Although there are different types of SMA according to the age of onset and severity, SMA affects most all physical movement including walking, sitting without assistance, swallowing, and breathing.

The disease is characterized by a progressive weakening and shrinking of the muscles. The muscles closest to the center of the body (shoulders, hips and back) are usually the first and most severely affected. In most cases, the disease is diagnosed before age 2.

Symptoms vary from mild to severe in the different SMA types (from 1 to 4), and they are based on how much SMN protein there is in the motor neurons.

The more SMN protein exists, the later the symptoms will begin and the milder the evolution of the disease will be3.

Most of the people with SMA will have to a lesser or greater extent:

Because SMA types 1, 2, 3, and 4 are inherited in an autosomal recessive pattern in families, a person with SMA inherits two mutated copies of the SMN1 gene from his or her parents. The parents of a person with SMA are carriers of one copy of the altered gene, but because they also carry a normal version of the gene they do not have signs or symptoms of SMA.

Finkel type SMA is an autosomal dominant pattern. This means that the person has one copy of the altered gene in each cell2.

Read the latest news about SMA Symptoms at SMA News Today.

Follow the latest developments for all experimental Spinal Muscular Atrophy treatments on the SMA Therapy Tracker.

SMA News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website.

________________________________

  1. http://www.nhs.uk/Conditions/Spinal-muscular-atrophy/Pages/Symptoms.aspx
  2. https://www.genome.gov/20519681/learning-about-spinal-muscular-atrophy/
  3. https://www.mda.org/disease/spinal-muscular-atrophy/signs-and-symptoms