Spinal muscular atrophy (SMA) is a rare genetic disease that makes the muscles weaker and causes problems with movement. Individuals with SMA have difficulty performing basic functions of life, like breathing and swallowing. They also have difficulty sitting up straight, crawling and walking. Other symptoms include weak arms and legs, muscle tremors, and joint and bone problems. This condition gets worse over time, but there are treatments available to help manage the symptoms. It is important to note that SMA does not affect a person’s ability to think, to learn, or to build relationships.
“SMA is caused by a mutation in the survival motor neuron gene 1 (SMN1). In a healthy person, this gene produces a protein that is critical to the function of the nerves that control our muscles. Individuals with SMA don’t produce survival motor neuron (SMN) protein at high enough levels. Without this protein, those nerve cells cannot properly function and eventually die, leading to debilitating and sometimes fatal muscle weakness.” – curesma.org
Four primary types of SMA, based on the age of onset:
SMA Type 1 (Infantile-onset SMA or Werdnig-Hoffman Disease):
This is the most severe kind of SMA and strikes infants within the first 6 months of life. Some children with SMA type 1 will die before their second birthday, but aggressive therapy is improving the outlook for these children.
SMA Type 2 (Intermediate SMA):
When a child develops spinal muscular atrophy between six and 18 months, the condition is classified as type 2. The child may be able to sit up, but respiratory challenges can shorten their lives as the disease progresses.
SMA Type 3 (Juvenile SMA, Kugelberg Welander Syndrome):
Type 3 SMA emerges in children 18 months old or older and can become evident as late as in the teenage years. Muscle weakness is present, but most patients can walk and stand for limited periods, particularly early in the course of the illness.
SMA Type 4 (Adult SMA):
In some people, SMA develops in adulthood. Type 4 SMA is rarely severe enough to have impact on the patient’s lifespan.
SMA not linked to chromosome 5:
Some forms of SMA are not due to SMN1 gene mutations and SMN protein deficiency. These forms, including Kennedy’s disease, vary in severity, and some may involve muscles farther away from the center of the body than those associated with SMA types 1 through 4.
There is currently no cure for SMA and no medications for treatment. Symptoms are managed to improve quality of life which may include the use of a wheelchair, braces, and other support devices; assistance with ventilation; physical- and occupational therapy as well as rehabilitation.
August is SMA Awareness Month!
Wearing an Awareness Bracelet creates an opportunity to start a conversation and share information about a particular cause or disease. One conversation can have ripple effects and may ultimately improve early diagnosis, access to services, increase funding for research, and help reduce feelings of isolation as well as discrimination that so many individuals with rare diseases and special needs face on a daily basis.
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Raising SMA Awareness with Kerry Walsh
My name is Kerry Walsh, I was born on the 22nd of October 1997 in a set of fraternal twins. Around the age of one, my parents had realized that I wasn’t developing like my sister was. I was taken to the doctor where I was diagnosed with low muscle tone. We tried months of physical therapy but unfortunately, there was no improvement. I was then sent for a muscle biopsy in my neck. They discovered that I had SMA (Spinal Muscular Atrophy). I was given the life expectancy of 5 years old. My parents were told to take me home and enjoy the time we had… Continue reading.
*All information in this post is published for general information and educational purposes only. Arms of Mercy NPC and the armsofmercy.org.za website do not offer any diagnosis or treatment, and will not be held liable for any adverse health effects, losses and/or damages whatsoever. Any action you take as a result of the information is at your own risk, and does not replace the advice of a qualified medical practitioner. Always consult with your medical healthcare practitioner.