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.
Treatment and Diagnosis of ML4
Diagnosis
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Individuals with clinical findings/symptoms for ML4 can have a simple blood test to check for elevated gastrin levels. - Molecular genetic testing of MCOLN1, the only gene known to be associated with ML4, confirms the diagnosis in most individuals.
- Two mutations of the gene account for 95% of mutations in individuals of Ashkenazi (Eastern European) heritage.
Treatment
- There is no medical treatment available at the present time.
- Intensive physical therapy for spasticity and ataxia is highly recommended for acquisition of skills, and prevention of secondary complications.
- Some individuals way develop the ability to sit independently or crawl. Many have learned to walk with the aid of ankle-foot orthotics (AFO’s) and gait trainers.
- Occupational, speech, and vision therapies are also highly recommended to improve life skills.
- Spoken language is limited to a few or no words. Many individuals use some sign language to communicate.
- Some children have had great success with the use of “auditory scanning” to make choices.
- Pureed foods and thickened liquids are necessary for many individuals, to prevent choking and aspirating while eating.
- Iron supplements, as needed, are important to prevent anemia.
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.
