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People with Costeff optic atrophy syndrome, also called 3-methylglutaconic aciduria type 3 (3-MGCA 3), experience both visual problems as well as involuntary spastic physical movements. The symptoms tend to worsen through childhood.
A hallmark of the disease is optic atrophy, a progressive loss of visual acuity beginning in the first few years of life. In some, the eyes also show an involuntary horizontal back-and-forth movement.
The other defining symptom of Costeff optic atrophy syndrome is chorea, a tendency toward involuntary jerky movements that begin before the age of 10. Most will develop weakness and spasticity in the leg muscles along with a general lack of control of the body muscles. They may have trouble maintaining their posture. Many, though not all, will need to use a wheelchair from an early age.
Some people with the disease have mild cognitive problems, which often develop between the ages of 10 and 20. People develop most symptoms by the end of their 20s.
The severity of symptoms can vary from person to person, even among those in the same family.
This disease is most common in Iraqi Jews, in whom 1 in 10,000 newborns are affected by the disease. Only a few cases of the disease have been seen outside the Iraqi Jewish population. The mutation for which Counsyl screens has been found exclusively in Iraqi Jews and is responsible for all the known cases of Costeff optic atrophy syndrome in that population.
There is no cure for Costeff optic atrophy syndrome; treatments can only address symptoms as they arise. Medical teams can attempt to maximize the person's vision and address the movement problems. In many cases, a wheelchair will be necessary. Often the medical team includes a neurologist, orthopedic surgeon, ophthalmologist, geneticist, and physical therapist.
People with the Costeff optic atrophy syndrome have been known to live into their 30s; life expectancy beyond that is unknown.
A medical database of genetic disorders funded by the National Institutes of Health and developed at the University of Washington, Seattle. Much of the language in GeneReviews is meant for physicians and other scientists.
Explanations of an extensive number of genetic diseases by the U.S. government's National Institutes of Health.