Clinical diagnosis basis of DMD
(1). Generally onset before 5 years old; (2) The clinical feature is progressive symmetrical myasthenia, with proximal limb involvement more common, and the onset often begins in lower limbs; (3) Physical examination showed no muscle tremor and sensory disturbance, and most of them were accompanied by gastrocnemius pseudohypertrophy; (4) Serum creatine kinase (CK) is increased by dozens or hundreds of times; (5) EMG showed myogenic damage; (6) Muscle biopsy showed that muscle fibers were different in length, necrotic and degraded, transparent, and compensatory hyperplasia of connective tissue and adipose tissue. Immunohistochemical analysis found dystrophin deletion. (7). Family history, X-linked recessive inheritance; (8). The condition is getting worse and worse.
treat cordially
At present, there is no specific treatment for this disease at home and abroad. There have been attempts to treat DMD by stem cell transplantation in the world, and some progress has been made in mice. However, satisfactory results have not been obtained in patients. At present, how to transform DMD type into BMD type, prolong the survival time of patients or play a therapeutic role in meaningless mutation of DMD/BMD has become a hot topic in international research. The so-called "stem cell transplantation" and "bone marrow cell transplantation" are immature methods. It is dangerous and economical to find suitable donors and give children a lot of immunosuppressants. I hope people have a full understanding of these immature technologies. Medical staff who have already carried out this work have the obligation to truthfully disclose relevant information to the society, and may not conceal any inside information, so as to avoid more patients suffering. If the curative effect is found to be good, it is also true that more patients will benefit from public information (you can protect your medical technology patent and get the economic effect you deserve, but only if you are sincere. Doctors are not profiteers. )。 This is the medical ethics of real doctors and medical scientists. The problem worthy of attention is that at present, bench research to bedside research (B to B) is popular abroad. In other words, we should not only pay attention to basic research, but also pay attention to clinical research. I also advocate the so-called B to B study, hoping that many intractable diseases will make new breakthroughs in clinical treatment. However, what attracts people's attention is that some "scholars" and "researchers" who used to blindly worship foreign things began to "introduce so-called foreign advanced technology" and blindly conducted immature B to B research. Therefore, it is possible that many patients (children) will take the place of mice and go to the experimental platform as experimental subjects. It must be remembered that the premise of B to B research is that there is enough Bench research evidence. We should fully consider the safety of ethics and treatment. It is absolutely forbidden for anyone and any organization to treat DMD/BMD patients as "dead horses as living horse doctors", which brings unnecessary pain to patients and huge economic losses to their families.