What is machado joseph disease?
MACHADO-JOSEPH disease (MJD) is a late-onset, progressive, neurodegenerative disorder that involves the cerebellar, ocular motor, pyramidal, extrapyramidal, and peripheral motor systems. The mean age at onset is 40.5 years. The estimated median survival time is 20 years.
How is machado joseph disease inherited?
MJD is an autosomal dominant disease, meaning that if either parent gives the defective gene to a child, the child will show symptoms of the disease. Therefore, if one parent suffers from this disease and the other parent does not, there will be a 50% chance of their child inheriting the disease.
What gene causes ataxia?
The disease gene that causes ataxia telangiectasia, known as the ATM gene, is located on the long arm (q) of chromosome 11 (11q22. 3). Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual.
How many people have Machado-Joseph Disease?
Machado-Joseph disease (MJD, also known as spinocerebellar ataxia 3 or SCA3) is the most common dominant ataxia worldwide, with an overall average prevalence of 1–5/100,000.
What is the Portuguese disease?
MJD is a rare inherited neurological disorder that disproportionately affects individuals of Portuguese descent, especially those from the Azores, an island colonized by Portuguese people. MJD appears to affect slightly more males than females.
How is hereditary ataxia diagnosed?
For a diagnosis of hereditary ataxia, there must be a neurological examination that shows poorly coordinated gait, often combined with uncoordinated finger/hand movements. Difficulty with speech (dysarthria) and uncontrolled eye movements (nystagmus) may also be present.
What is SCA3?
Spinocerebellar ataxia type 3 (SCA3) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and balance (ataxia).