Actor portrayal.
How is metachromatic leukodystrophy (MLD) diagnosed
If you think it could be MLD, see a doctor or specialist for testing
A urine test is a simple way to identify if there is a deficiency of ARSA, a key indicator of MLD. Your doctor may also order ARSA enzyme testing, genetic testing, or magnetic resonance imaging (MRI). An MRI can show the presence and absence of myelin (the protective layer). Confirming a diagnosis of MLD will require genetic testing.
Hear from one mother why early testing is so critical
MLD is a rapidly progressive and fatal disease; that is why it’s important to test and treat as soon as you can
Knowing the first signs and symptoms of MLD can help your child get tested and diagnosed sooner. It might be MLD if you notice early behavioral, motor, and cognitive problems.
