Alexander Disease

Definition

Definition of Alexander Disease
Alexander disease is a slowly progressing and fatal neurodegenerative disease. It is a very rare disorder which results from a genetic mutation and mostly affects infants and children, causing developmental delay and changes in physical characteristics.

Symptoms

Symptoms of Alexander Disease
Signs and symptoms of the infantile form typically include an enlarged brain and head, seizures, stiffness in the arms and 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. Infantile Alexander Disease leads to symptoms in the first two years of life; while some children die in the first year of life, a larger number live to be 5-10 years old. Alexander disease belongs to leukodystrophies, a group of diseases which affect growth or development of the myelin sheath. In Alexander disease, the growth of the white matter of the brain, or myelin sheath, is affected.

Causes

Causes of Alexander Disease
Slowly by stripping the myelin sheath (a protective sheath on your nerves in your brain) the affected person would slowly begin to lose body function and eventually will not be able to talk. There is an over load of long chain fatty acids that one's body cannot dispose of. This does not follow the basic unit of life. (Everything one takes in must be able to be disposed of as waste) This over load of fatty acids will build up in your brain and that is what strips the Myelin Sheath. Categories: Start-Class medicine articlesLow-importance medicine articlesStart-Class medical genetics articlesUnknown-importance medical genetics articlesMedical genetics task force articlesStart-Class neurology articlesMid-importance neurology articlesNeurology task force articles The cause of Alexander disease is a mutation in the gene encoding glial fibrillary acidic protein.

Diagnosis

Diagnosis of Alexander Disease
It is possible to detect the signs of Alexander disease with Magnetic Resonance Imaging, which looks for specific changes in the brain that may be tell-tale signs for the disease. It is even possible to detect adult-onset Alexander disease with MR imaging. Alexander disease may also be revealed by genetic testing for the known cause of Alexander disease. A rough diagnosis may also be made through revealing of clinical symptoms including, enlarged head size, along with radiological studies, and negative tests for other leukodystrophies.

Treatment

Treatment of Alexander Disease
There is currently no cure, or standard procedure taken for treatment. A bone marrow transplant has been attempted on a child, but did not cause the patient's condition to improve.

Prognosis

Prognosis of Alexander Disease
The prognosis is generally poor. With early onset, death usually occurs within 10 years after the onset of symptoms. Usually, the later the disease occurs, the slower its course is.

Prevention

Prevention of Alexander Disease
Consult with your doctor.