Leukodystrophy: Abnormalities in the White Matter of the Brain

By Jody Smith HERWriter

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Leukodystrophy is a disease that involves the deterioration of white matter (myelin) in the brain. "Leuko-" means "white". "Dystrophy" refers to abnormal development.

The role of myelin is to insulate axons. An axon is part of a neuron (nerve cell). It transmits the brain's signals through the body.

When this process malfunctions, serious damage affecting the body in far-reaching ways is the result. This deterioration is called "dysmyelination".

The myelin sheath is the fatty covering for nerve fiber, which insulates the fiber. Dysmyelination hampers the healthy development of this sheath.

There are many types of leukodystrophy. Each of them stems from a genetic abnormality affecting one of the ten or more chemicals found in myelin.

Here is a summary of symptoms for some of these types.

Adrenoleukodystrophy (ALD) causes neurological decline, seizures, loss of muscle control (ataxia) and Addison's disease (impaired adrenal glands) as well as vision and hearing loss. Adrenomyelopathy is the adult form of ALD.

Alexander disease causes enlargement of the head (macrocephaly), excess fluid in the brain (hydrocephalus), seizures and dementia.

Canavan disease involves poor muscle tone, decreasing motor abilities, problems eating and mental retardation.

Cerebrotendinous xanthomatosis causes brittle bones that fracture easily as well as neurological abnormalities, ataxia and speech problems (dysarthria).

Childhood ataxia with central nervous system hypomyelination (CACH) is also known as vanishing white matter disease. Its hallmarks are neurological damage, ataxia and involuntary tightening of the muscles (spacisity).

Krabbé disease has symptoms similar to cerebral palsy. Metachromatic leukodystrophy involves dementia, muscle wasting, paralysis and vision loss.

Pelizaeus-Merzbacher disease affects mental and motor abilities. Refsum disease brings on neurological damage, and numbness, tingling and burning sensations in the extremities (peripheral neuropathy).

Most leukodystrophies are passed on genetically. Most appear in infancy or childhood though some emerge later in life.

The usual course is a gradual loss of the ability to speak, to eat and to walk. Muscle tone and movement, as well as vision and hearing, diminish. A child's behavior may become more immature as time goes on, as they lose ground both mentally and physically.

Treatment of symptoms will vary depending on the type of leukodystrophy. Possible treatments include education and medication, as well as occupational therapy, physical therapy and speech therapy. Programs are available that focus on nutrition and recreation.

Research into the possibility of bone marrow transplantation, and also the possibility of enzyme replacement for some types of leukodystrophy, is ongoing.

Resources

Metachromatic Leukodystrophy, MLD
http://themedicalbiochemistrypage.org/mld.html

What is Leukodystrophy?
http://www.news-medical.net/health/What-is-Leukodystrophy.aspx

NINDS Leukodystrophy Information Page
http://www.ninds.nih.gov/disorders/leukodystrophy/leukodystrophy.htm

Langone Medical Center: Leukodystrophy
http://www.med.nyu.edu/conditions-we-treat/conditions/leukodystrophy

Visit Jody's website and blog at http://www.ncubator.ca and http://ncubator.ca/blogger

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We value and respect our HERWriters' experiences, but everyone is different. Many of our writers are speaking from personal experience, and what's worked for them may not work for you. Their articles are not a substitute for medical advice, although we hope you can gain knowledge from their insight.