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Be on the lookout for the first symptoms of metachromatic leukodystrophy (MLD). Symptoms can be hard to identify and can progress rapidly

Be on the lookout for the first symptoms of metachromatic leukodystrophy (MLD). Symptoms can be hard to identify and can progress rapidly

A child with MLD can appear healthy at birth, but may show symptoms at any time during their development

Over half of children affected by MLD show symptoms before their third birthday
Over half of children affected by MLD show symptoms before their third birthday
Hear one mother describe her daughter’s first symptoms

There are 3 main subtypes of MLD: late infantile, juvenile, and adult MLD. Each subtype has specific symptoms and rates of progression. 

In the late infantile subtype, which is the most common form of MLD, children have trouble walking after their first year. With juvenile MLD, they may begin to show problems in performance between 3 and 10 years old. Adult onset MLD is the rarest form and usually begins after age 16. In the beginning stages, it is often mistaken as a psychiatric disorder because of changes in personality.

Below are some of the first symptoms you may see based on the subtype of MLD

All forms of MLD are progressive, so early diagnosis is key. If you see these signs and symptoms, don’t wait to speak to your doctor

All forms of MLD are progressive, so early diagnosis is key. If you see these signs and symptoms, don’t wait to speak to your doctor.

“She can’t even hold her head up anymore and is completely reliant on us…” One mother’s experience with MLD. Hear more of her story here

Learn more about who MLD affects and if testing would be right for your child

ARSA, arylsulfatase A.

Knowing the first signs and symptoms of MLD can help your child get tested and diagnosed sooner

Spotting MLD can be hard. A child with MLD may appear healthy at birth, but early diagnosis is important to get them the help they need.

It might be MLD if you notice early behavioral, motor, and cognitive problems.

Be alert to your child missing milestones and talk with your doctor if you see any signs of MLD

Be alert to your child missing milestones and talk with your doctor if you see any signs of MLD

Hear from one mother about why early diagnosis is so important

If you think it could be MLD, see a doctor or specialist for testing

You can test for MLD with a urine sample for sulfatide and ARSA enzyme testing OR blood tests to sequence the ARSA gene variant or detect ARSA leukocytes. Both can measure ARSA leukocytes.

Magnetic resonance imaging (MRI) can also confirm an MLD diagnosis because it can show the presence and absence of myelin (the protective layer).

MLD is a rapidly progressive and fatal disease; that is why it’s important to test and treat as soon as you can.
MLD is a rapidly progressive and fatal disease; that is why it’s important to test and treat as soon as you can.

It is important for families of a child with MLD to get tested, as there is a chance a sibling may also carry the ARSA gene mutation.

It is important for families of a child with MLD to get tested, as there is a chance a sibling may also carry the ARSA gene mutation.

Hear from one mother why genetic testing was so critical for her family