Baumgartner M, Argüello RD

Language: Spanish
References: 14
Page: 315-318
PDF size: 106.92 Kb.

ABSTRACT

Duchenne’s Muscular Dystophy (DMD) is the most common hereditary muscular dystrophy of infancy. It affects 1 out of every 3500 male born alive; it has an X- linked recessive pattern of heritage, and it’s characterized by progressive muscular weakness, loss of the ability to walk, and leads to death between the second and third decade of life. DMD is caused by a variety of mutations, such as deletions, duplications, and point mutations of the gene that codifies for dystrophin, which is a structural protein of the muscle. Because DMD is an X-linked recessive disease, most of the affected family members have a 50% chance of having affected sons, and a 50% chance of having carrier daughters. Given that women have two chromosome X copies, if one copy has the normal gene, this would make enough protein to prevent symptoms, but men only have one chromosome X from their mother, and one chromosome Y from their father, so if chromosome X is defective, he will develop the disease. One distinctive characteristic although not invariable of this disease is the widening of the calf muscles (pseudohypertrophy), caused by deposition of fibrofatty tissue instead of muscular tissue. Progression is fast and irreversible, and marked by wasting of proximal muscles, particularly of the pelvis. At this time there isn’t a known treatment to stop or prevent the dystrophic process, but medical management can increase mobility, maximize independence in daily activities, and comfort the patient. The use of orthopedic devices and physical therapy, can maintain for a long time the treatment of patients in an ambulatory manner, minimize contractures and retard escoliosis. This revision pretends to actualize the medical knowledge, so that this patients have proper attention.

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