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2018, Number 2

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Cuba y Salud 2018; 13 (2)

Duchenne Muscular Dystrophy. About a case

Viñet ELM

Language: Spanish
References: 12
Page: 119-122
PDF size: 489.56 Kb.


ABSTRACT

The Progressive Muscular Distrofias commits in a serious and irreversible way the skeletal musculature of the human organism, inside them the Muscular Distrofia of Duchenne (DMD) it is the most frequent and it constitutes a bound genetic dysfunction to the chromosome X that affects mainly masculine children.
The case of a boy is described, with family pathological antecedents and clinical square of Muscular Distrofia of Duchenne that the family ignored the hereditary character of the same one. He was carried out the extracciòn of DNA starting from the saliva whose molecular study confirmed the diagnosis of DMD.
In the distrofinopatías it is important to carry out the precocious diagnosis for r to prevent the advance and complications of the illness, offering to the family the advice for the patient’s care, as well as the study possibility and genetic advice that it allows them an appropriate family planning.


REFERENCES

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