Explaining the Causes, Symptoms and Treatment for SMA

This animated video by Osmosis illustrates the neurons involved in the genetic disease spinal muscular atrophy (SMA) and how they affect the muscles of patients.

Read our 11 fast facts about spinal muscular atrophy.

The video explains that there are four different types of SMA with type 1 being the most severe. Some of the symptoms of the disease include scoliosis (curvature of the spine), breathing difficulties, lung infections, difficulties in swallowing and muscle wastage.

The faulty gene responsible for the disease is the survival motor neuron 2 gene (or SMN1) and both parents of the infant need to carry the faulty gene to be inherited.

Until recently the only treatment for SMA was palliative care, but a new drug called Nusinersen (or Spinraza) has been approved which helps the faulty SMN2 gene produce more SMN protein needed for muscle building.

Find out more about how Spinraza works for spinal muscular atrophy patients.

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 another 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.

 

 

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