2025 MJD International research conference

Our Organisation  

The Machado-Joseph Disease Foundation (MJDF) is a grassroots community organisation. Our mission focuses on working in partnership with our clients, families and communities affected by MJD and SCA7.  

MJDF’s ‘Our Way’ approach is based on a strong Aboriginal Community Worker two-way engagement model.  As a well-established not for profit agency the MJD Foundation (MJDF) has extensive experience in working in partnership with sponsors and donors, and actively encourages individuals, businesses and industries in becoming supporters of this important and valuable service that is available to individuals and their families living with MJD and SCA7.  

What is MJD  

MJD is a hereditary (genetic) neurodegenerative condition. It is in a ‘family’ of neurodegenerative diseases called Spinocerebellar Ataxis (SCAs). MJD is also sometimes called SCA3. MJD occurs because of a fault in a chromosome that results in the reproduction of an abnormal protein. The 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 muscle control and significant permanent physical disability.  

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. The mutation is typically expanded (worsened) when it is passed to the next generation (known as an ‘anticipation effect’). Symptoms of the disease sometimes appear around 8 to 10 years earlier for each generation and can be more severe.  

There is no known cure for MJD. Progression to dependence occurs over 5 to 10 years after the onset of symptoms and most people are dependent on wheelchair use for their mobility and are entirely dependent on others for all activities of daily living within 10 to 15 years of the first symptoms emerging.