The role of early diagnosis of muscular dystrophy

Velickova, Nevenka and Gacova, Marina (2010) The role of early diagnosis of muscular dystrophy. In: Kongres fizijatara Srbije sa međunarodnim učešćem, 2-5 June, 2010, Kladovo, Serbia.

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Background: Muscular dystrophy (MD) is a genetic disorder that gradually weakens the body's musclesIt's caused by incorrect or missing genetic information that prevents the body from making the proteins needed to build and maintain healthy muscles. This form occurs because of a problem with the gene that makes dystrophin, a protein that helps muscle cells keep their shape and length Girls can carry the gene that causes the disease, but they usually have no symptoms..
Aim: To evaluate the role of early diagnosis of muscular distrphy at the children hospitalized in the children’s ward in Stip.

Methods: When first suspecting that a child has muscular dystrophy, a doctor will do a physical exam, take a family history, and ask about any problems — particularly those affecting the muscles — that the child might be having. But in 95% of the cases, MD is not possible to diagnosed by physical exam after birth. Other reasons for that are the symptoms who vary so widely between individuals.
Results: We have councluded that 95% of the children doesn’t have any symptoms of MD after birth. After 5 years they develope a diffrent stages of MD. The obtain results suggest that doctors must introduce any suspect symptoms of MD, to require blood test to check the DNA for gene abnormalities (Lab tests may include blood level of the muscle enzyme creatine kinase - CK) or a muscle biopsy to examine a muscle tissue sample.
Conclusion: When MD is find aut early then physiatrist can slow muscle deterioration and prolonged their life’s. Physical therapy can help a child maintain muscle tone and reduce the severity of joint contractures with exercises that keep the muscles strong and the joints flexible.


Item Type: Conference or Workshop Item (Speech)
Subjects: Medical and Health Sciences > Basic medicine
Medical and Health Sciences > Health sciences
Divisions: Faculty of Medical Science
Depositing User: Nevenka Velickova
Date Deposited: 24 Nov 2012 13:18
Last Modified: 26 Nov 2012 09:36

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