Spinal muscular atrophy, or SMA, is a nerve disease that’s caused by a gene mutation of the survival motor neuron gene 1 (SMN1). This gene mutation destroys the motor neurons (of the brain and spinal cord), which are responsible for muscle control and impair muscle movement, causing muscle weakness and loss of muscle movement throughout the body. While there are varying degrees of SMA, any impact to the motor neurons can greatly affect the ability to walk, crawl, sit up independently, and even breathe, eat, and swallow. The death of signalling from the affected motor neurons causes muscle atrophy in a similar manner to amyotrophic lateral sclerosis (ALS) or Lou Gehrig’s disease, another motor neuron disease that affects muscle movement. Both ALS and SMA are fatal diseases with no cure.

According to research from Counsyl.com, a genetic screening and counseling services company, approximately 1 in every 6,000 to 10,000 Americans are impacted by spinal muscular atrophy. SMA is also the leading genetic cause of death for infants Further statistics show that SMA is most prevalent in Caucasians. SMA can strike at birth or crop up in adulthood, if the patients carries a specific SMA gene mutation. Spinal muscular atrophy occurs in these main subtypes:

• Type 1 Chromosome 5 SMA, also known as Werdnig-Hoffman disease
• Type 2, or chronic infantile SMA
• Type 3, also known as Kugelberg-Welander disease, or SMN-related SMA, can present at birth, infancy, or in teen years.

As mentioned, the following early signs of SMA are very similar to ALS, as both diseases primarily impact overall muscle movement and control:

1. Troubles sitting up, walking, standing independently.
2. Early signs of compromised fetal movements are indicative of Type I SMA, and crop up during late pregnancy.
3. Lack of control in mouth and throat muscles, resulting in decreased swallowing, chewing, and eating abilities.
4. Spasms, twitches, or involuntary muscle contractions (called fasciculations).
5. Lack of reflexes, such as grasping, catching, or holding objects, or when tapped on knee by a doctor.
6. Gradual loss of muscle tone (or Hypotonia) and increasing muscle weakness.
7. Prone to respiratory respiratory infections, such as recurrent pneumonia.
8. Lack of strength and muscle movement throughout the body, typically beginning in the legs, arms, hips, thighs, shoulders, chest, and upper back, that may lead to orthopedic assisting tools (i.e., cane, walker, wheelchair).