Alexander's disease. Forms. Diagnostics. Forecast

Alexander's disease is a very rare neurological pathology, which has a progressive nature. The causes of this pathological condition have not yet been identified, but the theory of the mutation of the GFAP gene holds the strongest position. This gene is responsible for the coding of glial fibrillar acidic protein.

There is Alexander's disease sporadically, there is information about frequent family cases of this pathology. The disease is inherited by an autosomal dominant type of inheritance. At the moment, scientists distinguish three varieties of this pathology: adult, adolescent and infant.

The first manifestations of the infant form of the disease begin about when the child turns 6 months old. The main symptoms are pathological head growth, as well as neurological disorders. There are delays in psychomotor and physical development. There are some extrapyramidal disorders, such as chorearthrosis and dystonia. Possible development of spastic tetraparesis. In addition to all this, the child has difficulty swallowing. Occasionally, the patient can see nystagmus, as well as how the eyeballs move involuntarily. Sometimes the patient has apnea. On average, patients live 2-3 years after the first symptoms appear. Diseases of the nervous system in children are very dangerous for an organism not yet strong.

Alexander's disease, which takes place in a youthful form, begins to develop in the period from 4 to 14 years. A retrospective analysis revealed that the primary symptoms are manifested somewhat earlier: before the age of two children are lagging behind in psychomotor development, epilepsy attacks often occur, and tetraparesis is gradually formed, pseudobulbar disorders, frequent apneas are possible. In the majority of patients, macrocephaly is detected, but it can not be placed in line with the characteristic features of this pathology in the infantile period. Often, patients suffer from unexplained attacks of vomiting, especially in the morning. Gradually, there is an increase in pyramidal disorders, such as brain ataxia, convulsions. It is worth noting that the intellectual function is not affected. On MRI, Alexander's disease (pictured below) appears typical changes. Life expectancy is 7-9 years from the moment of appearance of the main symptoms.

The adult form of the disease is very diverse in its clinical manifestations. From the second and to the seventh decade of life, the onset of symptomatology begins. Gradually, patients develop signs of cerebellar involvement, as well as corticospinal tracts. Less commonly, nystagmus and cognitive impairment can be seen.

The main method of diagnosis of this pathological process are MRI, CT, and DNA analysis. Alexander has no specific treatment. Therapy is symptomatic. The prognosis is unfavorable and depends on how quickly the pathology manifests. The earlier this happens, the faster the lethal outcome.