Alexander disease is a type of leukodystrophy. It is characterized by the destruction of white matter in the brain and abnormal protein deposits known as Rosenthal fibers. This is a rare and fatal neurologic disorder!
Symptoms:
Juvenile Alexander Disease is characterized by difficulty with talking and swallowing and the inability to cough. There can also be weakness and spasticity of the extremities, particularly the legs. The course of the disease may involve signs of swallowing or speech difficulty, vomiting, ataxia, and/or spasticity. Kyophoscoliosis can occur. Mental function often slowly declines.
Testing/Diagnosis:
Because the genetic defect in Alexander disease is known, genetic testing on a blood sample can be used to diagnose most cases of Alexander Disease. A suggestive diagnosis can also be made from the clinical symptoms, including enlarged head size, combined with radiological studies and negative tests for other leukodystrophies. MRIs often reveal a characteristic pattern.
Treatment:
The treatment for Alexander disease is symptomatic and supportive.
Resources:
http://ulf.org/alexander-disease
https://www.facebook.com/groups/Leukodystrophy/
Contributed by MOM Virginia Jimenez
