Diagnosis

Your doctor will perform a physical examination ? including a neurological exam ? and review symptoms and medical history to check for signs of metachromatic leukodystrophy.

Your doctor may order tests to diagnose the disorder. These tests also help determine how severe the disorder is.

• Lab tests. Blood tests look for an enzyme deficiency that causes metachromatic leukodystrophy. Urine tests can be done to check sulfatide levels.
• Genetic tests. Your doctor may conduct genetic tests for mutations in the gene associated with metachromatic leukodystrophy. He or she may also recommend testing family members, particularly women who are pregnant (prenatal testing), for mutations in the gene.
• Nerve conduction study. This test measures electrical nerve impulses and function in muscles and nerves by passing a small current through electrodes on the skin. Your doctor may use this test to look for nerve damage (peripheral neuropathy), which is common in people with metachromatic leukodystrophy.
• Magnetic resonance imaging (MRI). This test uses powerful magnets and radio waves to produce detailed pictures of the brain. These can identify a characteristic striped pattern (tigroid) of abnormal white matter (leukodystrophy) in the brain.
• Psychological and cognitive tests. Your doctor may assess psychological and thinking (cognitive) abilities and assess behavior. These tests may help determine how the condition affects brain function. Psychiatric and behavioral problems may be the first signs in juvenile and adult forms of metachromatic leukodystrophy.