesús. Clinical genetics. Editorial Manual Moderno. Mexico DF, 2005

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