Today, diseases of the nervous system, which are hereditary, are not diagnosed in medicine so often. One of them is Unferricht-Lundborg disease, or myoclonus epilepsy. This pathology has a progressive course, leading to dementia in 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 thalamus.
The disease is rare and is diagnosed in one patient out of a hundred thousand. Treatment of 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.
Characteristics 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. Diseaseis transmitted in an autosomal recessive manner and is associated with a gene mutation on chromosome 21.
Pathology begins to manifest itself between the ages of six and fifteen in the form of epileptic seizures combined with nocturnal myoclonus. Then muscle contractions are observed on the limbs, on the torso, this leads to problems with self-care, swallowing and walking are disturbed. Especially often the disease manifests itself as a result of exposure to a strong sensory stimulus, such as a bright flash of light, a sharp sound, etc. In this case, the person develops an attack, which may be accompanied by loss of consciousness. At a late stage of development, the pathology is manifested by symptoms of cerebellar ataxia, mental disorders, dementia.
In pathology, there are changes in the nuclei of the thalamus, the 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 - Lafora 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.
For the first time they started talking about pathology in 1891, when it was discovered by the German neurologist G. Unferricht, and then in 1903 by G. Lunborg. Therefore, progressive myoclonus epilepsy is calledalso Unferricht-Lundborg disease.
Most of all the disease is diagnosed in southern France, Spain and the Balkans, as well as in North Africa. Pathologies affect people of different genders. It usually appears in childhood or adolescence.
Causes of disease development
The main cause of myoclonus epilepsy is a mutation of the CSTB gene on the 21st chromosome. Presumably, its defect leads to a breakdown in metabolic processes in nerve cells, which causes the development of the disease.
This pathology is different in that only CNS 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 he althy 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 options for pathology:
- An autosomal recessive hereditary disease that is accompanied by intracerebral accumulation of mucopolysaccharides.
- Progressive pathology with different stages of inheritance, which is characterized by damage to the cerebellum and the pyramid of the medulla oblongata.
- Cerebellar dyssynergy myoclonic.
Symptoms and signs
Symptoms of myoclonus epilepsy begins to manifest in childhood in the form of epileptic seizures. One month later, the symptoms joinmyoclonus, 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, symmetrical and asymmetric. First, the pathology is observed in the hip extensors, the 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 tongue. In the latter case, dysarthria develops. Symptoms are aggravated with active movement, physical activity, strong emotions. During sleep, these signs are usually absent.
As the disease progresses, agitation, euphoria, hallucinations, confusion and aggression appear. Neurological examination reveals ataxia of the limbs and torso, muscular hypotension. Also, in some cases, visual disturbances are observed, which can lead to complete blindness. All this is accompanied by a headache.
Progression of disease
Due to the vivid symptoms, the patient cannot walk, stand, eat on his own. With an epileptic attack, a person loses consciousness, convulsions appear, which are periodically repeated. Seizures decrease as myoclonus progresses. Children may experience delayed psychomotor development.
Over time, dementia, ataxia, tremor, rigidity, dysarthria appear. Sometimes psychosis developsschizophrenia, 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 sets in, the person becomes disabled.
Diagnostic measures
Diagnosis of myoclonus-epilepsy in children begins with the study of hereditary history, examination of the patient. It is also important to conduct genetic research. On examination, the doctor determines myoclonus. If the child has the age that falls at the peak of the progression of the disease, this is a confirming factor. Neurological techniques are used as diagnostics.
The doctor prescribes the following examinations:
- An electroencephalogram to detect a decrease in the background rhythm.
- Genetic study to detect a mutation in the CSTB gene, a violation of its structure.
- PCR to detect a large number of copies of certain sections of a gene on chromosome 21.
- Chromatographic separation of reaction products.
- Study of liver cells for the presence of Lafora bodies.
- Analysis of blood serum for the level of mucopolysaccharides.
- Skin biopsy with further examination of biological material.
MRI is usually not prescribed, as the technique does not reveal abnormalities in this disease.
Differential Diagnosis
Also, the doctor differentiates the pathology with diseases such as tick-borne encephalitis, Kozhevnikov's epilepsy, Hunt's cerebellar myoclonic dyssynergy,myoclonic absence, sclerosing subacute leukoencephalitis, chronic ataxia, Tay-Sachs syndrome.
Therapy
If a child has been diagnosed with myoclonus-epilepsy, what it is, the doctor will tell, who will develop a treatment strategy. In medicine, it is not possible to establish a primary defect in pathology, therefore, only symptomatic treatment is carried out.
The doctor prescribes the following drugs for the treatment of myoclonus epilepsy:
- Anticonvulsants: Benzonal, Clonazepam.
- Means of valproic acid, for example, "Convulex". This group of medicines well weakens myoclonus, reduces the frequency of epileptic seizures.
- Nootropic drugs: Piracetam, Nootropil. These drugs help slow the manifestation of cognitive impairment.
- Vitamin complexes, glutamic acid.
Such a complex treatment can slow down 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 for cognitive impairment of varying degreesmanifestations.
Forecast
The prognosis of myoclonus-epilepsy is unfavorable, especially if therapy is started late. 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 he althy lifestyle and, at the first symptoms of pathology, immediately consult a doctor to develop therapy tactics.
To mitigate the manifestation of the disease and slow its progression, it is necessary to strictly follow the doctor's prescription regarding drug therapy. It is also important to go to sessions of group and individual psychotherapy, undergo correction of the learning process.
Often children need psychological correction of the emotional sphere, this is especially true in adolescence. Doctors recommend at this age to undergo an examination by a doctor every six months. It is also important to detect signs of depression in a teenager in a timely manner, since the likelihood of suicidal attempts is high. Parents should closely monitor the mental he alth of their children who have been diagnosed withdisease.
Conclusion
Myoclonus-epilepsy – enough is a rare genetic pathology that begins to manifest itself in childhood. Treatment is supposed to be symptomatic, if it is started in a timely manner, it is possible to slow down the progression of the disease, thereby improving the quality of life of the patient. In severe cases, the disease leads to disability, a person cannot move independently, eat food. He develops dementia.
In modern medicine, the causes of gene mutation, which leads to the development of the disease, have not been established. There are also no preventive measures that can prevent its occurrence. The main point in this case is the timely diagnosis of the disease.
It must be remembered that myoclonus epilepsy is manifested by a triad of symptoms: epileptic seizures, cognitive impairment and sudden contraction of certain muscle groups (myoclonus). These characteristics are the main point in making a preliminary diagnosis.
