Alexander disease is commonly defined as a rare disorder of the nervous system. It belongs to a group of diseases called leukodystrophies that involve the destruction of myelin. Myelin is the fat layer that insulates nerve fibers and promotes rapid transmission of nerve impulses.
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If myelin is not maintained properly, transmission of nerve impulses could be interrupted. When myelin gets worse in leukodystrophies such as Alexander disease, the functions of the nervous system are impaired.
Most cases of this disease before the age 2 and are described as an infantile form. The signs and symptoms of the infant form usually include an increase in brain and head size (megalencephaly), seizures, stiffness in the arms and/or legs (spasticity), mental retardation and developmental delay.
Less often, the onset occurs later in childhood (juvenile form) or in adulthood. The common problems associated with this disease in adults are language abnormalities, difficulty swallowing, convulsions and poor coordination (ataxia).
In rare cases, a neonatal form of the disease occurs during the first month of life and is associated with severe mental retardation and developmental delay, fluid accumulation in the brain (hydrocephalus), and convulsions.
This disease is also characterized by abnormal deposits of proteins called Rosenthal fibers. These deposits are located in specialized cells called astroglial cells, which support and nourish other cells in the brain and spinal cord (central nervous system).
What are the Symptoms of Alexander Disease?
There are several symptoms of Alexander disease including;
- Increase in the brain size
- increase in the head size (megalencephaly)
- Stiffness in the arms and/or legs (spasticity)
- Mental retardation
- Developmental delay
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What are the Causes of Alexander Disease?
The main cause of the disease is mutations in the GFAP gene. The GFAP gene helps in giving the instructions for making a protein called glial fibrillary acidic protein. Several molecules of glial fibrillary acidic protein bind together to form intermediate filaments, which provide strength and support to cells.
What is the Process of Diagnosing Alexander Disease?
Well, from so many years, the brain biopsy is used in the diagnosing process to determine the presence of Rosenthal fibers which is required for the diagnosis of the disease. However, even this procedure can be difficult, because Rosenthal fibers are also found in certain other disorders like astrocytes tumors. More recently, MRI (magnetic resonance imaging) criteria have been developed for diagnosing typical Type I stage disease.
What are the Treatments for Alexander Disease?
Yet, no specific therapy is available for the disease. Moreover, management is supportive and includes attention to general care, occupational therapy, physical therapy, nutritional requirements, antiepileptic drugs (AED) for seizure control.
Physical, occupational therapy and speech therapy may be recommended by the doctor depending on the specific symptoms present in a patient.
Alexander disease is related to the rare disorder of the nervous system, might seems a very dangerous disease. But proper care and diagnosis make the treatment possible for people living with Alexander disease.
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