Huntington's disease( or Huntington's chorea) is the genetic pathology of the nervous system, characterized by a prolonged course with subsequent progressive mental disorders and hyperkinesis( involuntary muscle movements).The disease received its name after the name of an American doctor who first described this illness in the XIX century.
Brief description of the disease
The initial stage of the disease is usually diagnosed in persons 30-50 years of age. At the molecular level, the disease is an intracellular metabolic disorder with the formation of a pathological protein in nerve cells, which leads to a biochemical failure in the central nervous system.
The result of the disease is usually the atrophy of some parts of the brain, including the striatum of the brain( striatum - the department responsible for movement) and the cortex of the cerebral hemispheres. Duration of the disease is about 15 years.
Causes of the disease
The direct cause of the disease is the presence of a pathological gene. Such a gene can be transmitted only by inheritance from parents to children. The presence of a diseased gene provokes degenerative changes in the brain cells. There is a gradual atrophy of the cortex of the cerebral hemispheres and subcortical areas of the brain due to changes in biochemical processes in neurons.
The mass of the brain in patients with Huntington's chorea significantly decreases with time, which can not but lead to irreversible consequences. The death of the neurons of the striatum of the brain leads to the loss of control by the patients.
Spasm is a sudden multiple narrowing of the lumen of the blood vessels of the brain, accompanied by a sharp deterioration in the state of health. Such a state of the cerebral vessels is extremely dangerous for the life of any person. All about the causes, symptoms of spasm of cerebral vessels and methods of treatment.
Remember that a large number of diseases can be caused by nervous tension that directly leads to stress and depression, but at present, domestic medicine has developed a number of drugs that help prevent the effects of nervous tension. A list of stress pills can be found in this article.
Risk Factors
The risk group for Huntington's chorea disease includes children whose parents are carriers of the mutation. In families where parents have a pathological gene leading to the disease, the ratio between sick and healthy is 1: 1.The probability of gene transfer to daughters and sons is the same. It should be said that the presence of this gene is not a 100% diagnosis - sometimes the disease does not manifest itself.
The first signs of the disease appear in a person after 30 years, usually by this age many already have their children. Thus, the gene of the disease is constantly transmitted from one generation to another.
In some cases, the disease can develop earlier - it depends on the number of pathological genes in the chromosome( the more of them, the earlier the disease manifests itself).For 100 thousand people, the disease called Huntington's chorea suffers from 3 to 10 people.
Symptoms of Huntington's disease
The first symptoms of Huntington's disease can appear at the age of 30-35.The disease progresses slowly, but inexorably, causing an increase in symptoms such as:
- Intelligence disorder - the ability to logical and abstract thinking is reduced, attention is weakened, changes in the structure of the person's personality. The ability of criticism to their behavior and state is absent. In patients there is restlessness, fussiness in movements.
- Choreic hyperkinesia - the occurrence of involuntary fast and erratic movements in different muscle groups, caused by a decrease in the inhibitory effect of the cortex on the motor nerves. Muscle tone is gradually weakened. First, the patient changes his gait( she becomes dancing and shaky, like a drunkard), in later stages a person can no longer move without help.
- Increased excitability, emotional disorders .The patient is prone to sudden unmotivated attacks of rage, panic, anxiety, depression. The patient may develop hypersexuality or appear suicidal tendencies.
- Speech disorders , also accompanied by attacks of involuntary movements in the muscles. The patient at the conversation smacks, grimaces, sniffs, sobs, he can randomly move eyeballs. In later stages speech becomes completely indistinct, swallowing is difficult.
- Sleep Disorders .
- Endocrine Disorders .
- Dementia ( dementia) - this condition develops in the late stages of the disease. There may be nonsense and obsessive states.
Diagnosis of
Diagnosis of the disease in the initial stages may be difficult due to the mild manifestations or similarity of symptoms with other physical and mental disorders.
If there is a suspicion of Huntington's chorea( for example, if there is information about the patient's parents suffering from this ailment), diagnostic examinations are carried out.
Clinical methods
These diagnostic methods include:
- Physical methods - external examination of a patient in conjunction with a psychological examination, which allows you to determine the obvious signs of the disease.
- Computer tomography, which allows you to assess the state of the brain and determine the degree of its atrophy.
- Magnetic resonance imaging( MRI) is a method that allows you to examine not only the brain, but also to assess the state of the myelin protective coat of nerves in order to exclude diseases related to demyelination of nerve endings( multiple sclerosis and others).
- Positron emission tomography is an intravenous injection of a special preparation with a radioactive isotope. A method that allows one to judge the activity of metabolic processes in the central nervous system. This method of examination allows you to determine the pathology even before the appearance of its first manifestations.
Genetic studies of
Genetic diagnosis of Huntington's chorea is performed by means of a blood test. In the DNA samples of the patient, the parts of the molecule responsible for the production of protein are studied, to which the scientists gave the name "hantingtin".The number of repeats of amino acid fragments that negatively affect the folding of this protein is also counted.
If such repetitions are more than normal, the risk of developing the disease is diagnosed. Genetic research reveals a predisposition to a disease long before the onset of the first symptoms. An embryonic study is also possible for the presence of pathological genes.
Differential diagnosis
90% of all diagnoses of Huntington's disease, based on typical symptoms, are supported by genetic studies. The remaining 10% of cases with similar symptoms, but not confirmed genetically, are considered disorders with unknown etymology.
A severe headache in the temples tortures many people. Causes, methods of treatment.
Symptoms of cluster headache are fully described here.
What do you know about a disease like glioblastoma of the brain? More information here: http: //gidmed.com/ bolezni-nevrologii /opuholi/ glioblastoma-golovnogo-mozga.html.
Treatment methods
Therapy is purely symptomatic. There is no way to completely cure a patient of this disease.
However, there are some medications( for example, Tetrabenazine ), which can significantly alleviate symptomatic manifestations.
These drugs smooth the course of the disease, relieving the patient of excessive pathological symptoms.
Hyperkinesis is suppressed by neuroleptic drugs. These drugs allow the patient to improve coordination of movement and increase muscle tone.
For the elimination of symptoms of mental and emotional disorders, sedatives, valproic acid and lithium drugs, antidepressants and antipsychotics are used.
Treatment at the initial stages of the disease is carried out using preventive therapy to slow the progression of progressive symptoms.
At this stage, psychological work with family members of the patient and their instruction in the proper care of the patient is necessary.
Forecast
The prognosis of the disease is unfavorable. Cases of recovery from this disease is not fixed. Proper care of the patient, and compliance with all prescriptions of the doctor is of great importance.
The statistical data of medicine show that from the moment of appearance of the first signs of Huntington's chorea, the life expectancy of patients is 15-20 years.
The causes of death are not the disease itself, but the complications arising as a result of its influence in the form of injuries, pneumonia, cardiovascular pathologies. A common cause of death of patients is also suicide.
Prevention
The only preventive method for Huntington's disease is to counsel the patient himself and his immediate family on the issue of procreation. A person with an identified genetic predisposition to the development of this disease should be warned about the possible inheritance of a pathological gene by his offspring.
Video, which highlights the main causes of the development of Huntington's disease: