Machado–Joseph disease

Machado-Joseph disease
Classification and external resources
Specialty	neurology
ICD-10	G11.1
ICD-9-CM	334.2
OMIM	109150
DiseasesDB	31961
MeSH	D017827
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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, which results in a lack of muscle control and coordination of the upper and lower extremities. The symptoms are caused by a genetic mutation that results in an expansion of abnormal "CAG" trinucleotide repeats in the ATXN3 gene that results in an abnormal form of the protein ataxin which causes degeneration of cells in the hindbrain. Some symptoms, such as clumsiness and rigidity, make MJD commonly mistaken for drunkenness or Parkinson's disease.

Machado–Joseph disease is a type of spinocerebellar ataxia and is the most common cause of autosomal-dominant ataxia. MJD causes ophthalmoplegia and mixed sensory and cerebellar ataxia.

The disease was first identified in 1972.

Unlike many other medical conditions, Machado–Joseph disease isn't named after researchers. It is named after two men ("William Machado" and "Antone Joseph") who were the patriarchs of the families in which the condition was initially described. The highest prevalence of the condition is on Groote Eylandt where 5% of the population are currently symptomatic or at risk. Followed by the Azorean island of Flores where around 1 in 140 individuals in the population are diagnosed with MJD.

Flores and São Miguel are centers of the Machado–Joseph disease in the Azores.

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