MJD Foundation

What is MJD?

Machado Joseph Disease | MJD and Arnhem Land

Machado-Joseph Disease

Download our Frequently Asked Questions document

Genetics in Primary Health Care

Machado-Joseph Disease (MJD) is an hereditary neuro degenerative condition.  It is in a ‘family’ of neurodegenerative diseases that includes Huntington’s Disease.  

MJD occurs because of a fault in a chromosome that results in the production of an abnormal protein.  This protein causes nerve cells to die prematurely in a part of the brain called the cerebellum.  The damage to the cerebellum initially causes muscular weakness and progresses over time to a total lack of voluntary control and very significant permanent physical disability.

This Genetics in Primary Health Care presentation provides an overview of genetics.

What is MJD

MJD is an inherited, autosomal dominant disorder, meaning that each child of a person who carries the defective gene has a 50% chance of developing the disease.  In addition the mutation is typically expanded when it is passed to the next generation (known as an ‘anticipation effect) this means that symptoms of the disease appear around 8-10 years earlier and are more severe. 

There is no known cure for MJD.  Progression to dependence occurs over 5 to 10 years and most people are wheelchair bound and fully dependent for activities of daily living within 10-15 years of the first symptoms emerging.

View this presentation on MJD

Clinical Approach

"MJD Clinical Approach" was produced to provide clinical education on Machado-Joseph Disease to health professionals.

The opening sequence is a powerful way to learn firsthand about symptoms of MJD from a person living with MJD.

Hear from doctors, nurses, physiotherapists, occupational therapists, psychologists and community workers who have extensive experience working alongside people with MJD.

And gain some understanding from people living with MJD throughout the production who describe symptoms ranging from ataxia and vision disturbances through to fatigue and sleep issues.

You can view the video in full or download it for free - https://vimeo.com/131961819


This eLearning module developed by MJDF in partnership with RAHC provides a free resource (CPD accredited) for health professionals to learn about the management of symptoms of MJD.

The e-Learning module (which takes around 2-3 hours to complete) covers aspects of Machado Joseph Disease such as genetic features and prevalence, along with symptom management such as incontinence, mobility issues, speech/swallowing difficulty, sleep disturbances, muscle cramping and pain, and social & emotional wellbeing.

Go to www.rahc.com.au/elearning

MJD, Arnhem Land and beyond

MapPreviously known as “Groote Eylandt Syndrome”, the effects of MJD have been known to the Aboriginal people of this region for at least four generations.

Following the discovery of the gene for MJD, “Groote Eylandt Syndrome” was confirmed as MJD in 1995 and there are people living with the disease on Groote Eylandt (Angurugu and Umbakumba), Bickerton Island (Milyakburra), Yirrkala, Elcho Island (Galiwin'ku), Darwin, Ngukurr, Birany Birany, Numbulwar, Papunya, Hermannsburg, Santa Teresa (near Alice Springs) and Gunbalanya (Oenpelli).

Spread of the disease to Arnhem Land had previously (before Feb 2012) been attributed to the 16th Century trading and exploration activities of Portuguese Sailors.  Entry into the Australian population is thought to have been through trading relationships between the Aboriginal people of Arnhem Land and the Macassan people of Indonesia, who in turn traded with the Portuguese.  However in February 2012, research was published which effectively rules out a Portuguese link, and instead points to a direct Asian link based on an international DNA Haplotyping study. =>Download the paper here.

Although it is impossible to predict the number of people who will develop MJD there are currently around 650 people alive today thought to be “at risk” of developing the disease across the top end.  
(At risk individuals are direct descendents of those with the disease).