Including You – What Is Spinal Muscular Atrophy (SMA)?

(U.S.) – If your child does not have SMA, odds are they are bound to encounter someone with who does at some point in their lives.

Including you is brought to you by the Tuscarawas County Board of Developmental Disabilities

August is recognized as Spinal Muscular Atrophy Awareness Month in hopes of sharing more information about the illness to the public.

What is it?

SMA is a disease of the central nervous system. It is known as a neuromuscular disease because it originates in the central nervous system and affects the motor neurons that power the muscles in the body. People with SMA typically experience a decline in muscle strength over time due to the degenerative nature of the disease. The rate and severity of the illness can vary from person-to-person.

What causes it?

SMA is caused by a survival motor neuron (SMN) protein deficiency. Experts explain that everyone has two survival motor neuron genes. These genes, called SMN1 and SMN2, produce survival motor neuron protein, which is critical for proper body movement. Without SMN protein, motor neurons die off and muscles get weaker and weaker.

Who is affected?

SMA can affect people of all ages and backgrounds. SMA causes many physical symptoms that can become increasingly disabling with age. Symptoms vary among the three SMA type and may include progressive muscle weakness and atrophy.

Early-Onset SMA (Type 1) occurs before 6 months of age and creates a life expectancy of fewer than 2 years without permanent ventilation and nutritional intervention.

Later-Onset SMA (Type 2) occurs between 6-18 months of age and the life span varies depending on severity. Individuals are able to sit independently but are not able to walk.

Later Onset SMA (Type 3) occurs in individuals older than 18 months of age. Individuals can live a normal life span. They can stand and walk independently but may eventually lose that ability over time.

SMA is a genetic disease. This means that someone is at risk of developing SMA if they inherit two mutated or deleted SMN1 genes, one from each parent.

Can it be detected?

Yes, SMA is identifiable. Experts explain that genetic testing is an important first step in accurately diagnosing rare diseases like SMA. In cases where a family history of SMA exists or individuals present with symptoms of SMA, genetic testing can help to confirm the diagnosis.

This information is courtesy of Spinraza and is in no way an endorsement of the medication. 

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