| it is a genetic disease inherited in most cases. | | | | exons. Most of the mutations of the gene of |
| Apart from rare exceptions, only men are | | | | DMD / BMD are deletions intragénicas: 30% are |
| affected in Duchenne myopathy. The mothers | | | | located in the proximal part of 5 'exons 2 to 20 |
| are carriers of an anomaly of a chromosome X. | | | | and 70% in the distal region of exons 44 to 53. |
| They can transmit genetic abnormalities to their | | | | This area suggests that some features of DND |
| children: if you have a child, this is in theory a | | | | predispose breaks or recombination. |
| possibility of having the two disease. If a girl is a | | | | In 5% of cases there is duplication and 30% did |
| possibility of being a carrier 2. Children with | | | | not detect deletions or duplications, and it is |
| Duchenne muscular dystrophy have a near | | | | unknown molecular sion. |
| absence of dystrophin, a protein essential for the | | | | Under normal conditions, dystrophin is expressed |
| muscles that is supposedly responsible for | | | | in skeletal muscle: heart muscle, visceral and |
| maintaining the structure of muscle cells. You can | | | | vascular smooth and the brain, nervous system, |
| avoid the appearance of this disease when it | | | | neurons that are primarily expressed. |
| occurs in a family where there are known cases | | | | The severe phenotype of DMD caused by |
| of this disease, using genetic counseling and | | | | deletion or duplication leads to a truncated protein |
| prenatal diagnosis. In other cases it can not be | | | | or non-functional. Have described two possible |
| avoided. | | | | models of DMD pathogenicity: the first suggests |
| Clinical | | | | that the complex forms a structural bridge |
| The DMD affects 1 in 3000 to 4000 newborns. | | | | between the external basal lamina and the internal |
| Manifests itself clinically between 2 and 6 years | | | | cytoskeleton, and when there is no dystrophin is |
| with twins seudohipertrofia of muscles, weakness | | | | a defect in the membrane that causes muscle is |
| of limbs and muscles of the pelvic girdle, which | | | | susceptible to breakage during contractile activity |
| progresses to the shoulder girdle and upper | | | | plasmalemales, another draws the model as an |
| extremities, with muscle disorders are | | | | organizer of dystrophin membrane cytoskeleton, |
| symmetrical. | | | | and its role in this aggregation of ion channels and |
| The first signs may include difficulty in climbing | | | | receptors for neurotransmitters. |
| stairs or getting up from the ground. Patients are | | | | Within the study of muscle fibers, in addition to |
| confined to a wheelchair at the age of 15 years | | | | the muscle biopsy, there immunohistochemistry. In |
| and died around 20 years of respiratory infections | | | | this process, antibodies are used antidistrofina or |
| or heart failure. | | | | against any of the components of the complex |
| The DMD is a disease of skeletal muscle fibers of | | | | called DGC (dystrophin-glycoprotein complex), to |
| the pathophysiologic changes that involve the | | | | assess both the quantity and quality of dystrophin |
| heart, diaphragm and nervous system. Therefore | | | | and / or glycoproteins associated with it. The |
| it is necessary to study abnormalities of the | | | | complete absence of dystrophin or figures of less |
| dystrophin-glycoprotein complex in the heart and | | | | than 3% are specific features of the phenotype |
| brain. | | | | of severe Duchenne muscular dystrophy. |
| Laboratory data and Cabinet | | | | The treatment, currently only consists of support |
| The values of serum CPK creatine are very high | | | | measures: physical, psychomotor, occupational |
| in those affected in the preclinical stage, as the | | | | therapy and control of complications. |
| disease progresses it tends to decrease. It is | | | | Treatments are being tested to try to cure |
| noted that the layers bilipídicas protect the | | | | muscular dystrophy. Although not cease to be |
| release of CPK from the protoplasm in the normal | | | | experimental, preliminary data indicate that in the |
| muscle, so the absence of dystrophin in DMD | | | | future could be possible to cure this disease. |
| muscle during contraction, there is damage to the | | | | References |
| lipid layer. | | | | Distrofia_muscular_de_Duchenne Accessed on |
| EMG is observed in the decrease of the average | | | | April 29, 2009 |
| motor unit potentials and increased polyphase | | | | Muscular Dystrophy Foundation Favaloro Available: |
| forms that reflect the loss of muscle fiber. | | | | _IN_distrofia_muscular.pdf Accessed on April 29, |
| Molecular aspects | | | | 2009 |
| The isolation of the gene is located on Xp21. | | | | Guizar-Vázquez, Jesús. Clinical genetics. Editorial |
| Contains more than 2 million nucleotides and 79 | | | | Manual Moderno. |