"Why do we have such a strange disease, we even can't find the cause of the disease, countries do not attach importance to us? Or really no cure?
How we are so unlucky, and the wonderful times we just be spoilt. Also, the same to our bright future. We live only a fool, suffering... "
PKD group of patients invitation to me, as a PKD medical researchers to write an article for the disease to science propaganda manuscript. I have little talent and less learning, but the teacher education scientific research should apply throughout the year, medical research should be saving lives, so I read the information retrieval, database, written in a bold, I hope this article can be helpful to you PKD patients.
Seizure induced movement disorders (Paroxysmal Kinesigenit Dyskinesia, PKD), formerly known as Paroxysmal movement induced brothers dance movement disorder xu (Paroxysmal kinesigenic Choreathetosis, PKC), 10 Dystonia (10, Dystonia DYT10), the prevalence of about 1 ~ 9/1000000 (data derived from rare diseases authoritative website orphanet), according to the world health organization (who) definition of rare diseases, PKD is a kind of typical rare diseases. Divided from the source of the disease, the PKD is pided into primary PKD and secondary PKD. Secondary PKD mean the PKD is secondary to other diseases, such as cerebrovascular disease, multiple sclerosis caused damage to certain brain regions, such as secondary PKD. And primary PKD is due to genetic mutation or other unknown causes of PKD DNA level, is not caused by other diseases. A simple example to study, for example, some students bad grades, is caused by the domestic misfortune, that is secondary bad grades; But some students doing poorly, because itself has no interest in learning, this is the primary result is bad. Due to the primary PKD accounts for most of PKD, this article revolves around the primary PKD, the below-mentioned PKD without special refers to the primary PKD.
Most of the patients with PKD starts in teenagers, attack is very characteristic, changes induced by of motion state, the typical scenario, such as: the race start, suddenly stood up to answer the question, sudden acceleration after buses, behind shout name suddenly look back, even some patients only bump action of ideas can also induce seizures. Many patients had obvious feeling before attack, such as numbness, weakness, etc., but most of the attacks feeling indescribable. Attack sample forms include dystonia, dance movement, athetosis, or any combination of all three, affects the face, trunk and limbs, but in the majority with limbs. Attack last a few seconds to tens of seconds, more than 1 minute is rare. Tired, cold, anxiety, and can increase the attack, attack increased frequency. The onset of disease frequency increase gradually with age, generally to adolescence peak, frequent attacks of patients can reach hundreds of times a day. With age growing, usually between the ages of 20 ~ 30 onset frequency decreases, the vast majority of patients in a certain age. Most of the patients with PKD against epilepsy drug treatment effect is very good, small doses of carbamazepine can complete control of seizures.
PKD have obvious hereditary, according to statistics, about seventy percent of patients for genetic patients, a member of directly derived from both parents, for sending out the remaining thirty percent of patients, meaning no genetic history in the family. Hereditary PKD is autosomal dominant genetic disease, is caused by a specific genetic mutations, in the process of genetic disease with genetic mutations have no difference between men and women with fifty percent probability; Send out patients, there are a small number of patients is the beginning of the genetic, the PKD will with fifty percent probability genetic difference, men and women the other part of the genetic mechanisms of patients is unknown, but male and female, more about 4:1. 2011, through unremitting efforts, with my tutor professor tang north sand as the core of xiangya hospital, central south university research team found the PKD PRRT2 pathogenic gene, the gene encoding protein is rich in proline transmembrane protein 2, the most common mutations in coding sequence position insert C base mutations. 650-649. Alas, the person is how elaborate creatures, most of the patients with PKD just because in the special place more than normal for a base.
There are quite a part of the PKD patients, in addition to the onset of adolescence dyskinesia, also had history of epilepsy in infancy. The Infantile seizures of epilepsy, called Benign Familial baby epilepsy (Benign Familial Infantile Seizure, BFIS), as the name implies, is a kind of Benign epilepsy BFIS, would be concentrated in a few days, but for the baby's intelligence, spirit, and other sports development without any influence, absolute self-healing before the age of 3. If a patient, infants suffering from BFIS, teens have PKD, this kind of situation is called baby xu Convulsions with hand, foot and dance movement disorder (Infantile Convulsions and Choreoathetosis, ICCA). So far, most of the BFIS and ICCA are caused by PRRT2 gene mutations, in other words PRRT2 mutations can lead to the same person at different age suffer from two kinds of benign disease. It is worth mentioning that, according to current PRRT2 mutations can also cause such as onset of exercise induced movement disorders (Paroxysmal NonKinesiogenic Dyskinesia, PNKD) keep on moving, seizure induced dystonia (Paroxysmal Exertion induced Dyskinesia, PED), Familial Hemiplegic Migraine (Familial Hemiplegic Migraine, FHM) and other diseases. Don't work, for example, an ordinary little harm, but a king does not work will cease, visible PRRT2 is genes play an important role in the nervous system.
Any hereditary disease, its pathogenesis research must first from find gene, to protein unfolding again, cells, tissues, and animal studies. PKD gene discovered in 2011, so the specific pathogenic mechanism is not clear, but the research of "is in full swing. Currently on the pathogenesis of PKD have speculated that think PKD disease is associated with the dysfunction of basal ganglia region in the brain, the reason lies in: first, most of the secondary PKD, all have the damage to the basal ganglia, such as multiple sclerosis. Second, some clinical examination hint at the time of onset of PKD basal ganglia have change, such as blood flow perfusion has increased. Come up from theory speculates that the basal ganglia dysfunction was also really PKD disease the most likely suspect, is the design of motion controller in basal ganglia, mostly is a "brake". Got up and open the door, for example, normal people do this - in the design, most of the action in the basal ganglia this excess "brake" place is inhibited, and patients with PKD probably due to the dysfunction of basal ganglia, lead to unnecessary action is released. Above all, of course, is the indirect theoretical speculate that the ultimate answer to a riddle remains to be the detailed research to solve.
Science in front of the nature of the text said a lot, there are some professional obscure places, hope, take a closer look at the patients, details about PKD the disease. The following text, mainly some of doctor-patient communication.
To go back to the beginning of the article, from the short post bar, which is full of self-pity, being bitter mood, before I met patients, the inside of the PKD group of patients, and even so self-injury, drugs, I see these patients, the first thing I feel is angry: I can't understand PKD so a benign disease, the person's intelligence, health, life does not have any influence, how can abandon at this point, if I have my own child, I saw him to write such words, I will give him two slap in the face. But to calm down, I think PKD patients have such idea is understandably, PKD squarely in the age of onset, peak age youth, adolescence, flower of youth, bright like summer, yet fragile flower, is a sensitive, confusion, rebellious age. Wanted initially, oneself are not to laugh at excited because a girl for several days, might it not be the basis of the teacher scolded is not here right now? , how much more will these PKD patients in this age, the disease does not seem to understand, the secret of his hard, be others misunderstanding, how can you hard on their medical workers with us the correct view of this disease? So let me pick the text content as example, to explain a little bit.
"Why are we so strange disease", a friend, PKD is typical of rare diseases, is really rare. However, although a single rare disease prevalence is very low, very rare, but a total of 6000 ~ 8000 rare disease, the patient population is very large. According to statistics, the United States and Europe are each have 30 million rare diseases, in proportion to the whole of China at least 81 million rare diseases. So, my friend, the whole of China at least 81 million people have got a strange disease, this probability is very big. For example, write the authors of this article, I, is a rare disease, that can't be a surgeon.
"Even can't find the cause of the disease," friend, medical science and technology development so far, most of the disease, in addition to infectious diseases, did not find the reasons. High blood pressure? Diabetes? The tumor? Since the cause is unknown. Instead of taking an example of PKD rare diseases because mutations can be found on the DNA level, but its pathogenesis, causes the results more clear.
"Is the country we do not take the right", a friend, for rare diseases, domestic and abroad, are all very seriously, but from the urgency of disease, hazardous and medical care to a society pressure, as a kind of benign disease PKD, isn't that important. In 6000 ~ 8000 kinds of rare diseases, ninety percent of the rare disease is a serious disease, thirty percent of the rare disease live less than five years old. Pressure on social health care, are far less cardiovascular disease, hypertension, diabetes, alzheimer's, etc. Real countries need attention in patients with PKD, is medical workers to patients in mission work, let patients can correctly treat the disease.
"Or you don't really have to cure," friend, small doses of carbamazepine can fully suppress the PKD attack, this is a rare disease in rare disease treatment effect is very good. Most of the rare disease, it is no medicine can cure, changing the disease process. In addition, or the two examples, the treatment of high blood pressure, diabetes, this kind of common disease, is far more complex than the PKD, effect and far less precise. In addition, PKD is a kind of self-healing diseases, in other words not treated will disappear by a certain age. There are many PKD patients say PKD treatment cannot be increased, I just want to say here, in addition to infectious diseases, please name a few examples of disease can be increased, I think it should be a little?
"How we were so unlucky", friends, or that sentence, the whole of China, 81 million people like you, and there are at least 70 million more luck than you will affect health and even cause damage, there are 20 million people live less than 5 years old than you more bad.
"Our wonderful time was spoilt, just like that. Also, the same to our bright future. We live only a fool, suffer..." , friends, day line, the gentleman, with an unyielding, please remember that person's lifetime, after the encounter setbacks, not less than suffering from PKD. Your bright future and grasp in their own hands, strong, confident, please, please, please self-respect despised PKD small stumbling block to the life on the road.
Because, you are a normal person, it is in the youth the years brake loose normal person!