What is Alexander sickness?
Alexander disease is a rare disorder of the nervous system. It is one of a group of disorders, called leukodystrophies, that involve the destruction of myelin. Myelin is the fatty covering that insulates nerve fibers and promotes the rapid transmission of nerve impulses.
Is the Alexander disease fatal?
Alexander disease is a progressive and often fatal disease. There is no cure for Alexander disease, nor is there a standard course of treatment. Treatment of Alexander disease is symptomatic and supportive. The prognosis for individuals with Alexander disease is generally poor.
What triggers leukodystrophy?
What causes leukodystrophy? Leukodystrophy is the result of changes (mutations) to genes. These genes control the growth or function of myelin. Without this protective covering, nerve cells don’t work correctly. Most leukodystrophies come from parents passing the genes to their children (inherited).
How is Alexander’s disease diagnosed?
Diagnosis of Alexander disease is made based on the physical symptoms, imaging of the brain and the results of genetic tests. Magnetic resonance imaging (MRI) of the brain is a key diagnostic tool, as it can detect patterns in brain tissue that are characteristic of Alexander disease.
Did Alexander have seizures?
None of his other illnesses involved seizures. Clearly, Alexander the Great did not have epilepsy and his name should be removed from the list of famous individuals who have had seizures.
How is Alexander disease diagnosed?
What type of mutation causes Alexander disease?
About 95% of Alexander disease cases are caused by mutations in a gene called GFAP for a structural protein called glial fibrillary acidic protein that is found exclusively in astrocytes in the CNS. The cause of the other 5% of cases is not known. The GFAP mutations are dominant.
Is leukodystrophy painful?
Symptoms of metachromatic leukodystrophy may include seizures, personality changes, spasticity, progressive dementia, painful paresthesias, motor disturbances progressing to paralysis, and/or visual impairment leading to blindness.
What is William’s Syndrome?
Williams syndrome, also known as Williams-Beuren syndrome, is a rare genetic disorder characterized by growth delays before and after birth (prenatal and postnatal growth retardation), short stature, a varying degree of mental deficiency, and distinctive facial features that typically become more pronounced with age.
Is Alexander the Great epileptic?
How does Alexander disease affect the nervous system?
Alexander disease is a very rare disorder of the nervous system. Normally, nerve fibers are covered by a fatty layer, called myelin. Myelin protects the nerve fibers and helps them transmit impulses. In Alexander disease, myelin is destroyed. This means that the transmission of nerve impulses is disrupted,…
Is there a cure or treatment for Alexander disease?
Currently, there’s no cure for Alexander disease. Only the symptoms can be treated. Since there’s no specific therapy available for the condition, caregivers aim to manage the disease supportively. Particular attention is given to: overall care. occupational and physical therapy. nutritional needs. speech therapy.
When does myelin deteriorate in Alexander disease?
As myelin deteriorates in leukodystrophies such as Alexander disease, nervous system functions are impaired. Most cases of Alexander disease begin before age 2 and are described as the infantile form.
When is Alexander disease most likely to be detected?
Initially it was detected most often during infancy or early childhood, but as better diagnostic tools have become available has been found to occur with similar frequency at all stages of life. Alexander disease has historically been included among the leukodystrophies–diseases of the white matter of the brain.