Search

What is SMA? And Get To Know: Aaron Warren!


Spinal muscular atrophy (SMA) is a neurodegenerative disease characterized by loss of motor neurons in the anterior horn of the spinal cord resulting in progressive proximal muscle weakness and paralysis. SMA is the second most common autosomal recessive disorder after cystic fibrosis.

The most common form of SMA, accounting for 95% of cases, is autosomal recessive proximal SMA associated with mutations in the survival of motor neurons (SMN1) gene

How is it diagnosed?

Spinal muscular atrophy is sometimes difficult to diagnose, as symptoms can resemble other conditions or medical problems. Doctors usually diagnose SMA after a child presents muscle weakness and decreased muscle tone.

Some specific steps doctors can take in order to confirm the diagnosis are:

-Genetic blood tests.

-Electromyography or EMG: measures the electrical activity of a muscle or a group of muscles (in some cases)

-Creatine kinase (CPK) test (to distinguish from other types of neuromuscular diseases if necessary)

This disease is characterized by weakness and atrophy predominating in proximal limb muscles, and phenotype is classified into four grades of severity (SMA I, SMAII, SMAIII, SMA IV) based on the age of onset and motor function achieved:

Types of Spinal Muscular Atrophy:

SMA type 1 (Werdnig-Hoffmann disease) is the most severe and common type, which accounts for about 50% of patients diagnosed with SMA.

SMA type II is characterized by onset between 7 and 18 months of age. Patients achieve the ability to sit unsupported and some of them are able to acquire a standing position, but they do not acquire the ability to walk independently.

SMA type III (Kugelberg-Welander disease) includes clinically heterogeneous patients. They typically reach independent walking, however, during infancy, they develop proximal muscular weakness.

SMA type IV: This group includes patients who are able to walk in adulthood and without respiratory and nutritional problems


Get To Know: Aaron Warren!


A: So my name is Aaron Warren, I am 23 years old and I live in the state of Tennessee!

My diagnosis is Spinal Muscular Atrophy or SMA for short. SMA is a neuromuscular disorder that progresses as I get older! Basically, it causes my muscles to deteriorate over time. But luckily there are brand new medications available now that stop the progression of the disorder altogether! Yay for science!






M: What is your goal/one of your goals?

A: As cliche as this sounds, one of my main goals in life is to literally just do whatever it is that I can to help make the world a better place. And to help change how individuals think about disability

M: What is in your opinion, your best quality?

A: My best quality would probably be that I’m an overachiever. I strive to be the best that I can at anything I do but sometimes that can be a curse as well lol

M: Who do you look up to the most?

A: The person I look up to the most would be my mom. She’s the most kind-hearted person I have ever met in my life. And has influenced me a lot in how I am today

M: What is a quote/idea that motivates you and inspires you?

A: My most fav quote is “live today like tomorrow is your last”

M: Tell me about something you really love (an activity, a book, a movie...)

A: Something I love is adventures! I absolutely love seeing new things, meeting new people, and trying new things!

M: What are the biggest challenges you face?

A: My biggest challenges I’ve always faced have not necessarily been the disease itself but more of a lack of accessibility in the world around me. And constantly dealing with the endless amounts of stigmas/stereotypes that surround disability

M: Tell me about something you’re proud of!

A: I’m extremely proud of having my very own place! And having my job!

M: What is your favorite moment of your daily routine?

A: My favorite part of my daily routine would be my coffee!! Haha, I absolutely love my coffee!

M: Like I said, this organization’s goal is for everyone to feel included, safe, comfortable, but our main audience or focus is young adults with physical disabilities. So, What advice or message would you give to them?

A: My message to them would be: always—no matter what—follow your dreams and never let anyone or anything stop you:)

My message to the world would be: treat disabled people as you would anybody else. A disabled person's life may seem complex, and different at first glance but the more you learn, the more you’ll realize that it’s actually not all that different at all!

Follow Aaron on Instagram to get to know him better!

@AaronWarrenn

Works Cited:

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3860273/

https://ojrd.biomedcentral.com/articles/10.1186/1750-1172-6-71

https://www.nmd-journal.com/article/S0960-8966(17)31284-1/pdf

https://www.childrenshospital.org/conditions-and-treatments/conditions/s/spinal-muscular-atrophy-sma/diagnosis-and-treatment



37 views0 comments

Recent Posts

See All