Motor neurone diseases (MNDs) are a group of progressive neurological disorders that destroy motor neurones, the nerve cells that control essential voluntary muscle activity. An estimated 1,200 Australians are currently diagnosed with MND and about 400 new cases are reported annually.

MNDs occur in adults and children. In children, particularly in inherited or familial forms of the disease, symptoms can be present at birth or appear before the child learns to walk. In adults, MNDs occur more commonly in men than in women, with symptoms appearing after age 40.

There’s still no clear answer about the exact causes of the disease, as each person may be affected by a different combination of triggers, including through the inheritance of a mutated gene from a family member who has the condition (familial MND).

According to MND Australia, about 10% of MND are familial, meaning there is or has been more than one affected person in a family.

It’s also quite common for someone with MND to be the only person in their family with the disorder. These people are said to have what is known as “sporadic MND”.

However, while people who inherit an MND-related genetic mutation have an increased chance of developing MND, research has shown that not all of them will develop the disease.

Did you know?

– The age at which MND symptoms appears in the presence of genetic mutation varies greatly.
– Onset can be anywhere from birth to 80.
– The age of onset also varies considerably within a family.
– The average age of familial onset is around 45, whereas some genetic forms can occur from birth and is most often the first case in the family.
– A mutation is an error in the genetic code that causes the gene to work abnormally.
– Experts continue their quest to understand exactly how genetic faults cause MND.
– Research into ways of preventing and treating familial and sporadic MND is ongoing.

In the meantime, there have been some positive developments in the field of genetic testing.

Genetic testing

There are pros and cons to undergoing genetic testing for MND, and some surveys have shown a split in public opinion regarding whether to get tested or not.

Some respondents say that knowing their status will help them to plan for the long-term, while others are concerned that it may limit them with regards to relationships and career choices.

Ultimately, it comes down to individual choice. Should you decide to get yourself or a loved one tested, it’s worth keeping the following in mind:

– There’s no Medicare rebate for genetic testing.
– Some genetic services may provide subsidies for multiple gene testing.
– Testing has to be voluntary.
– All recipients must be 18 or older to give informed consent.
– All testing must include pre- and post-counselling services.
– The test is done on genetic material from a blood sample.
– The results are confidential, unless you instruct otherwise.
– The inheritance pattern can be different in different families.

Important contacts

To learn more about getting tested for MND-related gene mutations, you can contact any one of the following associations:

– AUSTRALIAN CAPITAL TERRITORY
Associate Genetic Counsellor
The Canberra Hospital
WODEN ACT 2606
Ph: (02) 6244 4042
Fax: (02) 6244 3834

– NEW SOUTH WALES
Department of Molecular and Clinical Genetics
Royal Prince Alfred Hospital Building 65, Level 6 Missenden Rd
CAMPERDOWN NSW 2050
Ph: (02) 9515 5080
Fax: (02) 9515 7595

– QUEENSLAND
Queensland Clinical Genetics Service
Royal Children’s Hospital and District Health Service
HERSTON QLD 4029
Ph: (07) 3253 1686
Fax: (07) 3253 1987

– SOUTH AUSTRALIA AND NORTHERN TERRITORY
South Australian Clinical Genetics Service
Women’s and Children’s Hospital
NORTH ADELAIDE SA 5006
Ph: (08) 8204 7375
Fax: (08) 8204 6088

REMEMBER: Genetic testing can only be done in a third of familial cases due to gene mutation, while some 97% of MND cases have no known genetic cause.

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