Alexander's disease is very rareneurological 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.
Alexander's disease develops 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 diseasebegin approximately 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 involuntarily move. 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, taking place in the youthform, 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. The majority of patients are diagnosed with macrocephaly, but it can not be placed in line with the characteristic signs 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) is manifested by typical changes. Life expectancy is 7-9 years after the onset of major symptoms.
Very diverse in its clinicalmanifestations of the adult form of the disease. 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 diagnosing thispathological process are MRI, CT, and DNA analysis. Alexander has no specific illness. Therapy is symptomatic. The prognosis is unfavorable and depends on how quickly the pathology manifests. The earlier this happens, the faster the lethal outcome.
