Familial MND and Genetic Testing

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Motor Neurone Disease (MND) AustraliaMay 2023

This resource has been published by Motor Neurone Disease (MND) Australia, a Partner, and is hosted on an external website. Ausmed is not responsible for the content or advertising you may see.

This resource provides information on familial motor neuron disease and some of the challenges that may arise with genetic testing for the condition.

What you should know
  • About 10% of MND is ‘familial’, which means there is or has been more than one MND affected person in a family.
  • Learning about the genetics of MND, genetic testing, gene mutations, clinical trials and other MND research can help to better inform people affected by familial MND.
  • Understanding of the genetic mutations related to MND has increased over time, and is accelerating due to advances in technology and collaboration between researchers.
  • In Australia, recent research has found that the C9orf72, SOD1 and other MND-related gene mutations are present in 60.8% of all people with familial MND.

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