MLIV is often mistaken for cerebral palsy. In the first year of life individuals display significant delays in both motor and cognitive development and often have low muscle tone. Most do not develop speech or the ability to walk independently. Vision may be normal initially, but progressive visual impairment ensues over the first decade of life due to corneal clouding and retinal degeneration. Sensitivity to light and strabismus (crossed eyes) are also common findings, and blindness may occur later in life.
A physician knowledgeable of its symptoms may recommend genetic testing of the MLIV gene, which involves a simple blood test. Biochemical testing and/or a skin biopsy may also be recommended.
No effective treatment or cure is available at this time. Supportive care, such as physical, speech or occupational therapy may be recommended to improve quality of life. Other measures include topical drops for eye irritation and surgical correction of strabismus.
Since the disease was only first described in 1974, little is known about life expectancy for someone with MLIV. Individuals with this disorder are thought to have a reduced life expectancy, with current reported cases ranging from one to 45 years of age.
Genetic testing of the MLIV gene can identify 95% of Ashkenazi Jewish carriers. The Center encourages prospective parents to meet with a genetic counselor and get tested before conception, in order to make the best health care decisions for their family.
Testing is available to those with a previously affected child or to couples found to be at risk as carriers.