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SMA Australia

SMA AUSTRALIA

Phone: (03) 9796 5744

Spinal Muscular Atrophy (SMA) is a disease that deprives people of physical strength, by affecting the motor nerve cells in the spinal cord. This weakness not only affects muscles we see; like our arms and legs, but also internal muscles that we can’t see; including breathing, coughing and swallowing.

  • SMA is also known as the childhood version of Motor Neurone disease.
  • 1 in 35 people in Australia (mostly unknowingly) carry the faulty SMA gene. Being a carrier does not mean you are affected by the disease.
  • A person is born when BOTH parents are carriers of this gene, neither parent is to blame. There is a 1 in 4 chance of this couple having future babies with SMA.
  • One in 10,000 live births in Australia are affected by SMA.
  • 60-70% of all SMA patients have the most severe form (Type 1).
  • New genetic testing technology using saliva samples is now available Australia wide. The test costs $385 and is available through www.vcgs.org.au (this test screens for SMA, Cystic Fibrosis and Fragile X).
  • There is currently a genetic screening pilot program (called Mackenzie’s Mission) that will screen 10,000 couples before they get pregnant to screen for the top 500 genetic conditions. (This includes SMA).
  • There is no known cure for Spinal Muscular Atrophy but with recent drug advancements there are some new treatment options (Spinraza) for those affected under the age of 19 with Type 1, 2 and 3a covered by the PBS in Australia.
  • SMA is a physical disease only. People with SMA have reduced movement.
  • Babies (Type 1) don’t often reach milestones like sitting or rolling in early infancy, have hypertonia (weak muscles), progressive weakness and loss of motor function.
  • Babies born with SMA appear perfectly normal in every way except they are extremely weak. They are bright, alert, interested in people and what’s going on around them. They enjoy music and being played with – just like other babies.
  • Intelligence is unaffected. Many people with SMA have above average intelligence. Children go to main stream schools, adults work (ie: graphic design, lawyer) and even have children themselves.
  • People with SMA catch germs very easily so washing hands before having contact is very important. Avoid visits by anyone suffering a cough / cold or anything contagious, due to their weakened immune system.
  • People diagnosed with Type 2 and Type 3, have a good survival rate, but mobility and dexterity are compromised. Most sufferers are wheelchair bound by early childhood. With some requiring steel rods in their back to allow them to sit upright and prevent scoliosis. All sufferers require assistance with activities of daily living such as grooming and feeding etc.
  • Around 630 people die from Motor Neurone disease every year in Australia. (ABS)

This Fact Sheet was prepared by the Spinal Muscular Atrophy Association of Australia Inc.

pdfClick Here to download the Fact Sheet