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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]
Machado-Joseph disease still has no treatment. The cerebellum is one of the regions of the brain most affected, leading to extensive neuronal death, difficulties with motor coordination ...
Within the first subclass of Type 1 are SCA1, SCA2, SCA3, SCA17, and DRPLA. This first subclass is the most common of Type 1 ADCAs with SCA3 being the most common subtype of all of Type 1. SCA3, Machado-Joseph disease, is the most common because the mutation repeats more than 56 times while the regular length is around 13 to 31. [4]
Machado–Joseph disease, also known as spinocerebellar ataxia-3, is an autosomal dominant neurologic disorder. The protein encoded by the ATXN3 gene contains CAG repeats in the coding region, and the expansion of these repeats from the normal 13-36 to 68-79 is the cause of Machado–Joseph disease.
Disease ID 4071 at NIH's Office of Rare Diseases: Spinocerebellar ataxia 2 183090: Disease ID 4072 at NIH's Office of Rare Diseases: Spinocerebellar ataxia 3; Machado Joseph disease 109150: Disease ID 6801 at NIH's Office of Rare Diseases: Spinocerebellar ataxia 4 600223: Disease ID 9970 at NIH's Office of Rare Diseases: Spinocerebellar ataxia ...
Machado-Joseph disease is caused by polyglutamine expansions in ataxin 3. Ataxin 7, coded by ATXN7. Polyglutamine expansions in Ataxin 7 cause SCA7. Ataxin 8, coded by ATXN8. Ataxin 8 does not cause an ataxic order, but a gene on the opposite strand, ATXN8OS, causes Spinocerebellar ataxia type 8 with CTG expansion. Ataxin 10, coded by ATXN10.
Troriluzole is an experimental medication that has been investigated as a potential treatment for Machado–Joseph disease (MJD), [1] obsessive–compulsive disorder (OCD), [2] [3] and glioblastoma. [4] It is a prodrug formulation of the medication riluzole. [2] [4]
The Transportation Security Administration is expecting over 18 million people to take to the skies this week, making 2024 a contender for the busiest Thanksgiving travel period on record. That's ...