Nature of the Genetic Difficulty

Machado-Joseph Disease, also known as spinocerebellar ataxia type-3 is caused by the repetition of the genetic code "CAG" within the ATXN3 gene that creates the disease protein ataxin-3. This disease is autosomal dominant and is the most prevalent form of this kind of ataxia.

Basic Facts of Disease

This disease causes the degeneration of brain cells when the mutated ataxin protein latches onto one another and forms clumps within in the brain. The disease has a feature called anticipation in which the disease, as it is passed from generation to generation can be seen at an earlier time if it is passed on. This feature can especially be seen earlier if the disorder is passed from the father. This disease as it progresses will eventually slow the physical capabilities of its victims in symptoms very similar to Parkinson's disease.


There is no current cure for Machado-Joseph disease, yet, therapy like that used for Parkison patients can often delay the onset of physical issues that are also presented in Parkinson's. Speech therapy will help patients by delaying the onset of speech difficulty. This disorder also causes restlessness and swallowing problems that may lead to other problems.

Sources Cited