Machado–Joseph disease
Genetic neurodegenerative disease / From Wikipedia, the free encyclopedia
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Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia,[1][2] which results in a lack of muscle control and coordination of the upper and lower extremities.[3] The symptoms are caused by a genetic mutation that results in an expansion of abnormal "CAG" trinucleotide repeats in the ATXN3 gene[1] that results in an abnormal form of the protein ataxin which causes degeneration of cells in the hindbrain.[3] Some symptoms, such as clumsiness and rigidity, make MJD commonly mistaken for drunkenness or Parkinson's disease.
Machado-Joseph disease | |
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Other names | Autosomal dominant striatonigral degeneration, Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia |
Machado–Joseph disease is inherited via an autosomal dominant manner | |
Specialty | Neurology |
Machado–Joseph disease is a type of spinocerebellar ataxia and is the most common cause of autosomal-dominant ataxia.[1] MJD causes ophthalmoplegia and mixed sensory and cerebellar ataxia.