Horea Huntington

Huntington chorea is a lesion of the structures of the central nervous system that is transmitted by an autosomal dominant type of inheritance and is characterized by the appearance of widespread involuntary fast, erratic, irregular, non-stereotyped twitchings of various muscle groups( choreic hyperkinesis), the development of dementia, which is associated with a weakening of intellectual abilities,emotional impoverishment, difficulty in using knowledge and past experience( dementia), and also continuously progressiveit. For the first time this disease was described in detail by Huntington in 1872.

Horea Huntington is found in the human population with a frequency of 3-7 cases per 100 population LLC.The disease has uneven geographical and ethnic distribution. Huntington Hunting is rarely found in Asian populations( Japan, China, Central Asia), in Finland, among blacks in Africa. This disease is more common in some isolated regions( Tasmania Island, Australia).This is explained by the history of the formation of populations and the effect of the ancestor.

The first manifestations of Huntington's chorea can occur at any time from the 1st to the 7th decade of life. Depending on the prevalence of such signs as involuntary fast, disorderly, nonrhythmic, non-stereotyped twitchings of various muscle groups( choreic hyperkinesis), the degree of resistance of muscles in an attempt to produce a passive limb movement and a reduction in the volume of voluntary movements( rigidity of muscles), the degree of mentaldisorders, and also depending on the age of appearance of the first symptoms of chorea.

There are 3 main forms of the disease:

1) classical hyperkinetic form( occurs in the 4-7th decade of life);

2) akinetic-rigid, or juvenile, youthful form( occurs in the 1-2-th decade of life);

3) mental form( psychopathological).

With classical hyperkinetic form of Huntington's chorea, fussiness, excessive mobility, restlessness, excessive gesticulation, absent-mindedness gradually appear and grow in a person. Already in this, the initial stage of the patient difficult to keep the tongue in the protruding position, since the muscles of the tongue, like all other muscle groups, make involuntary movements. Later, typical choreic hyperkinesises join, which capture the facial muscles, which is manifested by grimacing;muscles of the pharynx, larynx, tongue and respiratory muscles, which is accompanied by a variety of involuntary sound phenomena and changes in spontaneous speech( sniffing, sniffing, snoring, coughing, sighing, etc.);muscles of the neck and limbs, which is manifested involuntary movements of the head, hands, changes in handwriting and gait, which acquires a "dancing" character. Numerous involuntary movements( hyperkinesis) completely disappear in a dream. As the hyperkinesis increases, any targeted movements are disrupted, it becomes impossible to perform elementary movements for self-service. In the later stages of chorea, hyperkinesis can be replaced by severe muscle rigidity, up to complete immobility.

Along with motor disorders, with Huntington's chorea, characteristic mental changes occur. At the initial stages, neurotic-like disorders are more often formed. At the same time, the person becomes irritable, he is constantly worried about the feeling of anxiety, there is emotional instability, there are certain difficulties in trying to concentrate attention, the mood acquires a depressive character. Gradually the psycho-organic syndrome is formed, which is manifested by a decrease in memory, the level of available generalization, abstraction and judgments, such manifestations of higher nervous activity as attention, concentration on an object, speech, thinking, orientation in space( cognitive functions) deteriorate. Thus, with Huntington's chorea, the whole mental activity of a person narrows and depletes. The development of dementia, as a rule, is accompanied by the intensification of psychopathic changes, against which there may be mental disorders caused by increased suspicion of the surrounding people and all subjects, and also based on supervalued ideas( paranoia).In addition, with this disease, various( visual, auditory, olfactory, etc.) hallucinations can appear.

In 5-10% of all cases of disease, the first signs of the disease appear at the age of up to 20 years. In this connection, chorea was called akinetico-rigid, or juvenile( juvenile) chorea of ​​Huntington. This form of the disease is most often characterized by the appearance of motor disorders, which are expressed in lowering the motor activity, slowing down voluntary movements and increasing muscle tone( akinetic-rigid syndrome), mental retardation followed by a loss of the majority( and in severe cases, all) of acquired skills. With this form of chorea, epileptic seizures often occur, which are not amenable to the usual treatment for epilepsy. In most cases, the juvenile form of Huntington's chorea is observed when the mutant gene is transmitted from the sick father, especially in the case of such transmission in several generations.

In some cases, the pattern of the disease is dominated by mental disorders, which is why such people are hospitalized in psychiatric hospitals. Clinical-genealogical analysis, as well as examination of other members of the family, helps the doctor to recognize the true nature of the disease.

The diagnosis of Hoitington chorea leaves no doubt if there are the following symptoms:

1) autosomal dominant type of disease transmission;

2) the appearance of the first signs of chorea in the 4-5 decade( in the classical form) or in 1-2 decades( with the juvenile form);

3) development of motor disorders;

4) disorders of the psyche and higher nervous activity;

5) continuously progressing course of the disease;

6) characteristic data when performing special research methods( computer and magnetic resonance imaging of the brain);

7) positive results in DNA testing.

Treatment. There is no effective treatment for this disease. When hyperkinetic form used drugs such as haloperidol, tiaprid, stelazin, etc. In severe cases they are combined with the drug clonazepam. In akinetic-rigid( youthful) form of the disease use nakom or madopar in combination with amantadine( midantanom), selegilin( yumeksom), bromocriptine( parlodel).In addition, in the complex treatment of Huntington's chorea, an important place is given to the elimination of other symptoms of the disease. For this purpose, antidepressants and anticonvulsants are used.

The prognosis for both life and social well-being of a person in all cases of Huntington's chorea remains unfavorable, which is due to the steady progression of the disease. Often such people commit suicide. Death occurs after 15-25 years, usually from joining diseases that complicate the course of chorea.