Indicators Of Metachromatic Leukodystrophy

Vision Loss

Many patients with all types of metachromatic leukodystrophy experience visual changes that gradually lead to complete vision loss. Vision issues are generally more pronounced in the infantile forms of this condition. Vision loss may be preceded by other eye issues, including nystagmus (abnormal eye movements) and esotropia. Doctors can assess vision problems and the severity of vision loss with a comprehensive eye exam. Loss of vision usually starts with the inability to read text, and patients then have trouble seeing colors and photographs or drawings. As loss of vision advances, patients lose the ability to identify people at a distance, and they may have holes in their vision that prevent them from seeing areas in the center of their visual field or in the periphery. Eventually, patients will only be able to see light and dark; finally, they will not be able to see light. To help patients with loss of vision, caregivers may wish to read to them, and glasses may enable some patients to overcome visual deficits for a period.

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Difficulty Swallowing

Difficulty swallowing can affect both speech and feeding for patients with metachromatic leukodystrophy. Swallowing problems often progress rapidly. In many cases, the swallowing difficulties become so severe that patients cannot eat normally and must rely on a feeding tube for nourishment. The feeding tube is the safest option for feeding patients with this condition; trying to eat regularly increases the risk of choking to an unacceptably high level. To help metachromatic leukodystrophy patients with swallowing difficulties receive nourishment, doctors typically place either a J-tube or a G-tube directly into the digestive system, allowing nutrition to be readily absorbed. The tube placement requires a small surgical procedure, and the patient's caregiver must be instructed as to how to clean the tube and properly administer the formula into the tube.

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