Huntington's Disease - Causes and Signs of Huntington's Disease
There are two types of the disease. Depending on the manifestation of the first signs, the disease is distinguished:
- Mature age (30-40 years) - involuntary twitching of the limbs, torso and facial muscles. Quite often they are accompanied by mood swings, depression, irritability, slurred speech and clumsiness of movement
There are two types of the disease. Depending on the manifestation of the first signs, the disease is distinguished:
- Mature age (30-40 years) - involuntary twitching of the limbs, torso and facial muscles. Quite often they are accompanied by mood swings, depression, irritability, slurred speech and clumsiness of movements. As the disease progresses, difficulty or pain when swallowing, unsteadiness of gait, loss of balance, damage to the mind and memory impairment are added. The patient loses the ability to move without outside help and usually dies from pneumonia, cardiac arrest or similar complications.
- Childhood and adolescence - the appearance of signals at an early age indicates a juvenile form of the disease (severe with pronounced characteristics leading to rapid disability and a very rapid course).
Causes
Initial signs appear at the age of 30-50. 50% of children born to a sick parent inherit the pathology.
The disease can also be provoked by huntingtin, a protein that destroys neurons in those areas of the brain that are responsible for intelligence, movement, and emotions.
Symptoms
The deviation manifests itself visually already at the first stage: uncontrollable involuntary sharp, sudden movements called chorea; slurred speech; increased facial expressions; problems with chewing and swallowing food.
As for the psychoemotional state, patients experience: sleep disorder; depression or panic; excessive excitability, aggression; tendency to bad habits.
People are unable to plan any actions, adequately assess the situation, follow the rules.
The cause of death of people is not the disease itself, but the accompanying consequences, for example, pneumonia, heart failure. In 30% of cases, suicide is considered the cause of death.
Diagnostics
The disease can be diagnosed several decades before its onset. For this purpose, magnetic resonance spectrogram is practiced, which determines the level of lactate. In addition, computed tomography is used for diagnosis, which determines damaged areas of the brain.
Genetic testing is considered the most effective of the screening studies. With its help, the number of trinucleotide residues is determined, of which there should normally be 36. If their number exceeds the norm, then over time the malaise manifests itself in visual and psycho-emotional features. The greater the amount of residues, the faster the disease progresses.
Today, this disease can be detected even in the fetus. There are several methods of prenatal diagnostics:
- Chorion biopsy - performed from the 10th to the 14th week of gestation. For the study, cells are used that later form the placenta. The risk of possible consequences in further gestation is 1% and is not higher than the population risk.
- Placentobiopsy - performed in the period from 3 to 5 months and placenta cells are used for analysis. The further risk is 0.3%.
- Amniocentesis - performed in the period of 4-5 months on amniotic fluid, for this, a puncture of the amniotic sac is made.
- Cordocentesis - performed from the 5th month until the birth of the child. For this, blood from the umbilical cord is used. The risk of complications for continuing pregnancy is 3.3%.
- Fetal tissue biopsy is performed from the 14th week on fetal tissue cells. But this is a very rare diagnostic method.
Treatment
Today, therapy consists only of relieving symptoms; a complete cure for the pathology is impossible.
Antiparkinsonian drugs are prescribed that relieve muscle spasms and eliminate hyperkinesia: bromocriptine, levodopa, pergolide, valproic acid.
Prozac, Zoloft, and citalopram are prescribed to eliminate depression and sleep disorders.
For aggression and anxiety, patients are prescribed atypical antipsychotics: risperidone, clozapine, amisulpride.
Tetrabenazine is considered a complex drug that combats most manifestations.
Patients undergo physiotherapy under the supervision of a neurologist, psychologist and therapist.
Prevention
Since the disease is related to genetic defects, there are no preventive measures against it. If there is a suspicion or a high percentage of manifestation of the deviation, it is recommended to conduct early diagnostics in the form of DNA analysis to identify the mutating gene and Doppler sonography of the brain. This will allow the defect to be identified at an early stage and early symptomatic treatment to be carried out.
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