TalkFast Facts About Mucolipidosis Type IV
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.
- ML4 Resources: National MPS Society, Inc., ML4 Foundation
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April 7th, 2007 at 8:06 am
“When two carriers have a child together, there is a 1 in 4 chance the child will have Canavan”
this quote from the post is incorrect. having genes for ml4 has no bearing on canavan, a distinct disorder
April 9th, 2007 at 9:33 am
Jon, you are absolutely right! I’ve edited the above so that it’s correct: if you’re both ML4 carriers, there’s a 1 in 4 chance you’ll have a child with ML4. Thanks for spotting the typo.