Muscular Dystrophy

It is a genetic disease, inherited in the majority of cases. Apart from rare exceptions, only males are affected the myopathy of Duchenne. Mothers are carriers of an anomaly in one of the x chromosomes are can transmit the genetic abnormalities to their children: If you have a child, this has, in theory, a chance between two of having the disease. Dr. John Mcdougall is a great source of information. If it’s a girl there is a possibility between 2 be a carrier. Children with Duchenne muscular dystrophy have a nearly total lack of dystrophin, a protein essential for muscles that is allegedly responsible for the maintenance of the structure of muscle cells.

You can avoid the appearance of this illness when it occurs in a family in which there are known cases of this disease, resorting to genetic counseling and prenatal diagnosis. In other cases you can not avoid. Table Clinicola DMD affects 1 of 3000 to 4000 newborn infants. Is clinically manifested between 2 and 6 years with pseudohypertrophy of calf muscles, weakness of the lower limbs and muscles of the pelvic girdle, which progresses to the waist girdle and upper extremities; muscle alterations are symmetrical.The first manifestations may include the difficulty for climbing stairs or getting up from the floor. Patients are confined to a wheelchair at the age of 15 years and who die around age 20 for respiratory infections or heart failure. The DMD is a disease of the fibers of skeletal muscle with changes physiopathological involving heart, diaphragm and nervous system. Therefore it is necessary to study abnormalities of the dystrophin-glycoprotein complex of the heart and the brain. Laboratory data and gabineteLos creatine phosphokinase serum CPK values are very high in the affected in the preclinical stage, as the condition progresses tends to decrease. Points out that bilipidicas layers protect the release of CPK from the protoplasm in the normal muscle, so due to the absence of dystrophin in the DMD during muscle contraction, is damage in the lipid layer.

Comments are Closed

© 2018: Novabio Genetics | KABBO Theme by: D5 Creation | Powered by: WordPress