Spinal Muscular Atrophy is a rare inherited genetic muscle wasting disease that is characterised by a loss of nerve cells called motor neurons. The affected muscles not only include the muscles you see like your arms and legs, but all your internal muscles like breathing, coughing and swallowing. The loss of motor neurons leads to the progressive muscle weakness and wasting. The weakening of the respiratory muscles can lead to an increased tendency for pneumonia and other lung problems.
Spinal Muscular Atrophy is caused by an altered gene that does not function the way it should. Spinal Muscular Atrophy is passed on by what is known as autosomal recessive inheritance and for an individual to be affected with SMA; they need to have inherited an altered gene from both their parents.
One person in thirty-five unknowingly carries this gene. If a couple already has a child with the disease, each of their subsequent children has a one in four chance of inheriting Spinal Muscular Atrophy.
Approximately 630 people die of Spinal Muscular Atrophy and related syndromes including motor neuron disease every year in Australia (ABS) 2008 and this disease is the biggest killer of babies under 2 years of age.