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About dysmyelogenic leukodystrophy

What is dysmyelogenic leukodystrophy?

Alexander disease is named after the physician who first described the condition in 1949 (WS Alexander). It is an extremely rare, usually progressive and fatal, neurological disorder. Initially, it was detected most often during infancy or early childhood, but as better diagnostic tools have become available has been found to occur with similar frequency at all stages of life. Alexander disease has historically been included among the leukodystrophies--diseases of the white matter of the brain. These diseases affect the fatty material (myelin) that forms an insulating wrapping (sheath) around certain nerve fibres (axons). Myelin enables the efficient transmission of nerve impulses and provides the "whitish" appearance of the so-called white matter of the brain. There is a marked deficit in myelin formation in most early-onset cases of Alexander disease, and sometimes in later onset cases, particularly in the front (frontal lobes) of the brain's two hemispheres (cerebrum). However, white matter defects are sometimes not observed in later onset cases. Instead, the unifying feature among all Alexander disease cases is the presence of abnormal protein aggregates known as "Rosenthal fibers" throughout certain regions of the brain and spinal cord (central nervous system [CNS]). These aggregates occur in astrocytes, a particular cell type in the CNS that helps maintain a normal CNS environment. Accordingly, it is more appropriate to consider Alexander disease a disease of astrocytes (an astrogliopathy) than a white matter disease (leukodystrophy).

What are the symptoms for dysmyelogenic leukodystrophy?

The one thing all leukodystrophies have in common is they cause abnormal development or destruction of the brain’s myelin sheath. That’s the white fatty matter that protects the brain’s nerves. Without it, your nervous system can’t function properly.

But each leukodystrophy affects myelin differently. That means children can have many problems, including:

  • Balance and mobility problems
  • Behavioral and learning disabilities
  • Bladder issues
  • Breathing difficulties
  • Developmental delays
  • Hearing, speech, and vision problems
  • Muscle control disorders
  • Seizures

What are the causes for dysmyelogenic leukodystrophy?

Most of the leukodystrophies are inherited, which means they’re passed down through family genes. Some may not be inherited, but are still caused by a genetic mutation. One child in your family could have leukodystrophy, and others might not.

What are the treatments for dysmyelogenic leukodystrophy?

There is no cure for most kinds of leukodystrophy. Treating it depends on the type, and doctors address the symptoms of the disease with medications and special kinds of physical, occupational, and speech therapy. Some people may need additional help with learning or nutrition.

In some cases, a bone marrow transplant can help by slowing or stopping the progression of the disease. Scientists are also researching whether gene therapy or replacing certain enzymes can help treat some kinds of leukodystrophy.

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