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Mucolipidosis IV (ML4) is a neur...

Posted Sep 12 2008 3:16pm

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

Technorati Tags: mucolipidosis type IV, ml4, ashkenazi jewish diseases, carrier testing, genetic testing, genes, inheritance patterns, symptoms, treatment, resources

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