Not many people know what diseases of the nervous system exist and what exactly they are characterized by. However, many of them are very difficult and lead to irreversible consequences. These include Batten's disease, which progresses rapidly and affects the cells of the brain, skin, eyes and other organs.
This pathology is genetic, it has severe symptoms and rather dangerous consequences, leading to the death of the patient.
Features of the disease
Batten's disease is considered the most common form of a rare disorder better known as waxy neuronal lipofuscinosis (NLL). This is a hereditary genetic disease that can be triggered by an increase in lipopigments in body tissues.
The disease refers to the initial form of neural waxy lipofuscinosis. Among the main forms of Batten's disease areare:
- newborn lipofuscinosis;
- late infantile form of NIV;
- children;
- adult form of NVL.
Early symptoms of this disease generally begin to appear between the ages of 5 and 10 years, when parents notice that a perfectly he althy child has sudden seizures or deterioration in vision.
In some cases, the signs of the course of the disease are rather non-specific, they appear in the form of stumbling, slowness or clumsiness. Over time, children become blind, lose their intelligence and become bedridden. The disease mostly ends in death in adolescence. Some patients live up to 20 years.
Main reasons
Batten's disease is caused by abnormalities in the genes associated with the production of certain body proteins. The disease leads to a gradual accumulation of fats and proteins in the cells of the eyes, brain, and skin.
Scientists were able to identify defective enzymes in mutated genes, which makes it possible to identify the course of the pathology at the initial stage and carry out treatment. In addition, it is essential in prevention.
There are certain risk factors that greatly increase the likelihood of developing the disease. These include a genetic predisposition. In addition, children of those parents who themselves do not get sick, but are carriers of the defective gene, suffer from the disease.
Main symptoms
Symptoms of nervous system disease include:
- vision lossand blindness;
- impaired mental function and mental deficiency;
- problems with the muscular system;
- convulsions;
- emotional disturbances;
- cramps;
- impaired muscle tone;
- motion problems.
Signs of the course of the disease are similar in all its forms. However, the time of their appearance, the severity of the course and the rate of progression are somewhat different. So, with lipofuscinosis of newborns, symptoms begin to appear in a baby from 6 months to 2 years. The pathology progresses quite rapidly. Children with these characteristics generally live less than 5 years, although some live several years longer.
The late infantile form begins to develop in babies at 2-4 years old and also progresses rapidly. Such children generally live up to 8-12 years. In the childhood form of Batten's disease, symptoms begin to appear at the age of 5-8 years, they do not progress very quickly. Patients survive mostly into their teens or 20s, and sometimes into their 30s.
When the adult form of the disease occurs, the first signs appear mainly at the age of 40. Symptoms grow rather slowly, and most often they are expressed more mildly. However, this form of the disease greatly shortens a person's lifespan.
Diagnostics
Diagnosis of diseases of the nervous system causes certain difficulties, since their symptoms are often similar to manifestations of other pathological processes in the body. The initial diagnosis is establishedwhen examining the fundus. To confirm the diagnosis, the following are prescribed:
- blood test;
- urinalysis;
- tissue biopsy.
To determine the presence of brain anomalies, certain types of studies are also required:
- MRI scan;
- computed tomography;
- electroencephalography.
To confirm the diagnosis, electrophysiological research methods are prescribed so that existing vision problems associated with the course of Batten's disease can be detected. To identify abnormalities that provoke the disease, a DNA test is prescribed.
Cure disease
Unfortunately, there are no treatments for Batten's disease that would be able to stop the progression or development of complications. Therapy is mainly aimed at reducing the existing symptoms. For patients who are prone to seizures, anticonvulsants may be prescribed to help control the seizures.
In addition, occupational therapy and exercise can help patients continue to function for a longer period. One of the methods of experimental therapy will be the intake of vitamins E and C in combination with dietary nutrition. This may slow the development of disease in children, however, there is absolutely no evidence that the progression of the disease will stop. Before applying such methods of therapy, be sure to consult a doctor.
Cerliponase alfa is now widely used. This drug is indicated for children under the age of 3 years, as well as for the treatment of later forms of the disease, which progress very slowly. Anticonvulsants are prescribed to reduce the severity of seizures and their frequency.
The doctor individually selects a drug to eliminate the existing symptoms that occur as the disease progresses. Recently, stem cells have been widely used for therapy, but this technique is still at the testing stage.
The support of relatives is of great importance during treatment, as it helps the patient to some extent cope with a deep disability.
Disease prognosis
People suffering from Batten's disease can become completely blind, bedridden and unable to move. Basically, pathology leads to death, and greatly reduces life expectancy. However, with the right therapy, some patients live up to 30 years.
Prophylaxis
There are no known methods of prophylaxis that would help prevent the development of Batten's disease. In the presence of this disease or defective genes in a person, it is imperative to consult a geneticist regarding the decision to have children.
Batten's disease is a complex and very dangerous pathology, as the disease provokesthe development of many complications and ultimately leads to the death of the patient.
