Mutation Story

Have you ever wonderd what happend to me Spinal muscular atrophy as a gene, well let me tell u that Chromosome 5 SMA was caused by a deficiency a motor of neuron protein called SMN it stands for “survial of motor neuron” and SMN’s deficiency is caused by genetic flaws (mutations) on chromosome 5 in a gene called SMN 1. Since im a mutatio you may wonder what caused me to be in my hosts body well the most common form of the 4 types of SMA is caused by a defect a mutation in the SMN 1 gene on chromosome 5. Most people have two SMN1 genes one on each chromosome 5. A mutation in the SMN1 gene leads to a deficiency which is a motor neuron protein called SMN its for the survival of the motor neuron. After all the mutations in the SMN1, UBA1, DYNC1H1 and the VAPB genes they cause what i am called today spinal muscular atrophy. And now have you ever wondered how my host lived his life and find out his story well it all started when i was atleast 6 – 18 months old and i had a difficulty walking, siting and standing and i would always have a week cough or a week cry, and as i grew older and i saw more doctors then someone that should in one lifetime they asked me if i had an overall, they asked me if i had overall muscle weakness or poor muscle tone and everything they asked me about my body like if i had a limpness or a tendency to flop all of that was true i did have all of that and finaly the one last doctor told me that i have something called spinal muscular atrophy and at first i was devestated but in the end i lived with it through out my whole life still living to this day still trying to live like this it was hard over the years but i got used to it and in the end lived my life like it was normal and that everyone had it like me.

Some of the questions that i researched was the signs that you have Spinal muscular atrophy some symptoms, what effects does it have on a body, what happends to it as a gene and what mutations cause this to happen to someone. my process was going about reasearching the most i can about spinal muscular atrophy, and i verifyed by looking for the same info on other websites. what i maybe could have done was make the story a bit better and polish it up so its more nice and makes a bit more sence but in my eyes i think that my story is pretty good and that it should make some sence when you read my story about spinal muscular atrophy

 

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