What is it? A rare genetic disease that results in physical and mental handicaps. The condition is caused by a deficiency in an enzyme that regulates the eyes, the nervous system and the kidneys.
Who gets it? Males. The condition is linked to the X chromosome and is transmitted by a recessive gene from mother to son. Females who have the defective gene are carriers and usually don't show symptoms.
What are the symptoms? Patients may have some but not necessarily all of the following symptoms: cataracts, glaucoma, poor muscle tone, delayed motor development, mental retardation, seizures, short stature, kidney trouble, a tendency toward bone fractures, scoliosis and joint problems.
What are the treatments? Many of the symptoms can be treated with medication, surgery, physical therapy and special education.
Research: The disease was first described in 1951 by Dr. Charles Lowe and his colleagues. The gene that causes the syndrome was pinpointed in 1992.
DNA testing. According to Dr. Richard A. Lewis, a professor at Baylor College of Medicine in Houston and an expert on Lowe syndrome, DNA testing will be available by October at Baylor College. The price will be between $600 to $1,000, depending on the rarity of the Lowe's mutation in the body.
Do you have the defective gene? Have your eyes tested for a pattern of cataract traces that is specific to Lowe syndrome. According to Kaye McSpadden, who chairs medical research for the Lowe Syndrome Association, women should have their eyes tested by an ophthalmologist who is familiar with the syndrome and the cataract pattern, which is not easy to recognize. McSpadden said a woman suspected of having a Lowe's baby usually will be working with a geneticist, who may be able to refer her to an ophthalmologist who is familiar with Lowe syndrome.
For information: Contact the Lowe Syndrome Association (LSA), 222 Lincoln St., West Lafayette, IN 47906; 1-765-743-3634.
WEB SITE: www.lowesyndrome.org
Source: Lowe Syndrome Association's Web site and its links to other sites.