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Is metachromatic leukodystrophy fatal?

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Is metachromatic leukodystrophy fatal?

Table of Contents

  • Is metachromatic leukodystrophy fatal?
  • Is MLD curable?
  • Is there treatment for Pelizaeus Merzbacher?

Leukodystrophies are progressive, so the neurological problems get worse over time. They’re usually fatal. Many children with leukodystrophy die before their teenage years. Some people survive into adulthood.

What is metachromatic leukodystrophy?

Overview. Metachromatic leukodystrophy is a rare hereditary (genetic) disorder that causes fatty substances (lipids) to build up in cells, particularly in the brain, spinal cord and peripheral nerves. This buildup is caused by a deficiency of an enzyme that helps break down lipids called sulfatides.

What causes Pelizaeus-Merzbacher disease?

Pelizaeus-Merzbacher disease is a disorder that affects the brain and spinal cord. It is a type of leukodystrophy and is characterized by problems with coordination, motor skills, and learning. It is caused by an inability to form myelin due to genetic changes in the PLP1 gene.

Is MLD curable?

There is currently no cure for MLD, a disease caused by a fault in the gene that produces an enzyme called arylsulfatase A (ARSA). This leads to a build-up of substances called sulfatides in the central and peripheral nervous system.

How long do children with MLD live?

Psychiatric symptoms such as hallucinations may follow before further symptoms. This also progresses slowly; life expectancy is 20-30 years from diagnosis.

What are symptoms of Pelizaeus Merzbacher?

Symptoms can begin in infancy and include problems with feeding, poor weight gain and slow growth, high-pitched breathing caused by an obstructed airway (stridor), nystagmus, progressive speech difficulties (dysarthria), severe ataxia, hypotonia, and seizures.

Is there treatment for Pelizaeus Merzbacher?

There is no cure for Pelizaeus-Merzbacher disease, nor is there a standard course of treatment. Treatment is symptomatic and supportive and may include medication for movement disorders. The prognosis for those with the severe forms of Pelizaeus-Merzbacher disease is poor, with progressive deterioration until death.

Can leukodystrophy affect the brain?

Leukodystrophies are characterized by this abnormal growth of white matter in the brain. Specifically, these diseases damage the brain’s myelin sheath, which acts as an insulator around nerve fibers in the brain and spinal cord.

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