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SMA (Spinal Muscular Atrophy)

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Khi Ellison

on 8 October 2014

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Transcript of SMA (Spinal Muscular Atrophy)

SMA (Spinal Muscular Atrophy)
SMA is an autosomal recessive disease caused by a genetic defect in the SMN 1 gene, which encodes SMV, a protein widely expressed in all eukaryotic cells. SMN 1 is apperently necessary for survival of motor neutrons, as it diminishes it results in wide muscle wasting. Hence the word atrophy. There are 3 known versions of SMA.
SMA is a genetic disease, meaning it is passed down from parent to child.
Who does it affect?
SMA mostly affects African Americans. Detection is closer to 70%. This is because an undetectable mutation is more frequent in African American populations than in other races.
You can usually notice SMA symptoms at or shorty after birth. SMA babies are usually very weak, have difficulty breathing sucking and swallowing, never reach the milstone of being able to sit on there own.
There is no known treatment for SMA. Although physical therapy is important to prevent contractions of the muscles and tendons and abnormal curvature of the spine. SMA patients can also have rods inserted on the spine to almost straighten out the spine and prevent the lungs from collapsing

Prevention- Genetic counseling is recommended for people with a family history of SMA who want to have children.
An SMA diagnosis must be confirmed through genetic testing.
Diagnosis- Order genetic testing through a blood sample.
Aldolase test- blood test, Aldolase is a protein that helps break down certain sugars to provide MRI of the spine.
Birth Defects: SMA

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