Chorea

Chorea - irregular, jerky, disorderly, chaotic, sometimes sweeping, aimless movements, appearing mainly in the limbs. Slightly expressed choreic hyperkinesis can be manifested by mild motor anxiety with excessive fussy movements, motor disinhibition, exaggerated expression, grimaces and inadequate gestures. The pronounced choreic hyperkinesis resembles the movements of the "devil on the thread" (or a modern youth dance with "razboltannoy" motility and "violent" movements). Pronounced hyperkinesis distorts mimic movements, speech, standing and walking, leading to a strange, pretentious, "clownish" gait, which is difficult to adequately describe. In extremely severe cases, chorea makes it impossible to perform any voluntary movements. Such patients can not move because of falls, they are not able to serve themselves and become dependent on others. Choreic movements in the face, involving mimic and oral muscles (including the tongue and larynx), as well as the respiratory muscles prevent not only the reception of food, but also verbal communication.

Chorea is a term used to describe short-term involuntary chaotic elementary limb movements. Chorea is characterized by simple and rapid movements that may resemble normal movements carried out by a troubled person, but are not part of any planned actions. Movements can be two-sided or one-sided, but even with the involvement of both sides of the body their movements are not synchronized. The slower choreoathetoid movements result from the imposition of a dystonia element on fast trocheic movement with a prolonged simultaneous contraction of agonists and antagonists. As a result, the movements become a twisting character. Depending on the etiology, chorea can occur gradually or suddenly. Sudden, or subacute, onset usually indicates vascular, autoimmune or metabolic disease. While a gradual onset and progressive course usually indicate a neurodegenerative disease.

Violent choreic movements can be both focal, as, for example, in oral hyperkinesia of neuroleptic origin, and generalized (which is observed more often), and in some cases appear as a hemisyndrome (for example, hemichorea in stroke).

[1], [2], [3], [4], [5]

Classification and causes of chorea

• Primary forms.
  • Horea Huntington.
  • Neuroacanthitosis (choreoacanthocytosis).
  • Benign (non-progressive) hereditary chorea.
  • Lesha-Naikhan's disease.
• Secondary forms.
  • Infectious diseases (viral encephalitis, neurosyphilis, whooping cough, tuberculous meningitis, HIV infection, borreliosis).
  • Autoimmune diseases (systemic lupus erythematosus, antiphospholipid syndrome, chorea of pregnant women, reaction to immunization, Sydenham's chorea, multiple sclerosis).
  • Metabolic disorders (hyperthyroidism, Lee's disease, hypocalcemia, Fabry's disease, hypo-, hyperglycemia, Wilson-Konovalov's disease, Niman-Pick disease, Gallervorden-Spatz disease, homocystinuria, phenylketonuria, Hartnap's disease, glutaric acidia, gangliosidosis, metochromatic leukodystrophy, Merzbacher disease -Pelicusa, mucopolysaccharidosis, Sturge-Weber disease, etc.).
  • Structural damage to the brain (TBI, tumors, hypoxic encephalopathy, strokes).
  • Intoxication (neuroleptics, mercury, lithium, levodopa, digoxin, oral contraceptives).
• Psychogenic chorea.

[6], [7]

Primary forms of chorea

Huntington Huntington begins most often in 35-42 years (but can appear at any age - from childhood to the elderly) and is characterized by a very typical choreic hyperkinesis, personality disorders and dementia. Type of inheritance is autosomal dominant. The disease begins gradually, the appearance of the first violent movements is sometimes difficult to grasp. More often they appear in the face area, resembling arbitrary motor automatisms (frowning, opening the mouth, protruding the tongue, licking the lips, etc.). As the disease develops, hyperkinesis joins in hands ("playing fingers on the piano") followed by its generalization, a violation of statics and gait. Acceding speech disorders (hyperkinetic dysarthria) and swallowing make it impossible to have adequate nutrition and communication. The short-term and long-term memory worsens, the criticism to the condition decreases, the elementary household self-service is complicated, dementia develops and progresses. Deep reflexes are usually animated on the legs, in a third of cases, clones are detected, typical is muscle hypotension.

Akinetic-rigid form (without chorea) is most typical for the variant with early onset (Westphalian variant), but sometimes it is observed at a later debut (at 20 years and more).

Sometimes the disease begins with mental disorders in the form of affective (most often in the form of depression), hallucinatory-paranoid and behavioral disorders and only after 1,5-2 years or later hyperkinetic syndrome joins. In the terminal stage, patients most often die from aspiration pneumonia.

Differential diagnosis of Huntington's chorea involves the exclusion of diseases such as Alzheimer's, Creutzfeldt-Jakob disease, benign hereditary chorea, Wilson-Konovalov's disease, hereditary cerebellar ataxia, choreoacanthocytosis, basilar ganglia infarcts, tardive dyskinesia, and in some cases also schizophrenia and Parkinson's disease.

Neuroacanthocytosis is manifested by chorea and acanthocytosis (changes in the shape of red blood cells). Described as autosomal recessive, and sporadic cases of the disease. Disease usually begins on the 3rd or 4th decade of life (sometimes on the 1st). The initial manifestations are oral hyperkinetic cells with tongue protrusion, movements of the lips, chewing and other grimaces very reminiscent of tardive dyskinesia. Often observed non-articulated vocalization, described cases of echolalia (but not coprolights). A distinctive feature is self-harm in the form of involuntary biting of the tongue, lips and internal surfaces of the cheeks. Often noted choreic hyperkinesia of extremities and trunk; there may also appear dystonic postural phenomena and tics.

The disease differs from Huntington's chorea by the presence of weakness and atrophy in the muscles of the limbs, caused by damage to the cells of the anterior horns and peripheral nerves (axonal neuropathy with a decrease in deep reflexes). In the future, often (but not always) observe the addition of dementia and epileptic seizures. The level of lipoproteins in the blood is normal. For diagnosis, it is important to identify acanthocytosis, accompanied by a progressive neurologic deficit with a normal level of lipoproteins.

Benign (non-progressive) hereditary chorea without dementia begins in the thoracic or early childhood with the appearance of generalized chorea, which stops only during sleep. The disease is inherited by an autosomal dominant type. Characteristic of normal intellectual development. Another difference from the juvenile chorei of Huntington is the non-progressive course (on the contrary, it is even possible to reduce the expression of choreic hyperkinesis in adulthood).

Lesch-Nayhan disease is associated with hereditary hypoxanthine-guanine phosphoribosyltransferase, leading to increased uric acid formation and severe damage to the nervous system. Inheritance is X-linked recessive (hence, male patients are ill). Children are born normal, with the exception of mild hypotension, but during the first 3 months of life a delay in motor development develops. Further, progressive rigidity of the extremities and torticollis (or retrocollis) occur. In the 2nd year of life, facial grimaces and generalized choreic hyperkinesis appear, as well as symptoms of defeat of the pyramidal tract.

Later, children are noted for their propensity to inflict self-harm (they start to bite their fingers, lips and cheeks). These compulsive self-harm (leading to disfigurement) are very typical (but not pathognomonic) for Lesha-Naikhan's disease. Observe the delay of mental development of one degree or another.

The content of uric acid in the blood and urine is increased. The diagnosis is confirmed by a decrease in the activity of hypoxanthine-guanine-phosphoribosyltransferase in erythrocytes or fibroblast culture.

Secondary forms of chorea

Secondary forms of chorea can develop with very many diseases: infectious, tumor, vascular, autoimmune, metabolic, toxic, traumatic. Diagnosis of secondary chorea syndrome in these diseases usually does not cause difficulties. Recognition of the nature of the primary lesion is usually based on a complex of clinical and paraclinical methods, including biochemical, molecular-genetic, neuroimaging, and many other studies.

The most frequent secondary forms are Sydenham's chorea (observed almost exclusively in childhood and adolescence) and the chorea of pregnant women.

• Malignant chorea (Sydenham's chorea) usually develops several months after a stentococcal infection or rheumatic fever, when symptoms of an acute period are no longer present, and is associated not with vasculitis, as previously thought, but with autoimmune processes and the formation of antineuronal antibodies. Girls are sick 2 times more often than boys. At the initial stages or in light cases, motor disinhibition is observed with grimacing and exaggerated gestures. In severe cases, generalized choreic hyperkinesis deprives the patient of the ability of elementary self-service, frustrates speech (dysarthria) and even breathing, makes it impossible for movement and communication. In most cases, generalization of hyperkinesis goes through the stage of hemichoria. Muscular hypotension, sometimes creating the impression of muscle weakness, a "tonic" or "hardening" knee-jerk reflex (Gordon phenomenon), emotional-affective and transient cognitive disorders, are characteristic. In most cases, hyperkinesis spontaneously regresses within 3-6 months.
• Chorea of pregnant women usually develops in primiparas, who in childhood suffered minor chorea. Prenatal pregnancy is currently associated with antiphospholipid syndrome (primary or systemic lupus erythematosus). Chorea usually begins at the 2-5th month of pregnancy, rarely - in the postpartum period, sometimes it recurs in subsequent pregnancies. Typically, symptoms regress spontaneously within a few months or soon after childbirth or abortion. The so-called senile (senile) chorea by most authors nowadays relates to questionable diagnoses and, as a rule, there are no classification schemes.

Psychogenic chorea ("large chorea" - in the terminology of the old authors) does not apply to extrapyramidal syndromes and is one of the variants of psychogenic motor disorders.

Differential diagnosis of chorea

[8], [9], [10], [11], [12]

Drug Chorea

Drug chorea most often develops due to prolonged use of antagonists of dopamine D1 receptors. Chorea usually appears several months or years after the start of the drug and can be combined with other dyskinesia or dystonia. Since hyperkinesis occurs after long-term use of the drug, it is referred to as tardive dyskinesia (late chorea) or late dystonia. If reception of a preparation stop at the appearance of the first signs of dyskinesia, then usually, though not always, its reverse development takes place. If the drug is continued, then dyskinesia becomes resistant, irreversible and does not decrease after the withdrawal of the drug that caused it. Although older persons are more predisposed to the development of tardive dyskinesia, it can occur at any age. Late dyskinesia is most often observed with neuroleptic treatment of mental illnesses, but it can also occur in patients taking antipsychotics or other dopamine receptor antagonists about nausea or decreased gastric motility.

In addition, chorea can occur in patients with Parkinsonism who take levodopa. Antagonists muscarinic cholinergic receptors (cholinolytics) can also induce chorea, especially in individuals with organic damage to the basal ganglia. Chorea caused by levodopa or anticholinergics is reversible when the dose is lowered or the drug is withdrawn.

[13], [14], [15], [16], [17], [18], [19], [20]

Metabolic diseases

A large number of acquired or hereditary metabolic disorders can cause chorea. Often, it is caused by metabolic disorders in pregnancy (or estrogen treatment) or thyrotoxicosis. After allowing pregnancy, stopping estrogen intake, or with adequate treatment of thyrotoxicosis, symptoms usually completely regress.

Autoimmune diseases

Chorea in autoimmune disorders is probably due to the production of antibodies to the caudate nucleus. Chorea Sydengam usually begins a few weeks or months after the infection of Group A streptococcus and grows for several days. Hyperkinesis can be rude and accompanied by tics and personality changes. The reverse development usually occurs gradually, for several weeks and sometimes is incomplete. In some individuals who have undergone Sydenham's chorea in childhood or adolescence, chorea resumes in old age. Similarly, the administration of estrogen or thyrotoxicosis sometimes causes chorea in those patients who have previously undergone Sydenham's chorea.

With systemic lupus erythematosus or other collagenoses, chorea can be the initial manifestation or occur against the background of a detailed clinical picture of the disease. Chorea is also a distant manifestation of malignant neoplasm, resulting from the production of anti-bullet antibodies capable of cross-reacting with striatum antigens.

[21], [22], [23], [24], [25], [26]

Vascular diseases and other structural damage

Hemiballism or hemichorea usually arise as a result of structural damage to the subthalamic nucleus caused by ischemia, tumor or infection. The disease is manifested by sweeping choreic or ballistic movements of the limbs on one side of the body. Often, dyskinesia involves the face. Movements are so great amplitude that they can cause physical exhaustion of the patient. Fortunately, if the patient survives in an acute period, then in time their intensity weakens and hyperkinesis gradually transforms into one-sided chorea.

Although the subthalamic nucleus is not directly related to the dopaminergic system, dopamine receptor antagonists can be very effective in treating ballistic hyperkinesis. Sometimes benzodiazepines, preparations of valproic acid, barbiturates are also used to reduce violent movements. Specific therapy for this disease has not been developed.

Genetic diseases

Recessive , with onset in childhood. There are many inherited diseases associated with impaired metabolism of amino acids, lipids, as well as mitochondrial diseases that cause chorea and dystonia. They are relatively rare, but quite easily diagnosed with laboratory tests. As a rule, chorea develops in these cases against the background of other neurological or systemic manifestations.

Dominant, with the onset in adulthood: Huntington's disease.