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Find your community on the free RareGuru App.Alexander disease is a type of leukodystrophy characterized by the destruction of the myelin sheath (the fatty covering that acts as an insulator around nerve fiber) and abnormal protein deposits known as Rosenthal fibers. Most cases of Alexander disease begin before age 2 years (the infantile form). Symptoms of the infantile form include an enlarged brain and head, seizures, stiffness in the arms and/or legs, mental retardation, and delayed physical development. Less frequently, onset occurs later in childhood (the juvenile form) or adulthood. Common problems in juvenile and adult forms of Alexander disease include speech abnormalities, swallowing difficulties, and poor coordination. Alexander disease is caused by mutations in the GFAP gene. While this condition is inherited in an autosomal dominant fashion, most cases result from new mutations in the gene.
Source: GARD Last updated on 05-01-20
The symptoms of Alexander disease vary depending on the form of the condition (neonatal, infantile, juvenile, and adult). Even within the different forms there may be huge differences in respect to symptoms and severity:
The United Leukodystrophy Foundation provides additional details related to the symptoms of this condition.
Last updated on 05-01-20
The disease is caused by changes (mutations in the GFAP gene in about 90% of cases. This gene provides the instructions for making a protein called glial fibrillary acidic protein (GFAP). GFAP is a normal part of the brain, but it is not clear how mutations in the gene cause the disease. In most cases, the mutations are new in the family ( de novo ) and are not inherited from the parents. A small number of people who are thought to have Alexander disease are not found to have a mutation in the GFAP gene, which suggests that there may be other causes of Alexander disease that have yet to be identified.
Last updated on 05-01-20
The prognosis for individuals with Alexander disease is generally poor and typically depends of the specific form. People with the neonatal form usually have the worst prognosis. Most children with the infantile form do not survive past the age of 6. The juvenile and adult forms of the disorder have a slower, more lengthy course. The adult form varies greatly and, in some cases, there are no symptoms.
Last updated on 05-01-20
No specific therapy is currently available for Alexander disease. Management is supportive and includes attention to general care, physical and occupational therapy, nutritional requirements, antibiotic treatment for any infection, and antiepileptic drugs (AED) for seizure control.
Physical and occupational therapy and speech therapy may be recommended depending on the specific signs and symptoms present. Physical and occupational therapy may be indicated in people with developmental and language delays.
Last updated on 05-01-20
Johnson CP, Kastner TA. Helping families raise children with special health care needs at home. Pediatrics. 2005; 115(2):507-511.
Last updated on 04-27-20
The United Leukodystrophy Foundation has developed an information page on Alexander disease. Click on the link above to view this information page.
Last updated on 04-27-20
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