Huntington's chorea

August 12, 2017 17:51 | Genetic Diseases

Chorea Huntington - defeated structures of the central nervous system, which is transmitted in an autosomal dominant pattern of inheritance and is characterized by the appearance of widespread involuntary fast, erratic, spasmodic, non-stereotypical jerks different muscle groups (trochaic hyperkinesis), the development of dementia, which is associated with weakening of intellectualabilities, emotional impoverishment, the difficulty of knowledge and past experiences (dementia), as well as continuously progressive course.For the first time the disease has been described in detail in 1872 Huntington

Huntington's Chorea occurs in the human population at a frequency of 3-7 cases per 100 OOO population.The disease has an uneven geographical and ethnic distribution.Huntington's chorea is rare in the Asian populations (Japan, China, and Central Asia), in Finland, among the black population in Africa.A more widespread the disease in some isolated areas (about. Tasmania, Australia).This is due to the history of

the formation of the population and the founder effect.

first manifestations of Huntington's disease can occur at any time from the 1st to the 7th decade of life.Depending on the prevalence of all symptoms of the disease characteristics such as involuntary rapid, irregular, spasmodic, non-stereotypical jerks different muscle groups (trochaic hyperkinesis), the severity of muscle resistance when trying to make a passive movement of the limbs and a decrease of voluntary movements (muscle stiffness), the degree of mentaldisorders, as well as depending upon the age onset of symptoms chorea.

There are three main forms of the disease:

1) classic hyperkinetic form (there is a 4-7-th decade of life);

2) akinetic-rigid, or juvenile, youthful form (there is a 1-2-th decade of life);

3) mental form (psychopathology).

In classical hyperkinetic form of Huntington's disease in humans is gradually emerging and growing restlessness, excessive mobility, restlessness, excessive gesturing, distraction.Already in this initial stage of the patient is difficult to keep the tongue protruding position, as the muscles of the tongue, as well as all other muscle groups perform involuntary movements.Later joined by typical trochaic hyperkinesis that capture the facial muscles, which is manifested grimacing;the muscles of the pharynx, larynx, tongue, and respiratory muscles, which is accompanied by a variety of involuntary sound phenomena and changes in spontaneous speech (sniff, sniff, snores, coughs, sighs, etc...);muscles of the neck and limbs, which is manifested by involuntary movements of the head, arms, changes in handwriting and gait that acquires "danced" in nature.Numerous involuntary movements (hyperkinesia) completely disappear during sleep.With increasing hyperkineses broken perform any purposeful movements, it becomes impossible to perform basic movements for self-service.In the later stages of chorea hyperkinesis may be replaced by severe muscle stiffness, up to complete immobility.

Along with movement disorders, there are characteristic mental changes with Huntington's chorea.In the initial stages often formed neurosis disorders.In this case the person becomes irritable, constantly concerned about his anxiety, emotional lability appears, there are some difficulties when trying to focus, mood becomes depressive character.Gradually formed psycho-organic syndrome, which manifests memory loss, the level of available generalizations abstraction and judgment deteriorate such manifestations of higher nervous activity, as attention, concentration on any object, speech, thinking, spatial orientation (cognitive function).Thus, in Huntington's disease is a narrowing and impoverishment of the whole of human mental activity.The development of dementia, usually accompanied by increased psychopathic changes, against which may be mental disorders due to increased suspicion of other people and all subjects, as well as reasonable overvalued ideas (paranoia).In addition, in this disease can appear a variety of (visual, auditory, olfactory, and others.) Hallucinations.

in 5-10% of all cases, the first symptoms appear before the age of 20 years.In this regard, chorea called akinetic-rigid, or juvenile (youth), Huntington's chorea.This disease is most often characterized by the appearance of movement disorders, which are expressed in the decrease of motor activity, slowing of voluntary movement and increased muscle tone (akinetic-rigid syndrome), mental retardation, followed by the loss of the majority (and in severe cases, all) of the acquired skills.In this form of chorea often arise seizures that can not be normal for the treatment of epilepsy.In most instances the juvenile form of Huntington's chorea occurs during transmission of the mutant gene from the father of the patient, especially in the case of a transmission in several generations.

In some cases, the clinical picture is dominated by mental disorders, in connection with which such people are hospitalized in psychiatric hospitals.Clinical and genealogical analysis, and examination of other family members help the doctor in recognizing the true nature of the disease.

diagnosis of chorea Geitingtona leaves no doubt about the presence of the following symptoms:

1) an autosomal dominant pattern of transmission of the disease;

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

3) the development of movement disorders;

4) violations of the psyche and the higher nervous activity;

5) continuously progressive course of the disease;

6), the characteristic data for special techniques (CT and magnetic resonance imaging of the brain);

7) positive results in DNA research.

treatment. Effective treatment of this disease is absent.When the hyperkinetic form used drugs such as haloperidol, tiaprid, stelazin and others. In severe cases, they combine with the drug clonazepam.When akinetic-rigid (juvenile) form of the disease or madopar use NAC in combination with amantadine (midantanom), selegiline (yumeksom), bromocriptine (Parlodel).Moreover, in the complex treatment of Huntington's chorea importance is given to the elimination of other symptoms.For this purpose, use antidepressants and anticonvulsants.

Forecast for life and for social well-being in all cases of human Huntington's disease remains poor, due to the steady progression of the disease.Often such people commit suicide.Death occurs within 15-25 years, usually from joining diseases, complicating the course of chorea.