Machado-Joseph disease

Machado-Joseph disease, also known as spinocerebellar ataxia type 3 (SCA3), is a rare neurodegenerative disorder. It is the most common subtype of type 1 autosomal dominant cerebellar ataxia. This condition affects the nervous system and is known for impacting movement and eye control. People with this condition experience problems with balance and coordination, as well as difficulties in controlling eye movements. The disease is progressive, which means symptoms can worsen over time, affecting daily activities and overall quality of life.

People with Machado-Joseph disease often experience ataxia, which is difficulty with balance and coordination. They may also develop external progressive ophthalmoplegia, which means there is a gradual difficulty with eye movements. Other neurological symptoms may be present, though details are limited.

Machado-Joseph disease is caused by changes in the ATXN3 gene. It is inherited in an autosomal dominant pattern, meaning that a change in one copy of the gene can cause the condition. This genetic mutation leads to the gradual breakdown of nerve cells in the brain.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.