Mucolipidosis IV Foundation
ML4 is a genetic disease causing mental retardation, retinal degeneration, and limited lifespan. The mission of the Foundation is to fund, promote, and support medical research dedicated to developing treatments and a cure for ML4.
ML4 Symptoms
Typical “Classic” Mucolipidosis Type IV (ML4)
- Psychomotor retardation, similar to cerebral palsy.
- Mental retardation
- Children typically reach a maximum developmental age of 15 months in language and motor function.
- Receptive abilities are better than expressive abilities.
- Hypotonia (low muscle tone), but tendon reflexes are usually spastic.
- Corneal clouding
- Pseudo-strabismus (false appearance of crossed eyes)
- Progressive retinal degeneration, resulting in severe visual impairment/blindness by late teenage years.
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MRI of the brain typically shows a thin corpus collosum, and delayed growth in white matter of brain (myelination) - Achlorhydria (lack of acid in the stomach)
- Elevated gastrin levels in stomach
- Anemia (iron deficiency)
- Individuals with ML4 typically survive to adulthood, although it is believed that their life expectancy is reduced compared to healthy individuals.
Atypical and Mild Mucolipidosis Type IV (ML4)
- Individuals with Atypical or Mild ML4 are less severely affected than others with Typical “Classic” ML4.
- Some individuals attain the ability to walk independently. They develop slowly progressive ataxia and have mild eye abnormalities.
- Other individuals have presented with progressive visual impairment while having relatively normal psychomotor development.
Randy Gold, ML4 Foundation Vice President, was named the 2011 Jewish Community Hero sponsored by the Jewish Federations® of North America for his efforts around promoting awareness of the 19 known preventable Jewish Genetic Diseases.
