SMA | spinal muscular atrophy
Episode description
Spinal Muscular Atrophy, or SMA, is a genetic disorder where nerve cells in the spinal cord die prematurely, and this causes the muscles that would normally be controlled by those nerves to atrophy. The most common subtype usually presents in the first 6 months of life with a hypotonic baby (and other lower motor neuron signs). Typically these children die before 2 years of age, mostly from respiratory failure. There are some new treatments being developed including one currently available on the PBS in Australia (nusinersen) that are dramatically altering disease course in some children.
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(This isn’t individual medical advice, please use your own clinical judgement and local guidelines when caring for your patients)