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WHAT IS SMA (SPINAL MUSCULAR ATROPHY)?

 

SMA is an inherited muscle disease.

It occurs in 1 in every 5000-10000 births.

--The frequency of carrier in the community is 1/50.

--In case the mother and father are carriers, the baby;

-50% healthy but carrier

-25% healthy carrier

-Born as 25% SMA.

--There are five subtypes, SMA type1 being the most common and worst prognosis, diagnosed before 6 months  and usually leading to death before 2 years of age.

The symptoms of the disease are;

* Weakness and thinning in the muscles, this weakness and weakness are symmetrical.

* Joint deformities

* Respiratory failure due to limitation of lung capacity

* Eye palsy, bilateral facial paralysis

*Engine development defects

*The course of the disease is severe in babies with sucking and swallowing difficulties. 

*Heart is normal.

* Consciousness and intellect are normal.

*The course of the disease primarily depends on respiratory function.

--The American College of Obstetricians (ACOG) recommends screening for SMA before pregnancy.

--The mother is screened, if there is no surrogacy, the father does not need to be screened.

--If the mother is a carrier, the father is also tested; If the father is not a carrier, there is no problem, but if the father is also a carrier, healthy embryos can be selected by performing IVF (in vitro fertilization) and  preimplantation genetic diagnosis (PGD).

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