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TABLE OF CONTENTS:
TABLE OF CONTENTS……………………………………………………………………………………………………………………. 1
INTRODUCTION…………………………………………………………………………………………………………………………….2
MACHADO-JOSEPH DISEASE – DESCRIPTION……………………………………………………………………………………… 2
TYPES OF MACHADO-JOSEPH DISEASE……………………………………………………………………………………………… 3
CAUSES………………………………………………………………………………………………………………………………………4
DIAGNOSES………………………………………………………………………………………………………………………………….4
TREATMENTS……………………………………………………………………………………………………………………………….4
MACHADO-JOSEPH DISEASE AFFECTING ABORIGINAL AND INDIGENOUS PEOPLE…………………………………………5
THE MACHADO-JOSEPH DISEASE FOUNDATION……………………………………………………………………………………6
THE MACHADO-JOSEPH DISEASE STATISTICS……………………………………………………………………………………….7
CONCLUSION………………………………………………………………………………………………………………………………..10
REFERENCES (ESSAY)……………………………………………………………………………………………………………………..10
REFERENCES (BROCHURE)……………………………………………………………………………………………………………….

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INTRODUCTION
Machado-Joseph illness (MJD) — additionally called spinocerebellar ataxia Compose 3 (SCA3) — is one of the 30 most overwhelming form of ataxia, which is a general term used for absence of muscle control or coordination (NIH, 2018). According to current research, there are more than 500 people in the communities around Arnhem Land and Kakadu are at risk of developing Machado-Joseph Disease (Coggan, 2014). The MJD foundation has data which shows that the rate of this disease within Northern Territory Aboriginals is almost the highest in the world (MJDF, 2018). The Machado-Joseph Disease Foundation works for helping the Aboriginal and indigenous sufferers across Australia. This essay will talk about the causes, symptoms, treatments, and different foundations that are helping to help the sufferers of Machado Joseph Disease.
MACHADO JOSEPH DISEASE – DESCRIPTION
Machado-Joseph disease is a hereditary neurodegenerative disease which has been proliferating in the last few years. People with this disease suffer from loss of muscle function over time. It causes degeneration of the cells in the hindbrain which leads to impaired coordination of movement (NORD, 2018). MJD (Machado Joseph Disease) belongs to a group of genetic diseases knows as extended repeat diseases. These diseases have long repetitions of three letters of DNA coding (NIH, 2018). According to the National Institute of Neurological disorders and strokes, 2018, this disease is inherited in an autosomal dominant pattern, which means that the affected person will have only one allele with MJD. The child of the affected parents will have a 50% chance of developing this disease and 25% chance for those whose grandparents were affected. In a case, that the child not inherit the affected allele then, he or she won’t develop this disease and thus, won’t pass it on to the next generation. This is known as the anticipation effect.

TYPES OF MACHADO – JOSEPH DISEASE
All people affected with MJD have the same kind of gene mutation which is DNA repeat extension in the ATXN3 gene, but the occurrence of various types of symptoms in different people with same gene mutation led to a conclusion of dividing the disease into different kinds. The main three types of Machado Joseph Disease are:
• Type I MJD
• Type 2 MJD
• Type 3 MJD
Thus, these three types of MJD are characterized by different symptoms.
• Machado-Joseph Disease – Type 1
This type of MJD is characterized by the onset between 10-30 years of age. It has faster progression, and it includes weakness in arms and legs (dystonia) and rigidity more than ataxia and possible damage to muscles that control the eye movement. But, a person’s mental alertness and intellectual capabilities remain unaffected (NIH, 2018). This type is more commonly found between the ages 10-30 years. The progression of disease is faster. It is characterised by dystonia and rigidity which is more pronounced than ataxia. It can also involve muscle controlling the eye movement (NORD, 2018).
• Machado-joseph Disease – Type 2
This type of MJD has an intermediate rate of progression and occurs between the ages of 20-50 years of age. The symptoms include prominent ataxia and spastic gait (NIH, 2018)
• Machado-Joseph Disease – Type 3
This type has the latest onset of disease (40-70 years of age). Its characteristic symptoms is the damage of peripheral nerves which eventually results in the loss of sensation and muscle loss (NIH, 2018).

CAUSES
The leading cause of MJD is said to be the mutation in the ATXN3 gene, although, the primary disease mechanism is still unclear. In Machado-Joseph Disease, the DNA contains repetition of CAG trinucleotide. Thus, the mutation in this results in an abnormal ataxin-3 protein which produces toxin aggregates in the brain (Amorim, 2015). and thus results in loss of function by the brain.

DIAGNOSIS
This disease is generally diagnosed by the physician. One of the important aspect of assessment and diagnosis involves a detailed family history. It is important to know the symptoms of family members who is been diagnosed with MJD. This could give a brief idea about the type MJD, onset and progression as genetic plays a crucial role. Genetic testing also known as Presymptomatic Testing, is one of the most definitive diagnoses which indicates whether the affected allele is present or not. Researchers also suggest that, electrooculogram may also be useful for the early detection of MJD (Omim.org, 2018). Whether to undergo the testing or not, is a highly personal decision. Individuals who have at least one member from the family who were diagnosed with MJD, are strongly recommended to consider genetic counselling. (NIH, 2018).

TREATMENTS
There is no definite treatment protocol for MJD. Only symptomatic relief is given to the patient suffering from MJD. Symptoms such as rigidity which is also found in Parkinson patient can be treated by giving Levodopa. Spasticity can be reduced using antispasmodic drugs. Speech therapist can be consulted for patient suffering from dysphasia. There are researches going on and carried out to find a cure for this treatment. There was a research and trial conducted last year for finding cure of this disease. Some of the trials were conducted on Zebrafish as they suggest that they have almost 70% genes as same as that of humans

MACHADO-JOSEPH DISEASE AFFECTING ABORIGINALS AND INDIGENOUS PEOPLE
Machado-Joseph Disease was thought to be found originally in the people of Groote Eylandt and neighbouring families, but now it has been diagnosed in 12 other remote communities of Northern Territory (Westbury, 2018)
The people of this community have been suffering from this disease for four generations. One of the possible cause of development of this disease is said to be magnesium poisoning due to the presence of BHP mine on the island. Victims become wheelchair-bound and dependent for activities of daily living within 10-15 years of symptoms arising (M.P., 2016).
A question that occurs is that how did this disease get into Australian communities?
The answer to this question can be explained by the research evidence that, the traders from Macassan islands visited Australia to collect trepang (sea cucumber). It is believed that they used to camp up at the local coast of the island for about 6 months in a year. They had sexual relations with native women, who possibly went back with the traders. Thus, this is how this disease has been developed in Australia and especially in the Northern Territories.
There has been rise in the cases of MJD in Groote Eylandt. This is the result of isolation of community, which is effecting the prevalence of the gene in the local population.

THE MACHADO-JOSEPH DISEASE FOUNDATION
The MJDF (Machado-Joseph Disease Foundation), works in accordance with Aboriginal community and helps the people with Machado-joseph disease to support them live through the disease (MJDF, 2018). They are also an active part in the researches that takes place about this disease. Their main goal is to have a future free from Machado-Joseph Disease.
It is a not for profit organization established in 2008, to help the people suffering from MJD. They started off in Groote Eylandt and now have expanded to Northern Territory and Queensland. These people organize different events and programs to promote the education on MJD. The foundation works and helps in various ways. They have been an active organisation and has been carrying out or at least helping in carrying research programmes to eliminate/cure the disease
Some of their researches include Sleep studies, DNA Haplotyping, Speech and swallowing research, and Urinary incontinence research.
They have carers, who takes care of the sufferers. Recently, this foundation have released their strategic plan and took a step ahead in helping the indigenous and aboriginal people suffering from MJD. They have built strategies and measures in five different sectors such as research, education, community services, advocacy and governance.

? Gayangwa Lalara is a 73-year-old, Anindilyakwa woman of Groote Eylandt. She has been suffering from MJD for almost all her life. Her father was diagnosed with MJD at an older age. She has 6 siblings, and all of them have been diagnosed with MJD. Gayangwa has nieces, nephews and grandchildren who are suffering from this disease. She has been primary caregiver of her younger siblings for almost 15 years now. Gayangwa has seen different sides of this disease and she has shared her experience with MJD Foundation. Her “quite dignity and perseverance” is inspirational to a lot of people (MJDF, 2018).

MACHADO-JOSEPH DISEASE’ STATISTICS:
The prevalence of MJD around the world is 0.63: 100 000 (MJDF, 2018)
Machado-Joseph disease was first diagnosed in the people of Arnhem Land and Kakadu. More than 500 people are at risk of developing Machado-Joseph disease according to the current statistics. The symptoms are first diagnosed in their 30s or 40s. It is also suggested that this disease is 100 times more prevalent in the affected Aboriginal communities as compared to the rest of the world. Total of 70 descendants of the affected population are at risk of developing MJD. When the foundation was found in 2008, there were just 18 aboriginal people with the disease, now there are 97 people suffering with MJD. (Westbury, 2018). In the affected community, about 90 people are diagnosed with the disease or symptoms (Coggan, 2014). According to MJDF, Australia currently has no specific program funding or support for the people suffering from Machado-Joseph Disease. Northern territory has the highest number of the most severe type of MJD. Along the region of Groote Eylandt, roughly 654 residents are at risk of developing of this disease. The lifespan of the people diagnosed with MJD is about 20 years from the day of onset of the symptoms. According to the Machado-Joseph disease foundation, even younger people are diagnosed with this disease. In the year 2015, and the year before that, two 21 year old died due to this disease. The MJDF (Machado-joseph disease foundation), according to their survey, roughly 70% of people who are suffering with MJD suffer from clinical depression.
Groote Eylandt has the highest number of sufferers due to the present manganese mine of BHP. It contributes to 15% of the total sufferers of Australia.
The number of MJD sufferers are higher in: Portugal (49%), China (49%), Brazil (44%), Netherlands (44%), Japan (43%), and Germany (42%).
Their relative frequency is low in: France (33%), United States (21%) and Australia (12%).
It is rare in: United Kingdom (5%), India (3%) and Italy (1%).
The following graph shows the worldwide prevalence per 100 000:
Worldwide Prevalence 0.63: 100 000
India 0.15: 100 000
Germany 1.70: 100 000
Portugal 3.10: 100 000
Japan 1.50: 100 000
Brazil 3.00: 100 000
North East England 8.00: 100 000
Azores 43.00: 100 000
Northern Territory Aboriginal 66.00: 100 000

The above table from the MJDF, 2018, proves that the Northern Territory aboriginal communities have the highest prevalence of the MJD in the world.

The following table represents the statistics of the current number of indigenous Australians with MJD, according to the Machado-Joseph disease foundation.

Location Symptomatic or positive risk Monitored* At risk^
Groote Eylandt 11 19 163
Yirrakala 3 14 107
Elcho Island 3 15 139
Ngukurr 7 11 91
Central Australia 5 2 97
Oenpell 3 1 6
Nth Qld 4 1 21
46 63 624
(MJDF, 2018)
*In the above column, monitored are the people whose symptoms are reported and they are being monitored by the foundation. They have found that 80% of those people are suffering from MJD.

^”At risk” are those people who are alive and those who have 50% chance of developing MJD.

CONCLUSION
I have now discussed the types of Machado-Joseph Disease, causes, diagnosis, treatments, prevalence and the current statistics of the disease. As it can be seen from the discussion that, even though research is going on at the moment on the cure for MJD, there is no known cure found till the date. The disease was brought into the Aboriginal communities through the Macassan traders and have been into those communities from four generations. There are still many people suffering from MJD in the Northern Territory and Queensland. Yet, there has not been much support from the government to help those sufferers. As discussed above, according to the current statistics, Northern Territory has the highest number of the sufferers yet, there are many people at risk of developing this disease even after the great support by the Machado-Joseph Disease foundation.

References of essay:
1. Amorim, C. (2015, December 01). Treating Machado Joseph Disease; a new approach to an old problem. Retrieved from https://medicalxpress.com/news/2015-12-machado-joseph-disease-approach-problem.html

2. C. L., Kniffin. (n.d.). MACHADO-JOSEPH DISEASE; MJD. Retrieved March 31, 2016, from https://www.omim.org/entry/109150

3. Coggan, Michael. 2014. “Rare Machado-Joseph Degenerative Brain Disease on the Rise in Northern Territory Aboriginal Communities.” ABC Premium News, Apr 21. http://libproxy.murdoch.edu.au/login?url=https://search-proquest-com.libproxy.murdoch.edu.au/docview/1517905742?accountid=12629

4. Coggan, M. (2014, April 22). Prevalence of rare brain disease increasing in NT Aboriginal communities. Retrieved from http://www.abc.net.au/news/2014-04-21/prevalence-of-rare-brain-disease-increasing-in-nt-communities/5401948

5. M. (n.d.). Submissions – Disability Care and Support Productivity … Retrieved from http://www.pc.gov.au/inquiries/completed/disability-support/submissions

6. M. P. (2016, November 13). Paralysis island: ‘slowly the disease kills them’. Retrieved from https://www.news.com.au/lifestyle/health/health-problems/paralysis-island-slowly-the-disease-kills-them/news-story/eef6442708a22ab359715507cad94aea

7. MJD Foundation. (n.d.). Retrieved from http://mjd.org.au/

8. Machado-Joseph Disease – NORD (National Organization for Rare Disorders). (2018). Retrieved from https://rarediseases.org/rare-diseases/machado-joseph-disease/

9. Machado-Joseph Disease Fact Sheet. (2010, February). Retrieved July 06, 2018, from https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Machado-Joseph-Disease-Fact-Sheet#3163_3

10. Machado Joseph disease: Help needed: An organization set up to help Aboriginal people suffering the effects of a debilitating genetic disease has renewed a plea to the Federal Government to consider cancelling a funding grant. (2014, April 21). Retrieved from https://search-informit-com-au.libproxy.murdoch.edu.au/documentSummary;dn=TSM201404210124;res=TVNEWS

11. R. M. (2016, July 13). The ‘Bird People’ of Groote Eylandt. Retrieved from https://quadrant.org.au/opinion/qed/2016/07/bird-people-groote-eylandt/

12. Westbury, N. (2018). Machado Joseph disease is devastating families in the Northern Territory’s remote communities. Retrieved from https://www.smh.com.au/opinion/machado-joseph-disease-is-devastating-families-in-the-northern-territorys-remote-communities-20151104-gkqhai.html

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