Metachromatic Leukodystrophy

Overview

If your or your child’s healthcare provider (often, a neurologist) suspects metachromatic leukodystrophy based on your symptoms, they’ll likely order these tests:

Genetic testing: This can identify mutations in the ARSA and PSAP genes, which are responsible for MLD.
Biochemical testing: This testing measures your levels of sulfatides. Tests include sulfatase enzyme activity and urine (pee) sulfatide levels.
Brain MRI: A brain MRI can confirm the diagnosis of MLD. It can show the presence or absence of myelin, as there’s a typical pattern of myelin loss in people who have MLD.

You or your child will likely have additional testing if you receive an MLD diagnosis to see how the condition has affected your nervous system. These tests may include:

Neurocognitive testing.
Neuropsychological testing.
Nerve conduction tests.

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Symptoms

When to see a doctor

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Complications

Blood clots are a dangerous complication of atrial fibrillation (AFib). Blood clots can lead to stroke.

The risk of stroke from AFib increases as you grow older. Other health conditions also may increase the risk of a stroke due to AFib. These conditions include:

High blood pressure.
Diabetes.
Heart failure.
Some types of heart valve disease.

Blood thinners are commonly prescribed to prevent blood clots and strokes in people with atrial fibrillation.

Prevention

Healthy lifestyle choices can reduce the risk of heart disease and may prevent atrial fibrillation (AFib). Here are some basic heart-healthy tips:

Control high blood pressure, high cholesterol and diabetes.
Don't smoke or use tobacco.
Eat a diet that's low in salt and saturated fat.
Exercise at least 30 minutes a day on most days of the week unless your health care team says not to.
Get good sleep. Adults should aim for 7 to 9 hours daily.
Maintain a healthy weight.
Reduce and manage stress.

By Mayo Clinic Staff

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Diagnosis & treatment

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