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.
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.
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