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Be on the lookout for the symptoms of metachromatic leukodystrophy (MLD)

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Actor portrayal.

Be on the lookout for the 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.
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Over half of children affected by MLD show symptoms before their third birthday
There are 3 main subtypes of MLD: late infantile, juvenile, and adult MLD. Each subtype has specific symptoms and rates of progression. 

Hear one mother describe her daughter’s first symptoms

Below are some symptoms you may see based on the age of MLD onset.

Select a subtype of MLD to explore its associated potential symptoms and see how they may appear in a patient affected by MLD.

Symptom affects the patient’s motor function
Symptom affects the patient’s cognitive function
Hypotonia shown when lifting head/neck (floppy neck)

A child with MLD may have trouble lifting their head upright. You may notice that your child appears to have lost control of their head.

Loss of balance/difficulty walking

You may notice your child having difficulty going from crawling to standing or showing instability when it comes to balance. This is associated with a condition called ataxia. They may have frequent falls, walk unsteadily, and/or sometimes lose their balance.

Tremors and shaking

Children may experience tremors or shaking in their hands or feet. Keep an eye on any slight tremors or shaking that occurs.

Nystagmus

An eye condition called nystagmus is a symptom associated with MLD. This is when your child displays involuntary eye movements, such as their eyes moving back and forth or up and down.

This could happen for a period of time and then disappear, but even if it’s brief, it’s still abnormal and can be an early sign of MLD.

Strabismus

Children with MLD may appear cross-eyed or have eyes that are misaligned. This can happen overnight, and their eyes may stray towards the right, left, up, or down. This is called strabismus and can happen in one or both eyes.

This could happen for a period of time and then disappear, but even if it’s brief, it’s still abnormal and can be an early sign of MLD.

Developmental delay/regression

If a child is missing certain expected milestones or is more developmentally delayed than the average child, this could be a sign of MLD. You may notice this if your child is not able to say more than a few words or has regressed, meaning they were able to do something before but no longer can.

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Lack of/diminished reflexes

Children with MLD may have weakened reflexes and loss of sensation in certain areas of the body.

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Loss of balance and weakness of the legs

Children with MLD will typically display abnormal movement patterns or instability when it comes to balance. They may have frequent falls associated with a condition called ataxia.

Tremors and shaking

Children may experience tremors or shaking in their hands or feet. Keep an eye on any slight tremors or shaking that occurs.

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Difficulty in school or with concentration

A cognitive sign of MLD is difficulty learning or forgetfulness. You may notice a decline in their school performance, issues with comprehension and concentration, or a regression in writing.

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Personality changes

You may see your child experience personality changes or behavioral issues. Children with MLD may be impulsive or have trouble with sleep.

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Loss of bladder/bowel control

Children with MLD may lose the ability to control urination and bowel movements.

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Fine motor/coordination issues

Children may have trouble with their motor coordination, including functions like picking up small objects and drawing or coloring.

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Loss of balance and weakness of the legs

Children with MLD will typically display abnormal movement patterns or instability when it comes to balance. They may have frequent falls associated with a condition called ataxia.

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Tremors and shaking

Children may experience tremors or shaking in their hands or feet. Keep an eye on any slight tremors or shaking that occurs.

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Difficulty in school or with concentration

A cognitive sign of MLD is difficulty learning or forgetfulness. You may notice a decline in their school performance, issues with concentration, or a regression in writing.

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Personality changes

You may see your child experience personality changes or behavioral issues. Children with MLD may be impulsive or have trouble with sleep.

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Cognitive and language regression

Children with MLD may show declines in their language and thinking abilities.

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Social withdrawal

Children with MLD may experience decreased social interactivity due to disruptions in their behavior and reduced physical and mental abilities.

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Behavioral changes

You may notice some changes in behavior in an adult with MLD.

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Cognitive difficulties or disorganized thinking

An adult with MLD may display mental difficulties or thinking that appears jumbled.

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Decline in school or job performance

Adults with MLD may have a consistent decline in their school or job performance or a decline in their intellectual abilities.

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Psychiatric symptoms and hallucinations

Adults with MLD will display psychiatric symptoms, such as schizophrenia or hallucinations.

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Seizures

If an adult is having seizures, there is a possibility they have MLD.

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Loss of bladder/bowel control

A sign of MLD in adults may be a loss of the ability to control urination and bowel movements.

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These are illustrative or animated portrayals to show how MLD symptoms and potential impairments may display. Symptoms and experiences may vary. For illustrative purposes only.

“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
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All forms of MLD are progressive, so early diagnosis is key.

If you see any of the above signs and symptoms or if your child is starting to miss milestones, talk to your doctor about testing for a neurometabolic disorder, such as MLD