Ataxia They Found the Gene. Let's Find the Cure.

What is Machado-Joseph Disease (SCA3)?

Machado-Joseph Disease, also called Spinocerebellar Ataxia Type III (SCA3), is a hereditary neurodegenerative condition caused by glutamine-repeat expansion. MJD is somewhat similar to Huntington's Disease, Parkinson's Disease and ALS (Lou Gehrig's Disease). Confusingly, there are many types of ataxia, and Machado-Joseph Disease is just one of them. See how MJD / SCA3 fits into the scientific classifications of ataxias.

MJD usually strikes in mid-life but also affects children and older adults causing ataxia (loss of balance and clumsiness), slurred speech, difficulty swallowing, loss of eye movement, sensations and muscle mass. Currently there's no treatment or cure and it is eventually fatal. If one parent has the disease, each child has a 50% chance of inheriting it.

Machado-Joseph Disease often affects individuals of Portuguese descent but it is a world-wide problem. Families with MJD are found in Portugal, the Azore Islands, the United States, Japan, Germany, Africa, England, Scandinavia, France, China, Israel and in other parts of the world.

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