Spinal Muscular Atrophy

What is Spinal Muscular Atrophy?

Spinal Muscular Atrophy, or SMA, is a progressive, rare genetic disease, yet it is the number one genetic cause of infant death. There are 4 types of SMA, type 1 being the most severe.

SMA Type I is cause of infant death as it is the most severe and common type for this disease. Those affected rarely live past the age of two due to their rapid decline in strength and mobility. Examples of this decline would be difficulty swallowing, holding their head up, as well as breathing.

SMA Type II allows most patients to live somewhat normally to either childhood or adulthood, depending on the severity of the patient’s condition. The legs are what this disease targets more than their upper body. Similar difficulties affect this type, however they are not as severe. Those with SMA II can never walk.

SMA Type III usually exhibits symptoms in patients closer to adulthood, however they can be affected as early as 18 months. These patients can stand and walk a little, but will most likely have difficulty getting up to walk. Most patients with Type 3 SMA have a life expectancy close to normal.

SMA Type IV is the most rare of this disease. Symptoms for this type of SMA do not usually emerge until the second or third decade of life. Patients with Type 4 SMA can walk during adulthood but will usually experience slowly progressive muscle weakness and other typical SMA symptoms.

What Causes SMA?

Spinal Muscular Atrophy is a genetic disease that requires both parents to have one non-working copy, and one working copy, of the SMN1 gene.

The human body makes 2 proteins that allows the body to function properly. SMN1 & SMN2 (Spinal Motor Neuron). The SMN1 Protein makes up 90% of your muscle strength/mass and the SMN2 makes up the other 10%.

People with SMA have a defect in their DNA that causes the SMN1 Protein in their genetic code to either be mutated or deleted when their DNA replicates itself. Therefore making the individual physically weak.

Once the SMN1 Protein is completely gone or mutated, the DNA of an SMA patient begins to do the same to the other SMN Protein. This is what continues to make individuals with this disease progressively weaker.

How does SMA affect everyday life?

Due to the body slowly losing strength as the individual gets older, life gets slightly more difficult. The body of someone with Spinal Muscular Atrophy can be compared to being strapped down with bungee cords, then asking a fully functioning person to scratch their nose.

Many require power wheelchairs, others only manual wheelchairs. All of them are able to move their limbs, even just a little, independently or with help. As well as being able to feel every inch of their skin, unlike the paralyzed.

How does this affect the Author?

Well, now I can talk a bit less professionally. As SMA is a genetic disease, I was born with it. Therefore I know nothing other than moving around with my power wheelchair, being lifted to go to bed, having someone get me dressed, or help me eat, as well as many other things many people take for granted.

Yes, I’m physically weak. Yeah… It isn’t exactly the ideal way to live, but I don’t feel sorry that I am disabled. I’ve gotten to do and learn many things that others haven’t since I have a lot of downtime. I draw, I write poetry and stories, I go outside, even went to school. All I needed was a little bit of help from someone, or something else.

Is there a cure or treatment for SMA?

There is only one FDA approved treatment for Spinal Muscular Atrophy called Spinraza. It was fast tracked by the FDA when the treatment was brought to their attention, and they saw that the children that would typically pass by their second birthday were living far beyond that date.

Each child was noticeably stronger than those on the placebo, fake drug. Since it was a double blind study, where neither the doctor or the patient knew if they were receiving the medication, the results were that much more valid.

How does Spinraza help SMA?

Spinraza is an SMN-enhancing therapy that works by targeting the SMN2 gene, causing it to make more complete protein. Spinraza is an antisense oligonucleotide. Antisense drugs are small snippets of synthetic genetic material that bind to ribonucleic acid (RNA), so they can be used to fix splicing errors in genes such as SMN2.

What does this mean in simple terms?

Spinraza stops the DNA from deleting the SMN2 Protein by basically putting a border around it so my DNA replicates it as it’s supposed to.

Does it last forever?

No, it is a treatment that is taken every 4 months. If this treatment is stopped, the effects will reverse. The body does not learn to survive without the medication, so the individual will become weaker at a seemingly rapid pace.

Does the author take this medication? Does it help?

Yes indeed I do! I’ve been on it for over 2 years now, and I have become noticeably stronger. I had a surgery over 9 years ago that took away my ability to swim without assistive devices. Recently, I have begun to regain this skill. I also could never draw, write, or paint for long periods of time. Now, I can spend a whole day doing any of those activities.

But the best thing about this medication is that I am no longer unable to enjoy a meal without food becoming lodged in my throat. I am now not afraid to sit unassisted on the side of my bed as I get ready for the day. I now see a future that I never thought was possible.

If you read this, I can’t thank you enough. If you still have questions, please let me know so I can add it to this Wiki.

Sources:

https://www.curesma.org/spinraza/

https://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy

https://my.clevelandclinic.org/health/diseases/14505-spinal-muscular-atrophy-sma

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