Leukodystrophy or leukoencephalopathy are names given to disorders that affect the white matter of the brain. These disorders are often genetic and sometimes inherited, and can affect more than one person in family.
The white matter of the brain is made up of specialized cells (glia) and a substance called myelin. Myelin and its cells are sometimes simplified to their activities as a support structure or insulation within the brain. In reality, however, myelin and these specialized cells play a large number of roles in the brain, including nutrition, protection against damage, defenses against infection, growth and development, and helping nerve cells do their job.
In leukodystrophies or leukoencephalopathies, these specialized cells and the myelin do not function normally. This may result in very few symptoms, such as some difficulty walking or abnormal movements, in some patients. In other patients, this may result in very severe symptoms, such as stiffness, inability to walk or move, difficulties talking and swallowing, seizures, and in some cases even death.
Often a leukodystrophy is first diagnosed when the patient has an MRI (magnetic resonance imaging study) or CT (computed tomography) of the head. In some cases, the leukodystrophy may be classified right away, and a specific diagnosis is obtained. In other cases, no specific diagnosis is obtained. Often, in these cases, a great number of tests are done without providing a specific diagnosis.