Diagnosis For Alexander Disease

In Alexander disease, the destruction of white matter in the brain is accompanied by the formation of fibrous protein deposits called Rosenthal fibers. It is caused by mutations in the gene for glial fibrillary acidic protein (GFAP). The majority of cases are sporadic (not inherited), but there are families in which more than one child will have the disorder. Alexander disease primarily affects males and usually begins at about 6 months of age. It is one of a group of disorders known as the leukodystrophies, diseases that result from imperfect growth or development of the myelin sheath, the fatty covering that acts as an insulator around nerve fibers in the brain. Myelin, which lends its color to the “white matter” of the brain, is a complex substance made up of at least ten different chemicals. Each of the leukodystrophies affects one (and only one) of these substances.


Mental retardation and spastic quadriparesis.
As the disease progresses, it becomes increasingly difficult to feed and manage the child.
Brain of the child grows abnormally large (a condition known as megalencephaly) as the brain and nervous system development of the system becomes very slow leading to brain cortex and spinal cord dysfunction.
Child suffering from this disorder experiences difficulty in walking, speech and also progressive mental deterioration.
A liquid gets deposited in the area between brain and skull which causes pressure on the brain (also known as hydrocephaly).
Loss of consciousness


The doctor may recommend blood and other tests to confirm the disease at the initial stage. Leukodystrophies, radiologic study and MRI scan are few tests which also can help reveal the existence of this disorder.

Unfortunately, this disorder is incurable and till recent time, there was no alternative treatment to lessen the effects of the disease. However, research in past few years has helped in many issues as the gene related to this disorder has been identified, which makes it possible to make partners aware of situation. The only treatment options available are symptom specific and patient needs to be looked after to make his/her life easier.

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