Alexander's disease is a very rare neurological pathology that has a progressive character. The causes of this pathological condition have not yet been identified, but the theory of the GFAP gene mutation holds the strongest position. This gene is responsible for encoding glial fibrillar acidic protein.
Alexander's disease occurs sporadically, there is information about frequent family cases of this pathology. The disease is inherited in an autosomal dominant pattern of inheritance. At the moment, scientists distinguish three varieties of this pathology: adult, youthful and infantile.
The first manifestations of the infantile form of the disease begin around the time the child is 6 months old. The main symptoms can be called pathological growth of the head, as well as neurological disorders. There are delays in psychomotor and physical development. Some extrapyramidal disorders appear, such as chorearthrosis and dystonia. Perhaps the development of spastic tetraparesis. In addition to all this, the child has difficulty swallowing. Rarely, the patient maynotice 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 that is not yet strong.
Alexander's disease, which occurs in a youthful form, begins to develop in the period from 4 to 14 years. A retrospective analysis revealed that the primary symptoms appear somewhat earlier: until the age of two, children lag behind in psychomotor development, seizures of epilepsy are often observed, and tetraparesis is gradually formed, pseudobulbar disorders and frequent apnea attacks are possible. In most patients, macrocephaly is detected, but it cannot be put on a par with the characteristic signs of this pathology in the infantile period. Often patients suffer from inexplicable bouts of vomiting, especially in the morning. Gradually, there is an increase in pyramidal disorders, such as ataxia of the brain, convulsions. It is worth noting that the intelligent function is not affected. On MRI, Alexander's disease (photo below) manifests itself with typical changes. Life expectancy is 7-9 years from the onset of the main symptoms.
The adult form of the disease is very diverse in its clinical manifestations. From the second to the seventh decade of life, the onset of symptoms is noted. Gradually, patients develop signs of damage to the cerebellum, as well as corticospinal tracts. Less common is nystagmus and cognitive impairment.functions.
The main method for diagnosing this pathological process is MRI, CT, and DNA analysis. There is no specific treatment for Alexander's disease. Therapy is symptomatic. The prognosis is poor and depends on how quickly the pathology manifests. The sooner this happens, the sooner the death occurs.
