Metachromatic Leukodystrophy

What is Metachromatic Leukodystrophy?

Individuals who are diagnosed with this disorder lack a certain enzyme in their body that is necessary for breaking down sulfatides or fats. Without this enzyme, these fatty substances collect in the cells of the body, including the central nervous system.

This process has a negative effect on the nerves that control the brain and spinal cord. Sensory cells in the peripheral nervous system are also damaged and this often leads to seizures, blindness and paralysis. Individuals who have Metachromatic leukodystrophy inherit it from their parents. Both parents must have the gene for a child to acquire this disorder.

What are the Symptoms of Metachromatic Leukodystrophy?

When symptoms of this disorder start to surface, they are often hardly noticeable because they appear slowly.

Symptoms include

Memory problems, eyesight issues and body numbness.

Later symptoms that cause a disruption in the normal function of the muscles include a decline in muscle tone, unnatural movements of the muscles and the inability to control the muscles. Some individuals have problems swallowing, eating and speaking. Walking can become complicated and it is not unusual for individuals to lose their balance and repeatedly fall. Behavioral issues and an ill temper are also common symptoms of metachromatic leukodystrophy.

Metachromatic Leukodystrophy Causes

Metachromatic leukodystrophy is a hereditary disorder, caused by an enzyme arylsulfatase A deficiency. The condition inhibits the breakdown of lipids triggering the brain and nervous system to malfunction. The culprit is the accumulation of fatty substances known as lipids in the brain, spinal cord and the peripheral nerves.

As an autosomal recessive trait, this neurometabolic disease takes on three forms differentiated by age; infant, juvenile and adult. Each metachromatic leukodystrophy progressives rapidly, affecting the loss of intellectual and motor functions caused by the fatty substance becoming toxic to the body.

Family histories of this disorder occur in one of the age categories. In some cases, only one parent is a carrier with no signs of the disease appearing in the parent, but the inherited trait passes on to offspring. When both parents have the inherited mutated gene, the risk of developing the condition increases for the child.

How is Metachromatic Leukodystrophy Treated?

Since there is no cure for metachromatic leukodystrophy, treatment is centered on controlling the symptoms.

Treatments include

Types of medications that are normally prescribed include pain relievers and drugs that will aid in controlling the muscles. Therapy sessions often help individuals improve the motions of their muscles and speech therapy will help with speaking problems. Individuals who have eating and swallowing issues will benefit with assistance from a certified nutritionist.

Some people elect to have a bone marrow transplant to keep the disease from advancing at a rapid rate. This type of treatment is best suited for individuals who are in the early stages of the disease as it will not improve the damage that currently exists.

Metachromatic Leukodystrophy Prevention

There is no cure for metachromatic leukodystrophy and the options for treatment are few. If you have a family history of this disease, you need to talk with your doctor immediately. If you are a parent carrier with no signs of the condition and considering children, you need to seek advice.

Your doctor will recommend lab tests including blood, urine, genetic screening and physical examinations to determine the deficiency level and any buildup of fatty substances. MRIs help to measure the nerve damage caused by the condition.

The more you learn about your own genetics and the inherited trait risks of this disease will help you to understand how the condition progress. Medications and therapy treatments are the first courses of action. Sometimes surgery can help to slow down the progression and prevent future damage, but it cannot restore or repair the damage previously done.

Last Reviewed:
September 21, 2016
Last Updated:
March 08, 2018