Huntington's disease - a serious hereditary progressive neurodegenerative brain disease, characterized by a combination of mental disorders and trochaic hyperkinesis.The prevalence of this disease is 1: 10,000 population.Huntington's disease may develop in childhood and in old, but often the first symptoms manifested in the age range from twenty-eight to fifty years
Huntington's disease - causes of
Because the disease steadily progressesand it leads to the inevitable disability, affecting the interests of the patient and his relatives (children sick person risk of disease is close to 50%) in recent years, Huntington's disease is studied particularly closely.The results are seriously alarmed experts, as it turned out, that the disease is more widespread than previously thought.Nearly 100% of the cases examined tested positive for a family history.Some scientists suggest that sometimes a new case of the disease may be caused by a genetic mutation, but no similar case
Huntington's disease - symptoms and signs
disease always starts slowly, as if gradually.The first symptoms of Huntington's disease usually occur in the age range from twenty-five to fifty years old (extremely rare in children), men are affected more often than women.Among the first symptoms of the disease include fidgeting and restlessness that is not usually regarded as a disease of the human family.Over time, motor disturbances continue to progress, which ultimately leads to disability usually.With further progression of Huntington's disease for the patient are frequently characterized by sudden spasmodic convulsive movements of the trunk and limbs may occur violation of articulation possible involuntary sobs and spasms of facial muscles.Coordination of movements during walking is much suffering, the gait becomes trochaic (dancing).Up until the very late stages of the disease remains intact memory, but executive functions, thinking and attention being violated at the very beginning of developing the disease.Quite often, in Huntington's disease are observed obsessions and delusions (for this symptoms can be misdiagnosed as schizophrenia), periodic disinhibition, alienation, apathy and depression.Gradually, requiring muscle control functions are violated: a person begins to experience problems with swallowing and chewing starts to grimace (due to rapid eye movement sleep disturbance).
duration of the disease an average of fifteen years.In the case of early-onset (up to twenty years), the disease is accompanied by cognitive impairment, ataxia, rigidity, and it progresses more rapidly (about eight years).Epileptic seizures in Huntington's disease are extremely rare in the case of late-onset disease, and often at its early form.
On the fourth or fifth decade of life, Huntington's disease manifested by progressive choreoathetosis, which in turn is accompanied by a pronounced mental disorders (depression and frequent suicidal attempts, dementia, frequent outbreaks of aggression and anger).At the youthful age of the disease can sometimes be manifested by progressive akinetic-rigid syndrome.
Huntington's disease is slow.Disability caused both serious mental changes and deepen the movement disorders.Lethal outcome comes after many years of suicide or intercurrent infection
Huntington's disease - diagnosis
In typical cases, the diagnosis of disease does not pose any difficulties.Slowly progressive course, a relatively late start, the absence of concomitant rheumatic fever and severe dementia to rule out chorea Sydenham.In addition, the differential diagnosis should be carried out with such diseases as benign hereditary chorea, senile chorea, ataxia, neyroakantotsitoz Parkinson's disease.In all cases the disputed diagnosis, the decisive factor will be the direct results of the DNA testing.
key factors for proper diagnosis of the disease is based on the type of inheritance and the availability of family history of the disease, the presence in the blood smear of a modified form of red blood cells, the presence and localization of atrophic processes in the cerebral hemispheres of the brain
Huntington's disease - Treatment
Unfortunately,Today has not been developed any method of treatment that can stop or at least suspend the progression of the disease.All attempts to suppress abnormal movements possible in most cases without result.In some cases, patients in order to reduce movement disorders and emotional disorders correction prescribed psychotropic drugs of neuroleptics.To reduce the severity of symptoms of Huntington's disease has been specifically designed and subsequently in 2008 approved the drug tetrabenazine.Drugs such as amantadine and remacemide still in the testing stage, but has already shown positive results.To facilitate the muscle rigidity and hypokinesia appointed antiparkinsonian drugs.To facilitate myoclonic hyperkinesia used valproic acid.When violations of the behavior and psychosis prescribed atypical antipsychotics.To eliminate depression widely used Mirtazapine and serotonin reuptake inhibitors.
forecast of Huntington's disease in most cases unfavorable.Lethality due to various complications (congestive heart activity, pneumonia, etc.), Usually occurs after ten - twelve years from the date of disease progression.