Alexander disease is a nervous system disorder that destroys myelin, which aids in the rapid transmission of electrical impulses. It can occur in infancy, childhood, or adulthood and is caused by a mutation in the GFAP gene. There is no cure, and treatment only manages symptoms.
Alexander disease is a nervous system disorder that can disrupt nervous system functions. This disease is one of a group of disorders called leukodystrophies that destroy myelin, which are fibers that coat and insulate neutrons. Myelin also aids in the rapid transmission of electrical impulses, what the brain uses to tell the rest of the body to move and function. Without myelin, impulses can stop or be interrupted.
There are several forms of Alexander’s disease. The infantile form is the most common and occurs before a person is two years old. Signs of the infantile form include an enlarged head and brain, also called megalencephaly, and seizures. Spasticity or stiffness in the arms, legs, or both may also occur. Alexander disease in childhood can also cause intellectual disability and delay mental development.
Alexander disease can also occur later in life, in childhood or adulthood. Symptoms of juvenile and adult forms include swallowing problems, seizures and poor coordination, also called ataxia. If Alexander disease affects a baby within the first month of life, it is the neonatal form. Symptoms of the neonatal form include intellectual disability, seizures, and hydrocephalus, which is the accumulation of fluid in the brain. The neonatal form is the rarest form of Alexander disease.
Alexander disease is caused by mutation in the glial fibrillary acid protein (GFAP) gene. GFAP is a part of the intermedia family of proteins that form networks and support and strengthen cells. It is usually not inherited from parents. A person can develop a gene mutation without any family history.
This disease occurs as an autosomal dominant pattern, meaning that only a mutation of one copy of the GFAP gene is required for a person to get the disease. Each person has two copies of each gene on their chromosomes, and the gene can say something a little different. When information about genes is put together, a person’s trait, such as eye color, is determined. With an autosomal dominant pattern, the information in question need only be that about the gene for the person to inherit that particular trait. This means that only one of two copies of GFAP can be mutated for the person to develop the disease.
There is no cure for Alexander disease, nor is there an agreed-upon method of treating the disease. Doctors are only able to treat a patient’s symptoms. This means that although a doctor may prescribe therapies and medicines to treat seizures and spasticity, the disease will still remain. Research is being done to learn how to treat and cure this disease and other similar leukodystrophies.
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