Huntington's Chorea - Causes, Symptoms, Diagnosis and Treatment

Chorea Huntington - An inherited, slowly progressive disease of the nervous system characterized by trochaic hyperkinesis, mental disorders and progressive dementia. The notion of "Huntington's chorea" correspond to: Huntington's disease, hereditary chorea, chorea a degenerative, chronic progressive chorea. Typically, Huntington's disease begins to manifest itself clinically in the age period from 20 to 50 years. Patients with Huntington's disease symptomatic therapy aimed at the suppression of hyperkinesis. The disease has a poor prognosis, death occurs on average after 10-13 years after the onset of the disease.

  • The clinical picture of Huntington's chorea
  • Diagnosis and treatment of Huntington's chorea
  • Prediction and prevention of Huntington's chorea
  • Chorea Huntington - treatment

  • Chorea Huntington


    dementia. The notion of "Huntington's chorea" correspond to: Huntington's disease, hereditary chorea, chorea a degenerative, chronic progressive chorea.

    The etiology and pathogenesis of Huntington's chorea



    Huntington's disease gene is located on the short arm of chromosome 4r16.3. It encodes the protein huntingtin, whose function is not fully understood. It proved that Huntington's chorea is caused by increasing the number of trinucleotide repeats - cytosine guanine adenine located in the first exon of the gene. Triplet cytosine-adenine-guanine encodes the amino acid glutamine, so formed elongated polyglutamine tract in the protein. Forming a sort of "lock-fastening" expanded polyglutamine protein huntingtin site changes its own information and is firmly connected with other proteins. This results in protein aggregation, protein-protein interactions are violated, leading to apoptosis.

    small chorea, but more complicated, sometimes delayed (at Athetoid type). With the progression of Huntington's chorea giperkinezy amplified, acquire the character of athetosis and dystonia pronounced, subsequently passing into rigidity.

    When juvenile forms of Huntington's disease in 50% of cases the disease manifests in the form of bradykinesia and rigidity. Seizures occur in 30-50% of cases (as opposed to adults). With the development of the disease occurs in patients with a disorder of speech function. In the first place there are problems with sound pronunciation, semantic and syntactic structure of speech remains intact until the last stage of the disease. Over time, changing the speed of speech and its rhythm.

    Oculomotor disturbances are observed in the majority of cases in the early stages of Huntington's chorea. Patients broken automation sakkadiruyuschih movements of the eyeballs: lengthened latent period beginning sakkadiruyuschih eye movements, decreased speed of transfer and gaze tracking accuracy. With the development of the disease in most patients, there is a vertical, less horizontal, sometimes combined nystagmus.

    CT or MRI brain atrophy determined head caudate nucleus, which increases as the disease progresses. Verification of the diagnosis "Huntington's chorea" conducted at the molecular genetic level. Using polymerase chain reaction, the number of rotations determined triplet adenine-cytosine-guanine in the HD gene. In adult patients, the number of repeats exceeds 36 with the juvenile form of the disease - 50.

    To date, specific treatment of Huntington's disease has not been developed. Displaying symptomatic treatment by a neurologist, whose main purpose is to fight the trochaic hyperkinesis. Prescribe drugs that reduce the activity of brain dopaminergic systems (haloperidol, reserpine). The dose is increased every 2-3 days. The effectiveness of stereotactic operations for the treatment of Huntington's disease has not been proved.

    pneumonia, congestive heart activity) occurs within 10-13 years of disease. Life expectancy of patients ranged from 45 to 55 years.

    In the absence of survey methods to identify carriers of the pathogen to the manifestation of clinical signs of Huntington's chorea, genetic consultation presents certain difficulties. The families of patients is not recommended in the future to have children.