Today, hereditary diseases of the nervous system are not so often diagnosed in medicine. One of them is Unferricht-Lundborg disease, or myoclonus epilepsy. This pathology has a progressive course, leading to dementia of a person. This is due to a defect in the synthesis of mucopolysaccharides and the development of degenerative changes in the cerebellum, cerebral cortex and optic tubercle.
The disease is rare and is diagnosed in one patient out of a hundred thousand. Treatment of the pathology is only symptomatic, it often leads to disability. It is important to make an accurate diagnosis in a timely manner and prescribe therapy that will slow the progression of the disease.
Description and description of the problem
Myoclonus epilepsy is a degenerative disease of the nervous system of a hereditary nature, which is characterized by a sudden contraction of certain muscle groups, epileptic seizures and a progressive course. The disease is transmitted in an autosomal recessive manner and is associated with a gene mutation in the 21st chromosome.
Pathology begins to appear at the age of six to fifteen years in the form of epileptic seizures in combination with nocturnal myoclonia. Then muscle contractions are observed on the limbs, on the trunk, this leads to problems with self-care, there is a disorder of swallowing, walking. The disease is most often manifested as a result of exposure to a strong sensory stimulus, for example, a bright flash of light, a sharp sound, etc. In this case, a person develops an attack that may be accompanied by loss of consciousness. At a late stage of development, pathology is manifested by symptoms of cerebellar ataxia, mental disorders, dementia.
With pathology, changes are observed in the nuclei of the thalamus, lower olives and the substantia nigra. This is manifested in a decrease in the number of neurons and the detection in their cytoplasm of specific amyloid formations - Lafor’s bodies, which consist of polyglucosan. These bodies are also found in the cells of the heart, liver, spinal cord and other organs.
Thus, myoclonus epilepsy is a genetic disease that has increasing symptoms in the form of myoclonus, epileptic seizures, and cognitive impairment. All these signs are observed in combination with each other.
The pathology was first discussed in 1891, when it was discovered by the German neurologist G. Unferriht, and then in 1903 by G. Lunborg. Therefore, progressive myoclonus epilepsy is also called Unferricht-Lundborg disease.
Most of the disease is diagnosed in southern France, Spain and the Balkans, as well as in North Africa. Pathology affects people of different sexes. Usually it manifests itself in childhood or adolescence.
Causes of the disease
The main cause of myoclonus epilepsy is a mutation of the CSTB gene on chromosome 21. Presumably, its defect leads to a disorder of metabolic processes in nerve cells, which causes the development of the disease.
This pathology is different in that only the central nervous system cells are affected, it does not affect the muscles.
In most cases, pathology is caused by a strong increase in the number of copies of repeating sections in the gene region. Normally, a healthy person has a maximum of three copies; in a patient with this disease, the number of copies reaches 90.
Genetic variants of the disease
In medicine, it is customary to distinguish several pathology options:
- An autosomal recessive inherited disease that is accompanied by intracerebral accumulation of mucopolysaccharides.
- A progressive pathology with different stages of inheritance, which is characterized by damage to the cerebellum and the pyramid of the medulla oblongata.
- Cerebellar dyssinergy myoclonic.
Symptoms and signs
Symptoms of myoclonus-epilepsy begin to manifest in childhood in the form of epileptic seizures. After one month, myoclonia joins the symptomatology, which does not have a specific location. It appears suddenly and is characterized by jerky contractions in one or several muscles at once. Such manifestations can be single or repeated, symmetric and asymmetric. At first, pathology is observed in the extensors of the hip, movements have a small amplitude.
When myoclonus spreads to the muscular system, a person has rapid movements of the limbs, then the pathology spreads to the face, trunk, neck and even the tongue. In the latter case, dysarthria develops. Symptoms intensify with active movement, physical activity, strong emotions. During sleep, such symptoms are usually absent.
As the disease progresses, agitation, euphoria, hallucinations, confusion and aggression appear. Neurological examination reveals ataxia of the limbs and trunk, muscle hypotension. Also, in some cases, visual disturbances are observed, which can lead to complete blindness. All this is accompanied by a headache.
Disease progression
Due to the vivid symptoms, the patient cannot walk, stand, eat food on his own. With an epileptic seizure, a person loses consciousness, convulsions appear, which are periodically repeated. Seizures decrease as myoclonus progresses. Children may experience a delay in psychomotor development.
Over time, dementia, ataxia, tremor, stiffness, dysarthria appear. Sometimes psychosis, schizophrenia develops, suicide attempts are observed. The disease proceeds in a chronic form, constantly progressing. His prognosis is poor. Twelve years after the onset of the first symptoms, complete dementia usually occurs, a person becomes disabled.
Diagnostic measures
Diagnosis of myoclonus epilepsy in children begins with a study of the hereditary history and examination of the patient. It is also important to conduct genetic research. Upon examination, the doctor determines myoclonus. If the child is of the age that falls at the peak of the progression of the disease, this is a confirming factor. As a diagnosis, neurological techniques are used.
The doctor prescribes the following examinations:
- Electroencephalogram in order to detect a decrease in background rhythm.
- A genetic study to identify mutations in the CSTB gene, a violation of its structure.
- PCR to detect a large number of copies of certain regions of a gene on chromosome 21.
- Chromatographic separation of reaction products.
- Examination of liver cells for the presence of Lafora’s bodies.
- Analysis of blood serum on the level of mucopolysaccharides.
- Skin biopsy with further examination of biological material.
MRI is usually not prescribed, since the technique does not reveal abnormalities in this disease.
Differential diagnosis
The doctor also differentiates the pathology with diseases such as tick-borne encephalitis, Kozhevnikov epilepsy, Hunt's cerebellar myoclonic dysinergy, myoclonic abscess, sclerosing subacute leukoencephalitis, chronic ataxia, Tay-Sachs syndrome.
Therapy
If a child has been diagnosed with myoclonus epilepsy, what is it, the doctor who will develop the treatment strategy will tell. In medicine, it is not possible to establish a primary defect in pathology, therefore, treatment is carried out only symptomatic.
The doctor prescribes the following drugs in the treatment of myoclonus epilepsy:
- Anticonvulsants: Benzonal, Clonazepam.
- Means of valproic acid, for example, Convulex. This group of medicines weakens myoclonus well, reduces the frequency of epileptic seizures.
- Nootropic drugs: Piracetam, Nootropil. These funds help slow down the manifestation of cognitive impairment.
- Vitamin complexes, glutamic acid.
Such a comprehensive treatment can slow the development of myoclonus epilepsy, enabling a person to live to old age. Usually, the doctor prescribes two or three anticonvulsants at once, the dosage of which is selected individually in each case.
For the treatment of pathology, the drug “Phenytoin” is not used, since it increases cerebellar symptoms, provokes impaired coordination of movements and cognitive disorders, as well as “Carbamazepine”, since this remedy is ineffective in this case.
It is also important to undergo psychological counseling regarding cognitive impairment of varying degrees of manifestation.
Forecast
The prognosis of myoclonus-epilepsy is unfavorable, especially with untimely started therapy. In some cases, there is a drug-resistant form of the disease that is difficult to treat. In this case, powerful anticonvulsants are used. In the absence of therapy, the patient becomes disabled as a result of dementia and ataxia. According to statistics, in most people, the disease leads precisely to ataxia. But modern medicine makes it possible for patients to live up to seventy years.
Prevention
Since the disease is hereditary, there are no special preventive measures to prevent it. It is recommended to lead a healthy lifestyle and, at the first symptoms of pathology, immediately consult a doctor to develop treatment tactics.
To mitigate the manifestation of the disease and slow its progression, it is necessary to strictly observe the doctor’s prescriptions regarding drug therapy. It is also important to go to sessions of group and individual psychotherapy, undergo a correction of the learning process.
Often children need psychological correction of the emotional sphere, this is especially true in adolescence. Doctors recommend it at this age to undergo a medical examination every six months. It is also important to detect signs of depression in a teenager in a timely manner, since suicidal attempts are more likely. Parents should closely monitor the mental state of their children who have been diagnosed with the disease.
Conclusion
Myoclonus epilepsy is a fairly rare genetic pathology that begins to manifest itself in childhood. Treatment is supposed to be symptomatic, if it is started in a timely manner, then it is possible to slow down the progression of the disease, thereby improving the patient's quality of life. In severe cases, the disease leads to disability, a person can not move independently, eat food. He develops dementia.
In modern medicine, the causes of a gene mutation have not been established, which leads to the development of the disease. Preventive measures that can prevent its occurrence also do not exist. The main point in this case is timely diagnosis of the disease.
It must be remembered that myoclonus epilepsy is manifested by a triad of symptoms: epileptic seizures, impaired cognitive function and the sudden contraction of certain muscle groups (myoclonus). These characteristics are the main point in making a preliminary diagnosis.