Alexander's disease: why there is and how a rare nervous anomaly manifests

One of the most poorly studied pathologies today is Alexander's disease. This is an extremely rare neurological disease, characterized by a progressive nature. The first symptoms of this anomaly are often observed already in the first year of life of the baby.

General information

The causes of this pathological condition, which was first mentioned in the late forties of the twentieth century, are still a puzzle for doctors. Many researchers believe that the main provocateur of the disease is the mutation of the gene GFAP, which is responsible for all processes occurring with fibrillar glial acidic protein.

Some physicians believe that the disease is inherited, since in history there are many cases when several family members suffer from its manifestations.

The main types of the disease

Specialists identify the following types of this pathological condition:

1. Infant.
2. Youth.
3. Adult.

Predominantly, Alexander's disease is diagnosed in very young children aged six to twelve months.

The main signs of the pathology of

The main signs that indicate the progression of Alexander's disease should be considered:

• abnormal body temperature increase;
• prolonged convulsive attacks;
• muscle hypotension;
• appearance of pyramid signs;
• hydrocephalus.

Another specific symptom is the delay in the intellectual development of the child.

Features of the manifestation of the disease

In young children, adolescents and adults, Alexander's disease manifests itself in different ways. It is important to understand that the disease progresses rapidly, often ending with the death of the patient.

Pediatric symptomatology

Infant form of Alexander's disease can be felt when the child turns six months old. The main symptoms are neurological anomalies. Also, the anomalous growth of the baby's head should take care of itself. There is a significant delay in the physical and psychomotor development of the child. Sometimes a specialist diagnoses the presence of dystonia and chorearthrosis.

Nonspecific symptom is difficulty swallowing. Given that this symptom may also indicate the occurrence of other pathologies, you should not hesitate to visit a child's doctor.

Another sign is the involuntary movement of the eyeballs.

For the infant form is characterized by a catastrophic course. On average, children with this diagnosis live no more than two to three years.

Juvenile symptomatology

Teenage form of Alexander's disease can begin to manifest itself when the child reaches four or fourteen years of age. Of course, the primary signs of the disease manifest much earlier. Thus, children who develop this disease, before reaching the age of 2, are characterized by a weak psychomotor development. Often, babies suffer from epileptic seizures. Over time, they are progressing:

1. Tetraparesis.
2. Seizures of apnea.
3. Pseudobulbar seizures.

Macrocephaly should be considered a nonspecific sign.

Other signs of the disease include irrational emetic seizures, which most often torment children in the morning. With the passage of time, pyramidal disorders increase, and the child increasingly scares his parents with frequent convulsive contractions. But the intellectual function is not affected.

The average life expectancy of a sick child since the appearance of the main signs is seven to nine years.

Symptoms in adults

The adult form of Alexander's disease is surprisingly varied. Initial signs are manifested approximately from the 2-9th decade of human life. Over time, the patient exhibits symptoms of an abnormal process in the cerebellum. Slightly less notice is the presence of a violation of cognitive functioning, as well as nystagmus.

In contrast to the rapidly advancing childhood and youth forms, the disease in adults is slightly slower. Quite often there are remission periods.

Methods for diagnosing anomaly

The key diagnostic method is magnetic resonance therapy. Also, the disease can be diagnosed by computed tomography. DNA analysis also plays a role. With magnetic resonance therapy, the disease manifests itself by standard changes.

At last

Unfortunately, there is no specific healing therapy that allows to cure Alexander's disease. Most experts in the field of medicine resort to symptomatic treatment.

Basically, the forecast is unfavorable. However, everything depends on how fast the pathological condition progresses, and also on how quickly it was diagnosed. Unfortunately, in most cases, the disease ends with the death of both a young and an adult patient.

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