Andermann syndrome

Andermann syndrome affects the nerves used for muscle movement and sensations. Symptoms of this condition include abnormal or absent reflexes, low muscle tone, muscle wastage, progressive weakness, loss of sensation in the limbs, scoliosis and tremors. Brain abnormalities are alaso common, which can cause intellectual disability and seizures. Children affected with Andermann syndrome often start to lose their ability to walk by their teenage years and unfortunately, life expectancy is reduced.

Quick facts about Andermann syndrome
Genes: SLC12A6
Relevant resources for Andermann syndrome

A quick genetics rundown

As humans we have about 23,000 genes. These genes are like tiny instruction manuals that influence our health, growth and development. We inherit half of our genes from our biological mum and the other half from our biological dad. These genes are lined up on structures called chromosomes. Most of us have 23 pairs of chromosomes. The first 22 pairs are called autosomes and for the most part - these are the same among men and women. The 23rd pair determine our sex - two X chromosomes for a female and one X and one Y chromosome for males.

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How is Andermann syndrome inherited?

What is carrier screening?

Carrier testing is like a checkup for your genes. It tests to see if you carry a gene variation that could cause a serious genetic disease in your child. Eugene offers an inclusive genetic carrier screening panel that includes Andermann syndrome, but there's a total 301 conditions that can be tested.

Eugene’s carrier test is a clinical grade test that can be done from the comfort of your own home — it’s just a saliva test. You're also paired with a genetic counsellor who provides mindful support and guidance every step of the way.

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Should parents screen for Andermann syndrome before or early in pregnancy?

The biggest benefit of screening for Andermann syndrome is that it can help future parents understand their reproductive risk so they can be ready and empowered to make more informed decisions. If neither partner are carriers, it provides reassurance and peace of mind that the risk of having a child with a genetic disease is low.

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