Machado-Joseph disease
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| ICD-10 | G11.1 | |
|---|---|---|
| ICD-9 | 334.2 | |
| OMIM | 109150 | |
| DiseasesDB | 31961 | |
| MeSH | C10.228.140.252.190.530.530 | |
Machado-Joseph disease is a type of spinocerebellar ataxia caused by a mutation in the ATXN3 gene.
It causes ophthalmoplegia and cerebellar ataxia
It is also known as Spinocerebellar ataxia type 3.
It was first identified in 1972.
Machado-Joseph Disease is a rare, inherited disease that causes lack of muscle control. Chromosome 14 is where the gene that is responsible for MJD is located. Symptoms of MJD are spasticity, difficulty with speech and swallowing, weakness in arms and legs, clumsiness, frequent urination and involuntary eye movements. Symptoms can being in early adolescence and they get worse over time. There is no cure for Machado-Joseph Disease, however, there are treatments available for some symptoms. For example, spasticity can be reduced with Antispasmodic drugs, such as baclofen. Eventually, MJD leads to paralysis however, intellectual functions usually remain the same.
Machado- Jospeph disease mostly afflicts the people of the Azores and the Azorean diaspora.
Machado-Joseph Disease has lengthy irregular repetition of the DNA genetic code located within a gene on chromosome 14q. The code "CAG" is repeated and produces a mutated protein called ataxin-3. In affected cells, this protein piles up and assembles intranuclear inclusion bodies.
[edit] External links
- GPnotebook -234487767
- NINDS machado_joseph
- eNotes
- Machado-Joseph disease at the Open Directory Project (suggest site)
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