Madisons Foundation - Moms And Dads In Search Of Needed Support

What

Alexander disease is a rare, progressive neurological disorder caused by destruction of nerve fibers in the brain leading to seizures, spasticity (muscle stiffness), and mental retardation. Alexander disease is one of a group of disorders known as the leukodystrophies.

Who

Children with Alexander disease are generally first diagnosed in early infancy but there are cases arising in late childhood and early adulthood. Boys are more commonly affected and there is no known racial preference. The frequency of this disease is not fully known.

Signs and Symptoms

Children with infantile Alexander disease usually have the following: • Failure to grow normally • Mental and physical retardation • Macrocephaly (enlarged head) • Increased muscle stiffness and tone • Worsening clumsiness • Loss of normal childhood developmental milestones • Uncontrollable seizures.

Possible Causes

Alexander disease is caused by the destruction of white matter, or myelin sheaths, which are the fatty coverings that act as an insulator around nerve fibers in the brain. The destruction occurs due to a defect in the production of the protein known as glial fibrillary acidic protein (GFAP). 90% of children with Alexander disease have a defect in the GFAP gene that more commonly arises spontaneously rather than being inherited from a parent. Children who acquire the inherited form do so by inheriting only 1 defective gene from either parent.

Diagnosis

There are no specific blood tests that can be used to diagnose Alexander disease. Molecular genetic testing can be performed in conjunction with a MRI (magnetic resonance imaging) scan of the brain to confirm the diagnosis. Prior to current DNA based testing methods, the diagnosis was made by looking for specific protein deposits known as Rosenthal fibers on brain biopsy. To perform this test, a small piece of the brain needed to be removed in a surgical procedure. If your child is having seizures, your doctor may also order an electroencephalogram (EEG) to study the brain’s electrical activity.

Treatment

There is unfortunately no specific cure available for children with Alexander disease. The focus of care is on assuring adequate nutritional intake, controlling any seizures with medications, and providing antibiotics for any infections.

Prognosis

Alexander disease has a poor prognosis and most children who are affected in early infancy do not survive beyond early childhood. Children who are diagnosed later in childhood have a slower, more prolonged course.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.

Weblinks

National Institute of Neurological Disorders and Stroke
National organization for families affected by this disorder.

The Waisman Center
Very reliable information and starting point for this rare disease.

United Leukodystrophy Foundation
National organization centered around building awareness.

University of Alabama Health Sciences
Resources for parents and families.

Contact a family
for parents of disabled children to meet and communicate.

Orphanet
Good reference for computer savvy parents.

Google Search for Alexander Disease

References and Sources

Johnston, MV, (2004) Neurodegeneratvie Disorders of Childhood. In: Behrman RE, Kliegman RM, Jenson HB (eds) Nelson Textbook of Pediatrics, 17th ed. WB Saunders, p 2034.