Mucolipidosis IV (ML4) is a neurodegenerative disorder characterized by growth and developmental delays, progressive retinal degeneration, and crossed eyes. It has relatively high carrier rates in the Ashenazi Jewish community.
Most infants affected with ML4 develop symptoms within their first year of life, and most never speak, walk, or develop beyond the level of a 1–2 year old. Most people with ML4 usually live into adulthood.
About 1 in 100 to 1 in 127 people of Ashkenazi Jewish descent are ML4 carriers, which means they have one copy of the gene change that causes Mucolipidosis Type IV.
When two carriers have a child together, there is a 1 in 4 chance the child will have ML4. (See autosomal recessive inheritance )
Highly accurate carrier testing and prenatal diagnosis is available for ML4, both for families with a previous history of the disease and for all couples with Ashkenazi Jewish ancestry.
Mucolipidosis IV (ML4) is a neurodegenerative disorder characterized by growth and developmental delays, progressive retinal degeneration, and crossed eyes. It has relatively high carrier rates in the Ashenazi Jewish community.
This entry was posted on Thursday, April 5th, 2007 at 11:47 am and is filed under Ashkenazi Jewish Diseases, Genetic Testing. You can follow any responses to this entry through the RSS 2.0 feed. You can leave a response, or trackback from your own site.