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Genetic testing for autism - a chance to find out the cause of the disorder

It is estimated that in 25-35% of children with autism spectrum symptoms, a specific cause of disorders related to changes in the genetic material can be identified.

Every child with symptoms from the autism spectrum, Asperger's syndrome or with intellectual disorders, in addition to neurological and psychiatric consultation, should also be subject to genetic consultation.

Why is it so important? Because the detection of the genetic cause of disorders in an autistic child allows parents and doctors to take care of its further development in the best possible way.
What does modern genetic testing of autism do for?

the opportunity to gain some knowledge of what kind of disorder we are really dealing with,
the possibility of carrying out a very wide so-called differential diagnosis. This means checking many potential genetic causes of disorders in one analysis. This is a huge time-saver and means you get treatment quickly.
avoiding the so-called diagnostic procedure - that is, the need to perform many tests that exclude further suspicions,
a chance to introduce effective treatment and individually selected therapy,
a chance to predict the further progress of the child's development,
estimating the risk of falling ill in the closest family members.

Make an appointment now - to the attending geneticist in our hospital

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What genetic testing for autism can be done?


"AUTISM MAX" test PACKAGE
- the widest package of tests for detecting the genetic causes of autism on the market. Contains:

The WES (Whole Exome Sequencing) study, i.e. the analysis of all known coding regions of human genes (about 23,000 genes) in the direction of changes that may cause autistic symptoms, Asperger's syndrome or intellectual development disorders. The WES test is the most modern and the most comprehensive genetic test that can be performed in a simple way for the patient.

+ CNV lesions (microdeletions and microduplications within the examined exome). This range is similar to the microarray test.

+ FRAX test (fragile X chromosome - screening to detect repeat expansion (CGG) n in the FMR1 gene) - IN THE PACKAGE FOR FREE!

The 'Autism MAX' test package is a check of, inter alia, the following genetic causes of autism:

brittle X chromosome,
microdeletions and microduplications on chromosomes,
metabolic diseases (including phenylketonuria, homocystinuria),
Rett syndrome,
tuberous sclerosis,
Sotos syndrome,
Cowden syndrome,
Smith Lemli and Opitz syndrome,
Joubert's syndrome,
Timothy's team,
DiGeorge syndrome,
Williams and Beuren syndrome,
Cri Du Chat Team,
Charge team,
and hundreds of other genes associated with intellectual disorders.

What else is included in the 'AUTYZM MAX' package?

changes in genes of uncertain pathogenicity are reported, the so-called 'VUS' - i.e. very rare changes,
if the patient agrees, he / she may receive information about changes in genes posing a risk of diseases not related to the symptoms (e.g. a tendency to elevated cholesterol levels, elevated iron or copper levels, and hundreds of others),
it is possible to update the result with the latest medical reports in the future,
result in a maximum of 10 weeks!
venous blood is the test sample - we organize a sample collection at the patient's home or at a nearby clinic
price: PLN 5,870

"BASIC AUTISM" PANEL
The "BASIC AUTISM PANEL" study is a panel of 224 selected genes which, according to the latest scientific reports, may be responsible for the symptoms of the autism spectrum. The test is performed using the NGS (next generation sequencing) technology.

the test result is issued in a maximum of 10 weeks!
venous blood is the test sample - we organize a sample collection at the patient's home or at a nearby clinic
price: 3 887 PLN

MICROMARIA TESTING (MOLECULAR CARIOTYPE)

This study analyzes microdeletions and microduplications at the chromosome level, including the high sensitivity of 227 genes related to symptoms of autism and intellectual disorders. Method of execution: aCGH for microarrays.

The patient receives the test result in a maximum of 6 weeks!
venous blood is the test sample - we organize a sample collection at the patient's home or at a nearby clinic
price: 2 600 PLN

Epilepsy genetic testing - see what you can do to find out what causes your seizures

It is estimated that up to 60% of patients experiencing seizures may be caused by genes.

What does it mean? More than half of the patients can have some information on where their health problems came from and what is the best way to treat them! Knowing the specific genetic cause of epilepsy allows you to adjust the individual choice of drugs and therapy. So that the treatment is as effective and safe as possible.

Make an appointment now - to the attending geneticist in our hospital

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What genetic tests for epilepsy can be performed?


Modern genetic tests are now available that will check hundreds of possible causes of epileptic seizures in one analysis. In many cases, this saves time and minimizes the time needed to introduce individual treatment.

  • Study of "Epilepsy MAX"
    - is the most extensive genetic test for epilepsy available on the market.

It includes checking the entire exome (WES), i.e. all known human genes for individual symptoms of epilepsy. The WES test checks hundreds of genetic causes of epilepsy with one analysis. After receiving the result, the patient has confidence that epilepsy is caused by changes in genes (and if so by what). The WES test analyzes each gene with the greatest possible accuracy - even very rare mutations in the genes are reported.

Thanks to the WES survey you will learn about, among others genetic causes of epilepsy such as:

Dravet syndrome (all genes and changes associated with this disease),
metabolic diseases (a group of about 600 diseases that can cause seizures),
tuberous sclerosis,
Rett syndrome.

What else is included in the package "EPILEPS MAX"?

  • CNV changes (microdeletions and microduplications within the examined exome) towards the causes of epilepsy. This range is similar to the microarray test - not every WES test available on the market will show such changes, and they are particularly important in the diagnosis of the causes of intellectual disorders and epilepsy,
    the study reports changes in genes of uncertain pathogenicity, the so-called 'VUS' - changes that are very rare,
    on request, the patient can receive information about mutations posing a risk of diseases not related to the current symptoms (e.g. a tendency to elevated cholesterol levels, elevated iron or copper levels, and hundreds of others),
    the patient has the option of updating the result in the future with the latest medical reports,
    the test result is issued in a maximum of 10 weeks!
    venous blood is the test sample - we organize a sample collection at the patient's home or at a nearby clinic,
    price: PLN 5,870.

  • Study "BASIC EPILEPS"

The "BASIC EPILEPS" study is a panel of 132 selected genes which, according to the latest scientific research, are responsible for the symptoms of epilepsy. The test is performed using the NGS (next generation sequencing) technology.

the test result is issued in a maximum of 10 weeks!
venous blood is the test sample - we organize a sample collection at the patient's home or at a nearby clinic,
price: 3 887 PLN.

  • Testing for the selected genetic disease

In this test, performed with NGS technology, any genes (up to 9 genes) indicated by a specialist can be selected. The test can be performed when a specific genetic disorder is suspected (the patient's symptoms strongly suggest it) or when the rhodium disease is hereditary and is diagnosed in the patient's family.

the test result is issued in a maximum of 6 weeks!
the test sample is a cheek swab - we organize a sample collection at the patient's home or a nearby clinic, you can also take the swab yourself,
price: 2 750 PLN.

 

Source:

[1] Dorota Hoffman-Zacharska, Encefalopatie padaczkowe – diagnostyka następnej generacji, Zakład Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa DOI:10.20966/chn.2017.52.396

Celiac disease - what is this disease?


Celiac disease is an autoimmune disease with a genetic background. It is caused by a malfunction of the immune system - as a result of which the body attacks its own tissues. This situation is caused by gluten, and more specifically its intolerance. Gluten is a grain protein found in wheat, rye, and barley. This means that it is present in most everyday products such as, among others. bread, pasta, cold cuts. For people with celiac disease, gluten is a real poison. It causes the disappearance of very important for humans - intestinal villi, which are responsible for obtaining nutrients from food. The direct causes of the impairment of the digestive system are deficiencies, malnutrition and malabsorption, which lead to very serious health consequences.

Make an appointment now - to the attending geneticist in our hospital

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Celiac disease - causes, symptoms


Celiac disease is primarily a genetic disease. It occurs in people who have the genotypes that determine its appearance: HLA DQ2.2 and / or HLA DQ2.5 or HLA DQ8. Numerous studies indicate that celiac disease may be associated with a hereditary burden.

Many people associate celiac disease primarily with gastric problems (diarrhea, abdominal pain, etc.). However, these kinds of symptoms appear in a relatively small number of patients. In fact, it is said that everyone has a different celiac disease. There may be anemia, fatigue, miscarriages, headaches, infertility or skin problems, for example.

What tests for celiac disease should be performed?

It is best to start the diagnosis of celiac disease with genetic tests recommended by the European Society of Pediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN) as an effective method of diagnosing celiac disease.

TestDNA Laboratory testing for celiac disease includes the haplotypes: DQ2.2 (DQA1 * 02, DQB1 * 02), HLA DQ2.5 (DQA1 * 05, DQB1 * 02), HLA DQ8 (DQA1 * 03, DQB1 * 03).

In addition to the broadest scope of examination for celiac disease, the patient also receives recommendations from a doctor and a clinical dietitian for the result.

Genetic testing for celiac disease - why is it worth doing?


The lack of the DQ2.2, DQ2.5, DQ8 genes on the genetic test result means that we can complete the diagnosis of celiac disease in the first step, which saves us time and money. In addition, the gout test for celiac disease is a test whose result is not influenced by external factors such as the stage of the disease, age or a diet low in gluten. If the analysis shows the presence of at least one of the genes, the second step is to perform blood tests for antibodies. With the complete set of these results, you should see your doctor for diagnosis. Genetic testing for celiac disease is also very simple. The sample for celiac disease is a smear on the inside of the cheek. Moreover, this test is performed only once in a lifetime - there is no need to repeat it, because our genes do not change. Celiac disease is a hereditary disease, so information about whether we have genes responsible for the disease is also a diagnostic clue for our closest family members.

What is included in the DNA test for celiac disease:

A wide range of studied genes - DQ2.2, DQ2.5, DQ8 in the α and β subunit
test result in 7 business days
The test result also includes written medical and dietary recommendations, and with a positive result - additionally an exemplary gluten-free menu.
The test is covered by the sample guarantee
The price of a celiac disease test is PLN 297.

The patient can also perform the examination in express mode (result in 5 working days) - price PLN 377.

You can also carry out a package examination with lactose intolerance - the "Healthy Gut" package for PLN 494.

test for celiac disease - PLN 297

Lactose intolerance test - PLN 297

Healthy Intestines package PLN 494

Wiele dzieci w okresie przedszkolnym może cierpieć na częste infekcje bakteryjne i wirusowe. U większości z nich jest to okres ‘przejściowy’, w trakcie którego układ odpornościowy jeszcze się wykształca. Po jakimś czasie dziecko po prostu ‘wyrasta’ i przestaje często chorować.

Jeśli jednak infekcje są bardzo częste, ich objawy są intensywne, a leczenie antybiotykami nie zawsze przynosi oczekiwane rezultaty, należy rozważyć wykonanie badania w kierunku Pierwotnych Niedoborów Odporności (PNO). Jest to szczególnie wskazane, jeśli oprócz częstych infekcji u dziecka pojawiają się również objawy alergiczne, zakażenia grzybicze, ropnie, czy częste infekcje układu pokarmowego.

Szacuje się, że nawet 80% przypadków pacjentów z Pierwotnymi Niedoborami Odporności pozostaje niezdiagnozowanych!

Umów wizytę teraz - do genetyka przyjmującego w naszym szpitalu

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Diagnoza Pierwotnych Niedoborów Odporności to szansa na leczenie

Pierwotne Niedobory Odporności to grupa około 300 chorób genetycznych. Sprawiają one że w układzie odpornościowym dziecka brakuje określonych przeciwciał, przez co organizm nie może sobie poradzić z patogenami i dochodzi do zakażenia. Choroby te długo mogą nie dawać żadnych objawów lub ich objawy są niespecyficzne – mogą nimi być chociażby wspomniane częste infekcje. Bardzo ważne jest określenie nie tylko czy dziecko cierpi na Pierwotny Niedobór Odporności, ale z jakim rodzajem PNO mamy do czynienia. Tylko na tej podstawie w wielu przypadkach możliwe jest ukierunkowane, refundowane leczenie. Polega ono najczęściej na dożylnym podawaniu brakujących przeciwciał. Leczenie może zapobiec częstym infekcjom, a także groźnym powikłaniom: sepsie czy zapaleniu opon mózgowych. Pozwala więc na normalne życie dziecka.

Dziecko często choruje? Wykonaj najszersze badanie w kierunku PNO

Ponieważ Pierwotne Niedobory Odporności to schorzenia genetyczne, ich pewną diagnozę można podstawić na podstawie badań DNA. Najszerszym i najdokładniejszym badaniem sprawdzającym Pierwotne Niedobory Odporności jest badanie WES (sekwencjonowanie całoegzomowe). Pozwala ono w jednej analizie sprawdzić geny związane z około 300 rodzajami PNO.

  • Badanie WES sprawdza około 23 000 znanych genów – analiza jest przeprowadzana indywidualnie pod kątem objawów występujących u pacjenta,
  • próbka do badania: krew lub wymaz z policzka (umawiamy Państwa na pobranie próbki do badania w placówce),
  • czas oczekiwania na wynik: do 10 tygodni,
  • jeżeli pacjent wyraża zgodę, może uzyskać informację o ryzyku zachorowania na inne schorzenia genetyczne niezwiązane z obecnymi objawami lub rodzinnym obciążeniem genetycznym. Daje szansę na wdrożenie działań profilaktycznych i nie dopuszczenie do rozwoju objawów choroby,
  • do raz wykonanej analizy genów można powrócić przyszłości (bez konieczności ponownego pobrania próbek). Dzięki temu można sprawdzić, czy stan wiedzy medycznej nie uległ zmianie i czy nie stwierdzono nowych mutacji, które mogą być przyczyną niepokojących objawów,
  • cena: 5 497 zł

Badanie WES – czego nie sprawdzi?

Należy pamiętać, że jak każde badanie genetyczne – również badanie WES ma swoje ograniczenia, wynikające głównie z możliwości technologicznych. Raportowane zmiany w materiale genetycznym obejmują mutacje punktowe w genach i zmiany CNV (tzw. copy number variants). Są  one przyczyną większości chorób o podłożu genetycznym, w tym Pierwotnych Niedoborów Odporności. Badanie WES nie raportuje jednak zakresu standardowego badania kariotypu, ani tzw. mutacji dynamicznych w genach. Należy pamiętać, że to do lekarza prowadzącego (genetyka) zależy ostateczna interpretacja wyniku i wpływ wykrytej mutacji na występujące objawy kliniczne u pacjenta.  

Headaches are very common in people of different age groups, regardless of gender, health or life situation. It is a type of subjective pain that occurs within the head in the outer part (orbital-temporal part of the head) and in the inner part (deep inside the skull). It is the most common disease, the basis of which can be very diverse, as well as its course. Pain may take various forms, last longer or shorter, and vary in intensity depending on the case and the person. Sometimes a headache is just a symptom of a more serious illness. It is estimated that only 15% of people suffering from headaches out of more than 90% of people (who have this condition at least once a year) struggle with recurring pain of a disease that can form the basis of medical control.

Make an appointment now - to the headache management at our hospital

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The reasons

A headache can be caused by many factors and for many reasons. To a large extent, it is based on the simplest grounds, such as fatigue, sinusitis, the effects of alcohol consumption or lack of sleep. A head injury may also be a reason for the appearance of a headache. Pain is felt as a result of irritation of peripheral pain receptors, regardless of the factor causing this effect. In most cases, the organism reacts immediately to pain, trying to locate the source and eliminate the cause. Sometimes, however, when trying to eliminate the problem, the pain-sensitive peripheral tracts are damaged. As a result, the pain may affect elements such as the scalp, dural sinuses, the sickle of the brain, proximal sections of the large arteries of the dura mater, and the departure of larger arteries - these are structures within the head that are prone to pain.

Autonomic symptoms are nasal congestion or lacrimation. They appear as a result of inappropriate stimulation of the parasympathetic fibers of the cranial nerves.

Headache can also occur as a result of other clinical diseases or psychotic conditions, such as depression.

Migraine

Headache is a characteristic symptom of a chronic condition such as migraine. However, among the symptoms of migraine, the most common are also vegetative disorders, such as nausea, dizziness, photophobia and visual disturbances. With migraines, very often movement and changes in the head position contribute to the aggravation of the pain.

The migraine attack usually lasts from 4 to 72 hours, during which the pain may vary. The frequency of migraine attacks per year varies - it can be a single attack or even several attacks per month. Migraine attacks are classified into three categories according to the pain level and the patient's performance during their duration. These are: mild migraines, during which the person is able to function normally, although it is harder for him to do so; medium - when the patient is unable to perform his daily tasks; heavy - requiring bed rest.

Migraine usually takes two forms:

  • Migraine without an aura

It is a type of pain of moderate or very severe intensity. It spreads in a pulsating manner, most often covering the area of ​​the middle of the head in a variable manner. Migraine without an aura is characterized by intense pain in the area behind the eye and vegetative disorders.

  • Migraine with aura

It is accompanied by neurological symptoms that occur in a variable manner before the onset of the headache. Pain usually appears after several or even several dozen minutes. The aura is about the ailments that come along with a migraine attack. The most common is the visual aura, which is characterized by the appearance of flickering spots or lines in the field of vision (bilaterally or unilaterally). Rarely do you experience blindness or aphasia. There may be numbness in the hand or face. The aura is short-lived and precedes the onset of a pain attack.

The pathogenesis of migraine is not fully known, but it is believed to arise from an inappropriate response of the neurovascular system to the received external and internal stimuli. It is presumed that this is due to a genetic condition, corresponding to a disturbance in the work or structure of ion channels. The disease is chronic and may accompany the patient for the rest of his life, although it is likely to weaken over time.

It is best for a sick person to simply avoid the factors that lead to the appearance of a migraine state. Conventional medicine proposes two pathways to tackle the problem of migraine. The first is pharmacological treatment based on non-narcotic analgesics, acetylsalicylic acid, triptans, ergotamine and paracetamol. Until the early 20th century, ergotamine was considered the most effective treatment for migraines. The second treatment option is prophylactic pharmacotherapy, primarily using β-blockers, antiepileptic and antidepressant drugs, and non-steroidal anti-inflammatory drugs.

Tension headache

The most common type of headache known as common, stress, or psychogenic headache. The affliction affects more women than men. Contrary to migraine, it is incidental and does not take the form of seizures. The pathogenesis of the disease is not clearly defined, but the factors contributing to the development of tension headache are known. Factors conducive to the development of ailments include, among others: stress, depression, exhaustion, lack of sleep, anxiety and strong emotions. Tension headache only affects the central nervous system, not touching the peripheral components as is the case with migraine.

The condition takes the form of a compressive, spontaneous headache occurring on both sides. The pain most often affects only the area of ​​the forehead, temples or the back of the head. The feeling increases with physical activity. Often the pain is associated with muscle spasms in the neck, shoulder or coif. Rarely, there is also photophobia or nausea. The pain is moderate and rather oppressive and dull. It may take an hour and may even tire the patient over a period of several days.

The three most common forms of tension headache are:

  • Episodic headache - this occurs extremely rarely, about once a month;
  • Frequent headaches - occur relatively frequently, up to 15 times a month;
  • Chronic headaches - occurring every day or almost every day.

Tension headache treatment is a troublesome process due to the multitude of causes of pain and the lack of effective, unequivocal management. As in the case of migraine, there are two treatment options - prophylactic and emergency. Emergency treatment is significantly similar to the method of migraine treatment and is based on the intake of acetylsalicylic acid or paracetamol, ibuprofen, and diclofenac. For severe pain, prescription antidepressants (such as opipramol or amitriptyline) or anxiolytics (benzodiazepines) are used. The preventive treatment path is based on relaxation techniques, psychological support and methods to improve mood. However, the prophylactic treatment route has no proven clinical properties to improve the condition of patients with this condition.

Cluster headache

A cluster headache is a type of pain that affects only one side of the body. It is accompanied by autonomic symptoms, also only in the middle of the body. The most common form is in the form of short-term pain stabs in the orbital area. Cluster headache occurs each day as usually a few short attacks over a period of 4 to 8 weeks. There are about one-year breaks from seizures between painful periods. Each seizure may last up to 180 minutes.

The basis of cluster headache formation is not fully understood. However, imaging studies have shown that chronic disease is associated with increased activity of the hypothalamic nuclei and stimulation of the C fibers of the trigeminal nerve system.

In the treatment of ailments, drugs from the triptan group are most often used, as well as oxygen therapy. The treatment process has two paths - the first is short-term treatment, immediately after the end of the seizure and lasting up to 3 weeks, and the second option is chronic treatment. In the course of chronic treatment, salts are used, among others topiramate, baclofen or lithium. A risky but effective treatment method in this case is surgical intervention. During the procedure, the trigeminal nerve is damaged mechanically or with the use of alcohol injections. However, this procedure is associated with many complications, e.g. the appearance of permanent nerve dysfunction in the form of lack of sensation in the face area or corneal ulceration.

Source

  • https://ichd-3.org/classification-outline/
  • Prusiński A., Miejsce nowoczesnych niesteroidowych leków przeciwzapalnych (NLPZ) w leczeniu bólów głowy . „Medycyna i życie”, reprint z Vol. 5/Nr 3 (16), 2012 , s. 6.
  • Prusiński A.: Bóle głowy. Red. B. Pec. Warszawa: PZWL, 1999.
  • Prusiński A.: Leczenie migreny i innych bólów głowy. Poznań: Termedia, 2010.
  • Stępień A.: Bóle głowy. Warszawa: Medical Tribune, 2008.
  • Szczeklik A.: Choroby wewnętrzne: stan wiedzy na rok 2010. Kraków: Medycyna Praktyczna.

One of the most common neurodegenerative diseases in society is Parkinson's disease, which affects most people over the age of 50. It is estimated that this condition affects 0.15% of the population, and as much as 1.5-2% among the age group over 70 years of age. Studies have shown that Parkinson's affects men more than women.

The disease was first diagnosed and described by the British physician James Parkinson in 1817. However, the original name of the disease was paramedic tremor, and it described the characteristic symptoms associated with motor skills problems. Information describing the condition was first included in Parkinson's work, An Essay on the Shaking Palsy. The term "Parkinson's disease" was introduced into use only by the French neurologist Jean-Martin Charcot. Konstantin Tretiakoffow in his 1917 doctorate described for the first time the influence of changes in the substantia nigra on the course of the disease development. On the other hand, a breakthrough discovery about the biochemical changes responsible for the development of the disease was made by the Swedish biochemist, Arvid Carlsson. In 2000, the scientist was awarded the Nobel Prize for this discovery important for medicine. In the works published in 1960 by Ehringer and Hornykiewicz, the particularly important role of dopamine (a neurotransmitter) in the pathogenesis of the disease was presented.

Parkinson's arises as a result of the neurodegeneration of the structure of the midbrain or the central nervous system. The aging of the substantia nigra and the gradual loss of cells in the substantia nigra occurs too quickly, as a result of which the level of dopamine in the brain decreases. However, the process of developing Parkinson's disease is much more complex in reality and is influenced by many environmental and genetic factors, including oxidative stress and free radicals.

During the development of Parkinson's disease, the structure of the brain is disrupted by the accumulation of deformed α-synuclein protein in the form of inclusions (called Lewy bodies) in nerve cells, which leads to cell death by apoptosis (programmed cell death). This is most often due to the genetic makeup of Parkinson's disease. Most neurodegenerative diseases support the malformed protein theory, as is also the case with most prion diseases. Protein misconformation follows a cascade of adjacent protein molecules. Tests carried out on an animal model have shown that the abnormal synuclein molecule, as a result of the transformation of the α conformation, changes into the β-sheet arrangement, which leads to the defect being transferred to the remaining synuclein molecules. As a result, the protein transformed into the β form accumulates in the form of β-amyloid and accelerates the process of cell death. Cell death in the black matter causes a high drop in dopamine in the striatum (part of the forebrain). The normal level of this neurotransmitter decreases in each decade of a healthy person's life by an average of 6-8%, amounting to 40-60% in the 60th year of life. However, in the case of disturbances in the structure of proteins caused by Parkinson's disease, this threshold is much lower, because, based on pathomorphological and biochemical studies, it appears that the first clinical symptoms of the disease develop at the dopamine level of about 20%.

Make an appointment now - with the Parkinson's doctor at our hospital

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Parkinson's symptoms

One of the most basic symptoms of Parkinson's disease is slowness of movement (or bradykinesia), postural disturbances, increased plastic-type muscle tone, and resting tremor. It also contributes to the frequent occurrence of micrographs or, more simply put, changes in handwriting due to greater muscle stiffness. Vegetative ailments such as seborrhea, constipation and drooling are also very characteristic of Parkinson's. At the same time, the aforementioned autonomic symptoms, which are preclinical, may precede the most characteristic features of the disease (movement problems) by up to a decade. This is evidenced by the pathomorphological picture of the brain obtained in the course of Braak's research, in which individual stages of neurodegeneration in Parkinson's disease were distinguished and the initial place of this degeneration in the olfactory bulb and dorsal nucleus of the vagus nerve was determined. The problems with the sense of smell often belong to the group of preclinical symptoms, occurring long before the actual symptoms.

Methods and difficulties in diagnosing Parkinson's

Contrary to appearances, the diagnosis of Parkinson's disease is a complex process and is based primarily on clinical criteria. Symptoms typical of the disease may also be present in other conditions temporarily. The first priority is therefore to rule out the possibility of symptoms arising from the use of antipsychotics (neuroleptics) or from carbon dioxide poisoning. Parkinson's has a high level of recognition, ranging between 75-85%. The basic diagnostic method is a multicentre examination with the use of neuroimaging tests, on the basis of which it is estimated that the phenomenon may affect up to 47% of patients. However, a high percentage of the diagnosis may differ from the actual state due to the lack of additional clinical tests that could confirm the diagnosis.

Unfortunately, many diseases presently exhibit parkinsonism-like symptoms that lead to neuroimaging studies due to suspicion of Parkinson's disease. First, a distinction needs to be made between Parkinson's and ailment-like illnesses. The main conditions impersonating Parkinson's syndrome are a tumor in the frontal lobe (similar to Parkinson's with slowness of movement), depression or essential tremor symmetrically present in specific positions (such tremors are reduced under the influence of alcohol and increased under stress, while parkinsonian tremor occurs in a state of muscle relaxation). A completely separate category is atypical parkinsonism, because apart from parkinsonian syndrome, there are also a number of additional ailments, including primarily disorders of the autonomic system (orthostatic hypotension or multiple system atrophy), memory disorders, the symptom of "foreign hand" (the patient's hand is not only trembling, but also independently performs uncontrolled movements), dementia, corticobasal degeneration, oculomotor degeneration or supranuclear palsy. In order to exclude other conditions that coincide with Parkinson's symptoms, neuroimaging tests are used, mainly brain magnetic resonance and computed tomography.

In the diagnosis of Parkinson's disease, isotope markers are used, which enable the neuroimaging method of SPECT / CT scintigraphy (Single Photon Emission Computed Tomography) and the assessment of the extrapyramidal system in Parkinson. The study uses ioflupane labeled with I-123 iodine, thanks to which it is possible to confirm parkinsonism at the confidence level of 97%. SPECT / CT images are acquired 3-6 hours after administration of the radiopharmaceutical and last from 30 to 45 minutes. Since 2019, this method is also available in Poland (a radiopharmaceutical with its own name DaTSCAN®), but due to the high costs, the test is performed in a limited number of centers.

Parkinson's treatment

Due to the imbalance in the body between the cholinergic and dopaminergic systems, the basis of Parkinson's treatment is the stimulation of the latter system in order to increase the level of endogenous dopamine or block its metabolism, thanks to the appropriate blockade of the enzymes that break down dopamine monoamine oxidase and COMT (catechol - O-methyltransferase). ). Levodopa, which can be considered a dopamine protoplast, travels through the bloodstream to the brain, converting into dopamine to make up for the neurotransmitter deficiencies. Levodopa was first used in such a process more than 40 years ago, which has proved to be a breakthrough in today's Parkinson's treatments. In the treatment with levodopa, it is important to gradually increase the dose. Thanks to this, side effects of the therapy in the form of pressure surges and nausea should not appear. Unfortunately, levodopa is short-acting and is rapidly broken down in the body, so it must be given several times a day to maintain a stable effect. It is very important in the case of the advanced form of the disease, because the physical condition of the sick person depends mainly on taking the drug due to the large deficiencies of dopamine. Currently, it is not recommended to support therapy with anticholinergic drugs, as they are believed to have a negative effect on the memory of patients.

The drug used in the treatment of Parkinson's is also ropinirole, which has a prolonged stimulating effect on the dopaminergic system. The drug is released gradually and longer than levodopa, and in addition, it does not have to be administered several times a day, and the patient is not forced to maintain a schedule taking into account the time of meals. Ropinirole is used frequently in people with advanced Parkinson's disease, a so-called dopaminergic receptor agonist, who are experiencing side effects. The most common are limb edema and drops in blood pressure. Unfortunately, ropinirole, unlike levodopa, is more likely to contribute to the appearance of psychotic symptoms. It is not recommended for patients with dementia syndrome as it may aggravate their condition.

The main aim of Parkinson's treatment is to restore continuous dopaminergic stimulation in the brain, most often using one of the two basic methods - stimulation by administering primary dopamine or by blocking dopamine metabolism in the body. In the case of attempts to stop the metabolism, the COMT inhibitor or selegiline and rasagiline (monoamine oxidase B inhibitors) are most often used - they slow down the progression of the disease.

Source:

  • Astrid van der Made. α-Synuclein aggregation in Parkinson’s disease, Utrecht: Utrecht University, 2011.
  • Gaweł M., Potulska-Chromik A., Choroby neurodegeneracyjne: choroba Alzheimera i Parkinsona, „Postępy Nauk Medycznych”, t. XXVIII, nr 7, 2015, s. 468-476.
  • Hornykiewicz O., The discovery of dopamine deficiency in the parkinsonian brain, „J Neural Transm” 70, s. 9–15.
  • Hye GyeongSon, Eun Ok Cho, The Effects of Mindfulness Meditation-based Complex Exercise Program on Motor and Non-Motor Symptoms, and Quality of Life in Patients with Parkinson’s Disease, „Asian Nursing Research”, 2018.

Kontakt

ul. Dworska 1B, 30-314 Kraków
rejestracja@dworska.pl


Szpital Dworska - Kraków

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Monday:
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Tuesday:
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Wednesday:
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Thursday:
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Friday:
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Saturday:
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Sunday:
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Parking next to Dworska Hospital - entrance from the Bułhaka street