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 rapidly progresses and affects cells of the brain, skin, eyes and other organs.
This pathology is genetic, it has pronounced symptoms and rather dangerous consequences, leading to the death of the patient.
Features of the disease
Butten's disease is considered the most common form of rare disorders, more commonly known as waxy neuronal lipofuscinosis (NVL). This is a hereditary genetic disease that can be triggered by an increase in lipopigments in the tissues of the body.
The disease refers to the initial form of neural waxy lipofuscinosis. Among the main forms of Batten’s disease are the following:
- lipofuscinosis of the newborn;
- late infantile form of NVL;
- children’s;
- adult form of NVL.
The early symptoms of this disease mainly begin to appear at the age of 5-10 years, when parents notice that in a completely healthy child, cramps sharply begin or vision deteriorates.
In some cases, the signs of the course of the disease are rather nonspecific, they appear in the form of stumbling, slowness or awkwardness. Over time, children go blind, lose their intelligence and become bedridden. The disease generally ends in death in adolescence. Some patients live up to 20 years.
Main reasons
Butten's disease is provoked by disorders in the genes associated with the production of certain body proteins. The disease leads to the gradual accumulation of fats and proteins in the cells of the eyes, brain, and skin.
Scientists were able to identify defective enzymes in the mutated genes, which allows to identify the course of pathology at the initial stage and conduct treatment. In addition, it is important in prevention.
There are certain risk factors that significantly increase the likelihood of developing a disease. These include a genetic predisposition. In addition, the children of those parents who do not get sick themselves, but who are carriers of the defective gene, suffer from the disease.
Main symptoms
Symptoms of a nervous system disease include:
- loss of vision and blindness;
- weakening of mental function and mental failure;
- problems with the muscular system;
- cramps
- emotional disturbances;
- cramping
- violation of muscle tone;
- problems with movements.
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, the symptoms begin to appear in the baby from 6 months to 2 years. Pathology progresses quite quickly. Children with these symptoms mostly 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 is also rapidly progressing. Such children mainly 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 live mainly until adolescence or up to 20 years, and sometimes up to 30.
With the onset of an adult form of the disease, the first signs appear mainly in 40 years. Symptoms increase rather slowly, and most often it is expressed more gently. However, this form of the disease significantly reduces a person’s life expectancy.
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 established when examining the fundus. To confirm the diagnosis are assigned:
- blood analysis;
- Analysis of urine;
- tissue biopsy.
To determine the presence of brain abnormalities, certain types of studies are required:
- MRI scan
- CT scan;
- electroencephalography.
To confirm the diagnosis, electrophysiological research methods are prescribed so that it is possible to detect existing vision problems associated with the course of Batten's disease. To identify abnormalities that provoke the disease, a DNA test is prescribed.
Disease treatment
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 so that seizures can be controlled.
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 diet. This can slow the development of diseases in children, however, there is absolutely no evidence that the progression of the disease will stop. Before applying such methods of therapy, it is necessary to consult a doctor.
Now the drug "Cerliponase alpha" is widely used. This drug is prescribed for children aged 3 years, as well as for the treatment of later forms of the disease, which progress very slowly. To reduce the severity of seizures and their frequency, anticonvulsants are prescribed.
The doctor individually selects a drug to eliminate existing signs that occur as the disease progresses. Recently, stem cells have been widely used for therapy, however, a similar technique is still in the testing phase.
The support of relatives is of great importance during the treatment, as this 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 is fatal, 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 humans, it is necessary to consult with a geneticist regarding the decision to have children.
Butten's disease refers to complex and very dangerous pathologies, since the disease provokes the development of many complications and ultimately leads to the death of the patient.