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Spinal Muscular Atrophy – signs and symptoms

Be aware of the signs and symptoms of Spinal Muscular Atrophy in babiesAs an expectant parent, there is so much to be prepared for. Is the baby’s room ready? Will it be a girl or a boy? Have we bought everything we need?

These are just some of the innumerable, but normal, worries that all new and expecting parents can relate to. Something that many parents are often not prepared for, however, is having a child with a disability, or terminal illness.

As CEO of national patient organisation Spinal Muscular Atrophy (SMA) Australia, I hear firsthand every day, the concerns of parents who are dealing with a condition many had never heard before diagnosis, let alone known how to manage it after diagnosis. SMA is the leading genetic cause of death in children under two years of age in Australia* – therefore it’s vital new and expectant parents know what to look for.

SMA is an inherited, genetic muscle-wasting disease. It’s the childhood version of Motor Neurone Disease. One in 35 Australians unknowingly carries the SMA gene, and one in 10,000 live births in Australia are affected by SMA.**

SMA not only wastes the muscles in the arms and legs, but it also wastes the muscles used for coughing, swallowing and breathing. Babies with SMA often do not reach milestones like sitting or rolling.***

Hence, it is vital that new parents know the signs and symptoms, so that SMA can be detected and diagnosed as early as possible.

Signs and symptoms of Spinal Muscular Atrophy

  • Muscle weakness, poor muscle tone and “floppiness” (also known as hypertonia). The legs are usually weaker than the arms. We often hear families refer that their babies are like ‘wet noodles’ that just slip through their grip.**
  • Poor head control.**
  • Progressive weakness of muscles used to chew and swallow.**
  • Weak cough and weakened cry.**
  • Children who are affected are late to achieve, or do not reach, milestones such as sitting, crawling or walking.**
  • “Frog-leg” posture when lying or sitting.**

We often hear that parents thought there was something wrong, but were told repeatedly not to worry, the baby may just be “lazy”.

By knowing the signs and symptoms, and using your instincts, this could lead to an earlier diagnosis, and earlier intervention. If you are unsure, always seek a second opinion, given the rarity of SMA. By becoming aware of the signs and symptoms, at an earlier stage, it could greatly assist with diagnosis and management.

There are several types of SMA (type I, II, III, and IV), each determined by the age of onset and the physical milestones achieved – ranging from those diagnosed before six months of age who have a life expectancy of under two years, to those diagnosed in adulthood.****

There are approximately 25.5 to 30.9 new cases of all types of SMA per year (estimates extrapolated from global incidence rates).*****

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For more information on Spinal Muscular Atrophy, please visit http://smaaustralia.org.au

* Rossoll W et al. Spinal Muscular Atrophy and a Model for Survival of Motor Neuron Protein Function in Axonal Ribonucleoprotein Complexes. Results Probl Cell Differ. 2009; 48: 289–326. doi:10.1007/400_2009_4.
** SMA Australia. General SMA Information. [Online] Available at: https://smaaustralia.org.au/sma/general-sma-info/, last accessed 25 August 2017.
***National Institute of Health. SMN1 gene. [Online] Available at: https://ghr.nlm.nih.gov/gene/SMN1#conditions, last accessed 25 August 2017.
****Lin C-W et al. Delay in Diagnosis of Spinal Muscular Atrophy: A Systematic Literature Review. Pediatric Neurology 53 (2015) 293e300.
***** Data on File.

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