Inherited MND

Inherited MND can happen when there is a change in a gene or genes that tell our bodies how to make or manage proteins in our bodies. A changed gene can be passed down from parent to child. Having a changed gene creates a higher risk of developing the condition, but does not mean you will definitely get MND.

Where there is no apparent family history, a diagnosis is known as sporadic MND. In these cases, changed genes may still play a small role in the condition, but other risk factors are thought to play a larger part.

Although inherited MND affects a low number of those diagnosed, it raises questions for blood relatives too. Genetic counselling is designed to help you work through these questions whether you have MND or you have found out that you have a family history of the condition.

See the next drop down option on this page about Genetic testing and genetic counselling.

Find out more in our booklet Inherited MND and genetic testing.

See our booklet Inherited MND and genetic testing to find out more about genetic counselling and the way that genetic testing works.

If you have MND

If you have a clinical diagnosis of MND and want to know more about possible genetic impact, ask your neurologist for advice and for referral to genetic counselling. Although sensitive to the emotions involved, this type of counselling is not psychological therapy. Instead, it helps work out if you may have a family history of the condition, what this really means and the risk to other blood relatives. 

Your genetic counsellor will also explain all of your options. One of these options is the choice of whether to have genetic testing or not. Following a clinical diagnosis of MND, the testing is called diagnostic genetic testing, which looks at your entire genome (all of your genetic material). Your genome can then be analysed for any known changed genes linked to MND.

If you do not have MND, but you have a family history of the condition

If you have a family history of MND and want to find out more, ask your GP to be referred to a genetic counsellor for guidance. It is essential to have genetic counselling before any genetic testing can take place. This counselling will look carefully at all of your options and how to approach these choices.  Choosing to be tested can be a difficult decision and affect wider family members too. 

In this case, genetic testing is called predictive genetic testing. It looks for a known changed gene that has already been identified in your family history.

A large number of genes that can play a part in MND have already been discovered. They can usually be identified through genetic testing, but results may not always be clear. A genetic counsellor can provide guidance that is tailored to your needs and family history of the condition.

To date, we know around 70% of the changed genes known to cause a family history of MND. The most common are:

• C9ORF72, discovered in 2011, which is responsible for around 4 in 10 cases 
• SOD1, discovered in 1993, which is responsible for 2 in 10 cases 
• TARDBP (TDP-43), discovered in 2008, which is responsible for up to 5 in 100 cases 
• FUS, discovered in 2009, which is responsible for up to 5 in 100 cases.

Other rare changed genes that can play a part in MND have been found and have advanced our understanding of the condition.

To read more news about research articles on genes involved in inherited MND, see our MND Research Blog. There you can find articles on discovery of other genes including NEK1, C21ORF2, TBK1 and TUBA4A.

The MND Register of England, Wales and Northern Ireland collects information about people living with MND. The information gathered in this database will help tell researchers more about possible causes of the disease and help improve care for people living with MND.

For example, the data will help work out the number of people diagnosed with MND each year, how many people currently have the disease and how this changes over time. Information such as gender and ethnicity can be used to look for characteristics of people more likely to develop MND.

Find out more on our page about the MND Register.

Scientists at the University of Oxford have set up Families for the Treatment of Hereditary MND (FaTHOM), which aims to bring together those who have a family history of MND to discuss the issues that can happen. You can find some of the earlier sessions at the University of Oxford website.