What is Metachromatic Leukodystrophy?

Metachromatic leukodystrophy (MLD) is a rare hereditary disorder that destroys the white matter of the brain, spinal cord, and peripheral nerves. It is one of a group of lysosomal storage diseases.

In MLD, lipid substances known as sulfatides accumulate in the cells. Accumulation damages the myelin sheath, a protective layer surrounding nerve fiber, and the component responsible for whitening matter. Consequently, brain and motor skills deteriorate. Symptoms in MLD get progressively worse and normally result in death several years from diagnosis.

MLD gets its name from the way that cells appear in a microscope after staining. The sulfatides are metachromatic, i.e., stain differently than adjacent cells. "Leukodystrophy" refers to progressive white matter destruction.

Types of Metachromatic Leukodystrophy (MLD)

There are three types of MLD:

• Late infantile MLD: This type affects infants between 12 to 20 months. The symptoms are walking impairment, developmental delay, blindness, and dementia. The majority of children with this type of MLD do not live beyond the age of 5. It contributes to 50% to 60% of cases of MLD.
• Juvenile MLD: This type occurs in children between the ages of 3 and 10. It causes intellectual deterioration, behavioral disturbances, seizures, and dementia. Children with juvenile MLD typically survive 10 to 20 years after diagnosis. 20% to 30% of MLD are juvenile.
• Adult MLD: This type begins after age 16 and causes psychiatric changes, seizures, and dementia. People with adult MLD usually live six to 14 years after diagnosis. It makes up about 15% to 20% of MLD cases.

What are the Symptoms of metachromatic leukodystrophy?

Symptoms differ by type but typically impair neurological function, impacting movement, thinking, mood, and personality.

Symptoms of late infantile MLD are:

Normal early development followed by:

• Weakness of walking, resulting in inability to walk.
• Weak muscle tone (hypotonia).
• Delays in development.
• Weak speech (dysarthria).
• Gradual loss of vision, resulting in blindness.
• Weak swallowing (dysphagia).
• Dementia.

Symptoms of juvenile MLD include:

• Weak school performance due to intellectual deterioration.
• Behavioral problems.
• Personality changes.
• Inability to control muscle movement.
• Nerve impairment (peripheral neuropathy).
• Seizures.
• Dementia.

Symptoms of MLD in adults are predominantly psychiatric changes with limited motor problems. Common early signs are alcohol use disorder, substance use disorder, or academic or work difficulties.

Some other symptoms are:

• Psychiatric issues such as hallucinations or psychosis.
• Seizures.
• Nerve issues (peripheral neuropathy).
• Dementia.

Adult MLD can be misdiagnosed by doctors as bipolar disorder or dementia.

What causes metachromatic leukodystrophy?

MLD is due to a gene mutation passed on from both biological parents. Most individuals with MLD carry mutations in the ARSA gene, which codes for production of the enzyme arylsulfatase A. The enzyme degrades sulfatides. Individuals with MLD do not produce sufficient arylsulfatase A, thus resulting in the accumulation of toxic sulfatides within the white matter and inflicting cell injury. Others have mutations within the PSAP gene, which also degrades sulfatides.

Is metachromatic leukodystrophy genetic?

Yes, MLD is inherited in an autosomal recessive manner. Each of the biological parents carries one copy of the mutated gene but does not typically have symptoms (they are "carriers").

How is metachromatic leukodystrophy diagnosed?

If a physician suspects MLD based on symptoms, he or she will typically order:

• Genetic testing to detect mutations in the ARSA and PSAP genes.
• Biochemical tests to quantify sulfatide levels. These comprise sulfatase enzyme function and urine sulfatide quantification tests.
• Brain MRI to establish the diagnosis. An MRI can indicate myelin presence or absence, as in MLD.

You or your child might need further tests to determine the progress of the condition after they have been diagnosed with MLD.

• Neurocognitive testing.
• Neuropsychological testing.
• Nerve conduction tests.

What is the treatment for metachromatic leukodystrophy?

There is no cure for metachromatic leukodystrophy. Treatment focuses on controlling your symptoms and improving your quality of life. In pre or minimally symptomatic children, medical professionals may offer stem cell transplants to delay disease progression.

Supportive treatment might involve a range of medications for the following conditions:

• Seizures (anticonvulsant drugs).
• Spasticity (muscle relaxants).
• Mood disorders (antidepressants).
• Pain (NSAIDs and other drugs).

Other forms of therapy might involve:

• Physical therapy to assist with muscle strength and tightness.
• Occupational therapy to enhance your ability to carry out daily activities.
• Speech therapy to assist with any speech and swallowing problems.
• Psychotherapy to assist with mental illness.
• Percutaneous endoscopic gastronomy (PEF) to assist with feeding difficulties and nutrition.

You or your child might also want to access palliative care. Palliative care helps to relieve the symptoms, be comfortable and supports individuals who have serious illness, such as MLD. It also assists caregivers and relatives affected by an individual's health.

Palliative care is added to the care you already get from the professionals who assist you in controlling MLD. It allows you to live more comfortably — with the medical, social and emotional care needed to deal with a serious health issue.

Can metachromatic leukodystrophy be prevented?

Since metachromatic leukodystrophy is a genetic (hereditary) disease, there is nothing you can do to avoid it.

If you have a biological relative with MLD, you might consider genetic counseling if you're planning on having a biological child to determine if you carry the genetic mutation.

What is the prognosis for metachromatic leukodystrophy?

The outlook (prognosis) for metachromatic leukodystrophy is not good. It is a disease that gets worse and/or spreads to other parts of the body over time. Individuals who have MLD will lose all muscle and mental functions, which leads to death.

What is the life expectancy of metachromatic leukodystrophy?

Metachromatic leukodystrophy life expectancy varies based on the age at diagnosis.

• Late infantile form: Death usually occurs within five or six years of diagnosis.
• Juvenile form: The disease progresses more slowly in this type of the disease. It usually causes death 10 to 20 years after diagnosis.
• Adult form: Death usually occurs within six to 14 years of diagnosis.

Living With

How do I care for my child or myself?

If you or your child have metachromatic leukodystrophy (MLD), you should speak up for yourself and them so that you and they receive the best medical care available. Speaking up for care can help you or your child achieve the highest possible quality of life.

You and your family might also want to consider joining a support group so you can meet others who understand what you are going through.

Why Choose Tender Palm Super-Speciality Hospital for Metachromatic Leukodystrophy Treatment in Lucknow, India?

Tender Palm Super-Speciality Hospital offers advanced Metachromatic Leukodystrophy treatment in Lucknow, India, at an affordable cost. We have a team of experienced neurologists and genetic disorder specialists who provide accurate diagnosis and  treatment options including enzyme replacement therapy, stem cell transplantation, and comprehensive neurological rehabilitation procedures. Our Neurology and Genetic Disorder Care team has decades of experience in successfully treating Metachromatic Leukodystrophy in Lucknow, India.

To seek an expert consultation for Metachromatic Leukodystrophy Treatment in Lucknow, India:

Call us at +91-9076972161
Email at care@tenderpalm.com

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