Mucolipidosis IV (ML IV) is a rare inherited disease that
causes slowly progressive nervous system deterioration. It is usually diagnosed
during the first year of life.
Children with ML IV appear normal
at birth but slowly develop nervous system problems. Motor skills, such as
sitting, are delayed. Most children with ML IV do not learn to walk. Some
children develop severe intellectual disabilities during the second or third year of
life. Other symptoms of ML IV include clouding of the clear covering of the
colored part of the eye (cornea), crossed eyes, and blindness. Most people with
ML IV do not live beyond the age of 30.
There is no treatment for mucolipidosis IV. Support groups
and counseling can be helpful for people with mucolipidosis IV and for their
families. Genetic testing is recommended to identify carriers of the disease
and to help guide decisions about having children.
Patrice Burgess, MD - Family Medicine & Siobhan M. Dolan, MD, MPH - Reproductive Genetics