What is Leukodystrophy?

Leukodystrophy is an umbrella term which refers to a family of genetic conditions which all involve myelin, a fat which sheathes nerve cells. The term, derived from the Greek, means “ill growth of white matter.” In patients with leukodystrophy, myelin becomes degraded or fails to grow properly, and the patient develops nervous system disorders. Leukodystrophies can be characterized as central or peripheral, depending on the part of the nervous system involved, and they can be very serious.

Some leukodystrophies include: Canavan disease, childhood ataxia with central nervous system hypomyelination, Alexander disease, Refsum disease, Pelizaeus-Merzbacher disease, metachromatic leukodystrophy, cerebroteninous xanthomatosis, and adrenoleukodystrophy. Some conditions appear to be linked to ethnic inheritance, as with metachromatic leukodystrophy and adrenoleukodystrophy in people of Scandinavian heritage and Canavan disease is Ashkenazi Jews, while others appear spontaneously in many different populations.

People with leukodystrophy lack enzymes which help the body regulate myelin. In some cases, this means that myelin becomes degraded or is not built properly by the body, while in other instances, the body may be slow to grow myelin, which means that as it is broken down, it is not replaced. Typically, patients start out healthy, and experience a slow neurological decline which leads them to pursue treatment with a neurologist who can diagnose leukodystrophy after conducting some diagnostic tests. Leukodystrophy commonly emerges in infants and young children.

Symptoms of leukodystrophy can vary, depending on the condition a patient has, but they can include difficulty eating or swallowing, a staggering gait, poor coordination, confusion, and tremors. Some forms cause blindness, deafness, and other issues as they progress. Like other genetic disorders, leukodystrophy cannot be cured, because it involves a fundamental error in the DNA of the patient, but it can be managed. Taking steps early can improve quality of life for the patient and improve patient comfort.

People in populations associated with genetic disorders, including leukodystrophies, may want to consider getting genetic testing to see if they carry dangerous genes. Genetic counseling is especially advisable for people who want to have children, as advance genetic testing may help parents make informed decisions, and could help parents avoid the conception of a child who has a severe genetic disorder like leukodystrophy. Couples who have experienced repeated trouble conceiving or multiple miscarriages may also want to explore genetic testing options to see if they are carrying genes which result in birth defects which are incompatible with life.