14:53,7,Dec,2005 | (1283/0/0) | Original
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Muscle diseases of childhood caused by children, it is still one of the main factors of disability. Science in the rapid progress of genetic level, so that doctors can more accurately diagnose and guide patient care. Scientists congenital, Duchenne, Becker, limb-girdle muscular dystrophy, etc. for a more in-depth exposition clearer understanding of the pathogenesis of these muscle diseases and the mechanism of progressive deterioration, making the medical intervention is more with logic and planning, as far as possible a quality of life of patients and prolong life expectancy. Respiratory and cardiac function monitoring and therapy and proper nutrition, has become an important part of patient care. The future development of gene therapy and drugs can improve symptoms, is still the main direction of basic research.
About Duchenne Muscular Dystrophy
In 1987 scientists discovered the dystrophin gene defects cause Duchenne and Becker muscular dystrophy and had the main position, which for the positioning of other progressive muscular dystrophy gene defects foundation. Molecular level of DNA (deoxyribonucleic acid) testing has become a standard detection methods, especially for gene deletions and duplications caused by Duchenne patients (patients with Duchenne muscular dystrophy, 60 - 70%), but unfortunately detection of such molecular level of 4.5 at the age of the child do to be effective. Early diagnosis is important to the family of patients to receive expert advice and appropriate methods of care. To accept the basic knowledge of infant education and community staff to get in touch with the preschool child help early diagnosis. For example: When a child is 18 months, will not the ability to walk or run, jump worse than the average child, you should be CK (creatine phosphatase) serum examination.
After years of doubt and debate, the experts on patients with Duchenne muscular dystrophy treatment to alleviate symptoms, slow progression of the disease began to get more points on the consensus. A wider range of use of corticosteroids to improve muscle strength test, and concluded that corticosteroids can improve muscle strength, embodied in an extended walking time; 2, delay or reduce the spinal surgery; 3, to maintain respiratory function ; 4, cardiac function may have some protective effect. The role of prednisolone and deflazacort with less. But the long-term use of hormones have a strong clinical side effects. Prednisolone deflazacort more easily than fat and risk of cataract patients may (Based on this, the DMD patients in Brazil to parents looking for a joint investment of the same effect, but side effects of drugs). These two drugs are likely to cause osteoporosis, may cause vertebral fractures. Therefore, although hormone therapy can enhance muscle strength in patients with DMD, but must be closely monitored by a doctor to take. Experts are looking for alternative hormone, to reduce side effects. With the cause of Duchenne muscula
Of Duchenne muscular dystrophy patients with cardiac monitoring is very important so that the doctor is not in the patients before treatment of myocardial disease medical intervention. Finally, in patients with Duchenne muscular dystrophy respiratory function monitoring (including continuous monitoring of lung function decline, and, where necessary, use the breathing machine at night), has dramatically extended the life span of Duchenne patients so that patients do not die of adolescence then become inevitable. This kind of change in life expectancy will patients and their families on a positive impact.
Nursing patients with Duchenne muscular dystrophy the main points to note:
1, the early detection of Duchenne muscular dystrophy symptoms is an important part of preschool child-rearing;
2, corticosteroids may improve muscle strength, but must pay attention to the possible side effects;
3, to improve our Duchenne patients with worsening lung function, help improve the life of patients;
4, cardiac monitoring is necessary in order to identify problems and timely treatment, and some patients with worsening heart disease is no obvious symptoms.
Category: Duchenne muscular dystrophy
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First of all I am not a doctor by profession, be it a sick medical fans, I know I can only provide medical information, in addition to my experience, some news I can not check, for your reference only. First diagnosed with muscular dystrophy is not as muscular dystrophy, motor neuron disease, myasthenia gravis and other muscular system are very similar from the appearance, which doctors can be difficult to diagnose with the naked eye, which requires pathological report to confirm the diagnosis, such as phosphorus acid stimulated the activity of muscle enzymes, creatine phosphokinase (CPK), lactate dehydrogenase (LDH), myoglobin (Mb), aspartate transaminase (GOT) and other muscle enzymes were significantly increased, higher than the normal tens, even hundreds of times. Number of EMG potential, we need to do muscle biopsy is necessary. Diagnosis related to the treatment of each type of treatment and the development of myopathy is completely different. Facioscapulohumeral muscular dystrophy, congenital muscular dystrophy, limb-girdle muscular dystrophy muscular dystrophy are benign, they do not worry about life, almost no difference between life and normal people, but also basic to walk five or six years old, disease The development is very slow. Pseudo-hypertrophic muscular dystrophy Muscular dystrophy is the most serious, the serum enzyme (serum enzymes, such as phosphorus acid stimulated muscle enzymes, etc.) may prove to be higher than Duchenne, the serum enzyme (generally higher than healthy people 10-500 times) higher, the greater the likelihood, pseudo-hypertrophic muscular dystrophy of life and ability to walk, usually survive the ten years after onset, pseudo-hypertrophic muscular dystrophy and a type of benign development of pseudo-hypertrophic than normal muscular dystrophy and more to light, development is very slow. This is of course a doctor before making based on the conclusions of the previous cases, with the development of medicine, the conclusions of these life constantly extended. And the constitution and each patient's actual situation and the treatment and maintenance conditions are not the same, even if a doctor is difficult to determine the patient's specific life, they told the families of patients and the conclusions written in the medicine only on the statistical average of many years ago As a result, the rapid development of medicine today can no longer take it seriously. Existence of the body's muscle cells of various organs, play an important role, one can prove that the body in standing and walking on the 206 muscles in both normal muscle cells, muscle cells in diseases of the muscle fibers is less than normal, it emerged different pathological, the less muscle cells, the more limited human activity. As long as the dynamic, even a finger to illustrate the existence of muscle cells, muscle cells when the human body down to about 50% of normal subjects, patients lose the ability to walk, the moment reduced to only 30% of normal affect the patient's life. I am an ordinary pseudo-hypertrophic muscular dystrophy onset of 10 years of age, after years of treatment, 20-year-old was unable to walk, 28 years old this year, and 35-year-old also see in, are not the same. Other types of muscular dystrophy as well live up to 60 teenage. 20-year-old limit has been broken I do not know how many. Do not take medicine for muscular dystrophy is definitely not work, it is necessary to rational drug use, to be clear, plain drug, not to collect test, no one said that his medicine can be cured, you do not believe, to take medicine purpose of delaying the development of disease, gene therapy for the future and lay a good foundation. This is not a problem of one or two years, is long-term problems may be 10-20 years, all to long-term planning, one month can not exceed 50-80 per drugs, expensive drugs and cheap medicine for us not much difference. If the use of expensive drugs may be able to maintain the average family a few years, then the subsequent cost of treatment, the cost of patient care has been and the future costs of how to do gene therapy. This is a must to consider. Do not use the hormone, prednisone is the nerve stimulation drugs, side effects very, patients gain weight quickly, the patient's body but could not lose their ability to walk.
Long-term use in western medicine, there is no effect of short-term and long-term is not evident in the slow development of the disease and prolong life in patients with certain aspects of the role of gene therapy in Western medicine will win precious time. Therefore, when taking Chinese medicines should not be better to make the idea of disease, we should have a long protracted war preparations. Breakthrough in gene therapy before any treatment can only delay the disease development of expediency only dollars. To wait patiently while the development of medicine, while aggressive treatment to control and delay the disease's development. But not blindly and excessively high expectations of medical treatment efficacy, it is unrealistic. Should think long-term affordability of the family but with a number of economic, long-term use side effects of drugs. Such as the protection of cell membranes of vitamin E, nutrition and energy, increased muscle cell ATP, inosine, BT, coenzyme. Biphenyl JiangMei double fat, glycyrrhizin. Containing natural Vitamin E, easily absorbed Chinese gelatin. Increase the potential strength of Chinese medicine pill, and so vigorous tiger. In addition, I recommend that you use Chinese ants (I was studying ants, ants want to be progressive muscular dystrophy patients with long-term use and side effects of nutritional supplements, for the slow development of the disease play a role, the market is about 50 students of ants will pound, made the cost of powder into capsules can also be accepted.) Of course, taking these drugs without short-term effects, long-term use extension development, and now there is no cure, medicine can only be the case.
Points 1. Vitamin E protects cell membranes
Points 2. atp muscle energy agent, atp is to eat before exercise, no exercise is no need to use.
Points 3. Inosine, BT, coenzyme is neurotrophic drugs.
Points 4. Reducing enzyme, and serum enzymes associated with the double lipid another job, another job with glycyrrhizin general, together the two-fat, eat once a day is generally 10 days 20 days start the day with a stop pellets, March 1 cycle arrest in January, in a cycle. Would have been able to walk down to eat or go. To control the dose, reflecting a drug to stop. We can not go, do not take medicine but also their decline.
Points 5. Donkey-hide gelatin is to protect cell membranes and the blood, testing, using not point to see to digest no, no bloating prevail. Ejiao get small pieces of open, put honey, rice wine a little, put a bowl and steam bad, cool, into a cold, taking the water of the open like jelly, is the blood. If the stomach to digest well, taking the open water of the open can, as it has been cooked out, and if the stomach to digest poor, to be heated after the taking.
Points 6. Hope that the ants to become muscular dystrophy patients with long-term use and side effects of nutritional supplements, for the slow development of the disease play a role, the market is about 50 students will pound ant, made of powder into capsules can also accept the cost of , the stomach is not good with children, can not be used. Taken with honey ants milling.
Points 7. To protect the heart, strong heart through the blood of the fungus Ganoderma lucidum and nutrition of mushrooms.
Points 8. Tong Ren Tang Wan is a vigorous tiger potential strengthening sinews and bones, and Paul and the pill is the spleen appetizer. If it is hot flashes and night sweats, sleep is sweating, is a yin deficiency, use six Huang Wan. If it is cold hands and feet is the Yang Qi, use Bu Zhong Yi Qi Wan.
Points 1. To control fat, because fat deposition in the calf, calf hard, is fat deposition. Therefore, control of fat.
Points 2. Benefit should be in late fall and the season winter, spring and summer is not tonic, and easy to get angry. If the patients had dry mouth, dry the body such as the problem of description mend, and should stop tonic, and other symptoms after discharge to the tonic. In fact, there are many ways benefit, do not need high economic conditions. If the home environment conditions permitting, at the proper season in the traditional Chinese medicine under the guidance of carefully taking ginseng, deer antler, donkey-hide gelatin and other tonic medicines, you can also use some herbs and tonic methods. For example, animal bone, what cattle, sheep, pigs can be, how much blood the role of no less than velvet, Dongzhimen Hospital of Beijing Chinese Medicine Research Institute of Pediatrics for muscular dystrophy is the use of bovine bone marrow specialist medicine, can be sold set to discuss some of the bone marrow of meat, steamed or boiled to buy back can take. What other peanut (on behalf of the little peanut red), black-bone chicken, jujube, animal liver, blood products, dairy products, pork skin soup, vegetables have a very good blood effect. Qi Astragalus can chicken (or meat) soup almost as much as how much ginseng. (Most supplements contain a lot of fat, muscular dystrophy, especially pseudo-hypertrophic, in the deposition of fat in muscle tissue, resulting in the appearance of calf muscle performance and other pseudo-hypertrophy, so be sure to control the fat intake, to prevent increase the pseudo-hypertrophy, of course, if that is not fat intake, long-term symptoms of anemia can also occur, so that there is a question of degree, not too much intake of fat, can not specifically control fat intake. best not to patients body fat, overweight would increase if the patient walking difficult.) The Food and Drug absorb more easily and more stickers to make daily life. The role of supplements is to improve the patient's physical fitness and nutrition, so as to improve resistance to diseases, fight against the disease development, the role of delayed development of the disease, supplements can not change the gene structure, can not expect there will be any short-term tonic to take effect. Long-term use needs to see its role in delaying progression of the disease.
Points 3. Physical exercise
It should be emphasized must adhere to exercise, do not give up, this is the best way to slow, certainly not excessive, not too much intensity, two-thirds of a healthy person can, as long as you adhere to the day of travel, illness to delay the development of the day . Such as tai chi can learn not only fitness, but also mold character, action specification is not important, to achieve a volume is not great, but the body always in motion, to achieve the purpose of training. Exercise is the best way to slow, certainly not excessive, not too much intensity, two-thirds of a healthy person can, as long as you adhere to the day of travel, illness to delay the development of day. Exercise to the thigh muscle pain, the intensity of this course is too large, and if exercise is normal to feel tired the next day, intensity of pain that is too large and should be avoided, the intensity should be reduced, in that physical exercise should be carried out step by step, there small amount of gradual strengthening, not be rushed, should be gradually carried out. And sports to be appropriate, such as walking, jogging, squat, climb stairs, etc., according to their own situation to determine, there is no specific requirements. Walking can be like, as many of the small and gradually increase the amount of, say squat, one for 10 a day for 10 times, I'm just an analogy, the specific circumstances of your situation can be carried out, but also can go to medical professionals to help determine. To prevent varus foot, because the inversion will lead to joint deformity, parental supervision, not to his toes inside, look inside just shout. Otherwise, even if the gene therapy breakthrough in the future, there is no way deformed joint bones. Injury prevention, sports protective gear to bring, once injured, can not exercise good condition that would worsen the injury.
Massage is also necessary to help the muscle passive activity, but also to stretch the Achilles tendon, again and again pulling hard to prevent the tendon atrophy, walking backwards. Try not to let their children walk to walk toe to heel to the floor as much as possible, fell to his feet as far as possible, to train his squat squat energy.
In fact, many ways to exercise, as long as muscle activity on the line, there is no specific requirements. Unable to move the patient, the basic movement can be physical, such as carrying arms, lift, drop, leg lift, lift, put down, Larsson tight belt, hold items, as well as deep breathing, the more the better, the longer , and can exercise the respiratory muscles to prevent future shortness of breath and other respiratory symptoms of myasthenia gravis. Muscle contraction can also be hard, then release, and then shrink, and so forth, can achieve the effect of exercise, anyway, everyone's situation is different, there is no established formula, can be flexibility, but we must do what, if the exercise section two days is normal to feel tired, feel pain and that strength is too large and should be avoided, the intensity should be reduced, in that physical exercise should be carried out step by step, a small amount of gradually strengthened, not too fast, should be gradually carried out.
Muscular dystrophy patients and calcium
Progressive muscular dystrophy patients if large numbers of calcium can cause muscular dystrophy patients height and weight gain, so that the patient's weight increased, muscle weakness is more difficult to support the body to walk, so there are medical professionals that calcium should be used antagonist to the patient as little as possible to add calcium to the increase in height and weight pressure on
About genetic testing for two, one is diagnosed, it is not necessary if you have been diagnosed that the crime, and one is a second child, to prevent a problem before making a second child.