Machado-Joseph disease

Machado-Joseph disease, or MJD, also called spinocerebellar ataxia type 3, is a rare neurodegenerative disease inherited in an autosomal dominant pattern that causes progressive cerebellar ataxia, a loss of muscle control and coordination in the arms and legs. It results from an abnormal expansion of CAG trinucleotide repeats in the ATXN3 gene, which produces a faulty form of the protein ataxin and leads to the degeneration of cells in the hindbrain. Clumsiness and rigidity can lead it to be mistaken for drunkenness or Parkinson's disease. It is a type of spinocerebellar ataxia and the most common cause of dominantly inherited ataxia, producing paralysis of eye movement together with a mixed sensory and cerebellar ataxia. Its alternative names include Machado's disease, Joseph's disease and Machado-Joseph Azorean disease.