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Monday, January 29, 2018

Alexander Disease

What is Alexander Disease?
Alexander disease is an uncommon genetic nervous system disorder. It belongs to the category of neurological disorders known as leukodystrophies. These are disorders which occur because of myelin abnormalities and myelin is the “white matter” which protects brain’s nerve fibers. Other Names Clinically Used for Alexander Disease - although it is observed that most commonly used term to describe leukodystrophy is Alexander Disease, you may come across several other names for this disease. Clinically Alexander disease is called as Dysmyelogenic leukodystrophy, Dysmyelogenic leukodystrophy with megalobarencephaly, Dysmyelogenic leukodystrophy – Megalobare, Fibrinoid Leukodystrophy, Fibrinoid Degeneration of Astrocytes, Hyaline Panneuropathy, Leukodystrophy with Rosenthal Fibers, Megalencephaly with Hyaline Panneuropathy, and Megalencephaly with Hyaline Inclusion.     

Symptoms of Alexander Disease

There are various symptoms which can help in the detection of Alexander disease. A patient with this disease may feel physical and mental retardation, his/her head and brain expands, and the person may feel stiffness of legs or arms. The patient of Alexander disease also experiences speech abnormalities, enlarged brain, coordination problems, and difficulty in swallowing. Other symptoms include seizures and degeneration.

The symptoms of this disease also vary in three forms i.e., infantile, juvenile and adult-onset. These three forms of symptoms do not guarantee that the symptoms and severity will be limited to a particular form. Amongst these three forms, the dramatic variation between the symptoms and severity can be witnessed. 

Causes of Alexander Disease
The cause of this disease is genetic and it happens to a person in autosomal dominant way. It means that if someone is affected with this disease, then the child of that person holds 50 percent chances to inherit that disease. The major cause of Alexander disease is a defect in GFAP gene. Here, GFAP means Glial Fibrillary Acidic Protein and its involvement is in cells’ structural development. The studies of this protein’s role in disease and health are still ongoing.

Risk Associated with Alexander Disease
The biggest risk factor associated with Alexander disease is its genetically inherited nature. Some familial cases of Alexander disease when evaluated were found that this disease was more dominant in adult form than juvenile or infantile form.

Complications of Alexander Disease
Many complications occur during the tenure of this disease. If it is diagnosed in an infant, some children die within first year whereas most of them live up to 5-10 years. In case of children between age 4-10 years, the survival sometimes extends but problem in swallowing, vomiting, ataxia, etc. remains all the time. In older patients, besides these symptoms, impaired coordination occurs more often. Usually, death occurs by fifth year after diagnosis.

Diagnosis of Alexander Disease
To check whether a person is affected with Alexander disease or not, a proper diagnosis should be done. In the initial diagnosis phase, your doctor will evaluate the physical symptoms like increased head size, ataxia, mental deterioration, etc. As Alexander disease is a genetically driven disorder, your doctor might ask for the results of some other tests like blood.

Although, the chances are more that the disease will be confirmed after above discussed tests, the doctor may ask for some other tests to be completely sure. The MRI scan and radiologic study will help in precisely diagnosing Alexander disease.

Precautions and prevention of Alexander Disease
When it comes to prevention and precautions of Alexander disease, there is no known preventive measures of Alexander disease. Homeopathy is said to have good effect in improving constitution which can help in prevention of sickness. 

Treatment of Alexander Disease
Till date any cure for Alexander disease is not found. This disease’s treatment is supportive and symptomatic. The patients with Hydrocephaly (a condition where water is found on the brain) may get some partial relief by surgery. In this surgery, a shunt is used to drain away some quantity of the fluid which reduces the pressure on brain. An experiment was done on a child where bone marrow was transplanted but that transplantation didn’t produced any improvement.

Homeopathic Treatment of Alexander Disease
When it comes to treatment of Alexander disease, it is found that Homeopathy can provide some relief because the safest and natural treatment of all neurological disorders is Homeopathy. In a Homeopathic treatment, a person is treated completely. It simply means that in a Homeopathic treatment, a patient is treated on the basis of physical as well as pathological condition.
Through homeopathic treatment, the energy system of person is balanced, immunity is improved and body performs precisely. The disorder’s root cause is cured naturally. Some of the commonly used homeopathic medicines for treating Alexander disease are Hellab, Bar M, Mygal, Bufo and Lath.

Allopathic Treatment of Alexander Disease
In case of allopathic or conventional treatment of Alexander disease, the treatment includes antibiotic therapy for removal of infections. The associated complications can also be managed with it and seizures are treated with anti-epileptic drug therapy.

Alexander Disease’s Scientific Research
This disease is rare and any real prevalence data has not been reported. From the time of first affected person, the reported cases are more than 550. In 293 individuals, GFAP pathogenic variants were confirmed. It is believed that this disorder occurs in racial and ethnic groups. When it was discovered in 2001 that Alexander disease is genetic based, it was considered a great achievement. Since than many methods came into existence to diagnose this disease and at present, the biopsy is not required anymore. The combined results from DNA analysis and MRI pattern helps to diagnose the disease in a better way.

Both the parents should undergo DNA test and if both of them are found normal, the child is sporadic. The other children in the family or other family members can be freed from the suspicion of disease carriers. In case one of the parent is the carrier of disease, then other members in the family remains at risk and should be screened. This also helps the diseased parents to decide whether to have children or not.  The animal models of this disease (in zebrafish and mice) are developed to properly study the GFAP’s role in Alexander disease. There is a hope that the results of these studies will help in developing potential treatments which can further be tested during clinical trials.
      
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