Metachromatic Leukodystrophy

Diagnosis

Mayo Clinic doctors who have training in nervous system conditions (neurologists) and other specialties diagnose people who have metachromatic leukodystrophy (MLD).

To diagnose metachromatic leukodystrophy, your doctor will conduct a physical examination and review your symptoms and medical history. Your doctor will check for signs of metachromatic leukodystrophy. Your doctor may order several tests to diagnose your condition and determine the severity of your condition.

• Blood and urine tests. Your doctor will conduct blood tests for an enzyme deficiency that causes metachromatic leukodystrophy. You also may have urine tests to check for buildup of fatty substances (lipids).
• Genetic tests. Your doctor will conduct genetic tests for mutations in the gene associated with metachromatic leukodystrophy. He or she also may recommend testing family members and women who are pregnant (prenatal testing) for mutations in the gene.
• Nerve conduction study. This test measures electrical nerve impulses and functioning in your muscles and nerves. A specialist places electrodes on your skin. The study measures the electrical impulses in your nerve signals when a small current passes through the nerve. Your doctor may use this test to look for nerve damage (peripheral neuropathy), a common finding in people who have MLD.
• Magnetic resonance imaging (MRI). This test uses powerful magnets and radio waves to produce detailed views of your brain in multiple planes. Your doctor may use this test to determine if you have characteristics of metachromatic leukodystrophy, including abnormal white matter (leukodystrophy) in your brain.
• Psychological and cognitive tests. Your doctor may test your psychological and thinking (cognitive) abilities. These tests may help in determining the effect of the condition on your brain functions.

Read more about genetic testing and MRI at MayoClinic.com.