Inherited motor neurone disease (MND)

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  This is a summary of independent research funded by the Motor Neurone Disease Association. The views expressed are those of the authors, and not necessarily those of the Motor Neurone Disease Association.

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Sarah: My father had MND 32 years ago, and as he was the only member of the family – to our knowledge – to have had it, because lots of other members of the family died from cancer, there was no suggestion that his was inherited. And at the time, there was not much information he was getting, so it didn’t occur to us until my weakness started developing.

Paul: I don’t feel any need to know whether I have the gene or not, because if I have the gene there’s only, it doesn’t predetermine development of the disease, or if it does we don’t know when, so I will be putting myself under an unnecessary cloud.

Maggie: Once you know, you can’t unknow. So, I thought, “No, I’ll leave it”. But then as time went on I was thinking, “Oh if I haven’t got it why am I worrying?” and if I’ve managed to convince myself several times that I have got it, I might be convincing myself unnecessarily.

Kirsty: Then when my mum went for her, she had her first genetic counselling session before being tested, that was actually quite helpful. That was really helpful not just, I think it was for her, but it was also for me as well because they talked about me and about my sister and about having children and testing possibilities and all that sort of stuff.

Harriet: There are targeted therapies that are happening right now in trials on my specific mutation, which is amazing. So I’m not hugely worried for my future because of that and what they are doing and what could still happen in the next 20 years.

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In this section you can find out about the experiences of families living with inherited forms of motor neurone disease (MND). MND is also known as motor neuron disease, amyotrophic lateral sclerosis (ALS) or Lou Gehrig’s disease. We interviewed 35 people from across the UK, including people living with inherited MND, family members with an increased risk of developing symptoms, and partners and family caregivers. We interviewed people in their own homes and online (due to the Covid-19 pandemic).

MND is a condition that affects the motor neurons, nerves that send signals to the muscles to make them move. MND affects people differently but can lead to weakness and wasting of muscles. This can cause loss of mobility in the limbs, and difficulties with speech, swallowing and eventually breathing. In a minority of people, the disease is caused by a single genetic variant that can be passed down in families. We refer to this as inherited MND, but it is sometimes called familial ALS.

Clinicians are not able to tell whether a person has an inherited form of MND from symptoms alone, but in some people it is possible to identify a particular genetic variant responsible for the disease. However, it is not always possible to find the cause of the disease, even in people with a strong family history, because not all of the genes linked to inherited MND have been identified to date. Sometimes family members without symptoms can have pre-symptomatic genetic testing to see if they carry the genetic variant that has been identified in an affected relative. Carrying a genetic variant linked to inherited MND does not necessarily mean a person will develop the disease in their lifetime.

This section focuses on the issues, considerations and decisions unique to people with inherited forms of MND, for example how people find out about inherited MND in the family, choices around having genetic testing (or not), having children, and communicating about genetic risk within families.

You can start viewing topics by selecting from the list on the left. Here you can also find links to people’s profiles to hear more about their individual experiences, and a glossary with key terms. We hope you find the information helpful and informative.

You may also be interested in our section on MND which focuses on experiences of living with MND generally, including diagnosis, treatment, impact on life and caregiving.