Dozens of residents on Groote Eylandt, about 30 miles from the Northern Territory, Australia have been infected with an unknown disease that causes a slow and painful death. For years, the aboriginal people thought they were cursed but doctors have discovered many were infected with Machado-Joseph Disease (MJD). Northern Territory has the “highest concentration” and most severe strain of MJD in the world, researchers have said. The disease causes progressive muscle weakness and also affects walking, talking, eating and going to the toilet.
However, there is currently no cure for the illness.
MJD is a hereditary neurodegenerative condition passed down in the genes due to a fault in a chromosome, producing an abnormal protein.
This causes nerve cells in the brain to die quickly causing a lack of muscle control.
Later stages of the illness will leave the person completely paralysed, often referred to as “locked syndrome” where the person cannot move or talk but still remains fully alert.
An estimated 654 residents, most of who live on the island, are at risk of developing the disease and more than 100 currently show symptoms.
One resident Gayangwa Lalara, who is in her 70s and has MJD, initially thought she was cursed.
Her father and all her six brothers and sisters also have MJD, as well as her nieces and nephews – and one died from the illness.
She told The Australian: “They used to say it was a curse but it was inside us all along.”
According to research, the disease is affecting younger people much more quickly than before.
Libby Massey, MJD Foundation director of research and education said: “Every time someone with MJD has a child, that risk is there. The numbers will continue to grow, there’s no two ways about it.”
Associate professor John MacMillan, a Brisbane-based geneticist with the foundation said that remote Aboriginal communities can promote the spread of the disease because of their small genetic pool.
He told Australia broadcaster ABC news in 2014: “The combination of geographic isolation, language isolation, cultural and social isolation, when you add them all together will often result in very high frequencies of specific diseases in some specific areas.”
Scientists continue to test out drugs in hopes to find a cure to the disease.
Researchers are carrying out further studies on Zebrafish, which are known to carry the faulty chromosome that causes MJD in humans.