新年快乐！<div>好久没有上来了。<div>一方面因为自己的课题不再是重症肌无力，另一方面很懒。</div><div>在此对大家表示深深的歉意。</div><div>在这里很开心的遇到了很多信任我支持我的朋友。</div><div>也对那些对我表示怀疑的朋友致敬。</div><div>正是这些支持我或反对我的朋友让我明白自己的知识和能力很有限，自己还要加强学习。</div><div>
</div><div>言归正传。</div><div>先声明以下是根据现有的研究数据得到的结论，在这个领域仍然有很多未知的东西。</div><div>
</div><div><div>重症肌无力这种病遗传的几率非常小。</div><div>即使遗传，绝大部分病例也是出生即患有重症肌无力。</div><div>以下是来自波士顿儿童医院关于重症肌无力的介绍，他们重点说明了儿童重症肌无力患者。</div><div>关于是否遗传这一段，我把它重点突出了。</div><div>那一段大体意思就是先天性重症肌无力是一种常染色体隐性遗传，发生几率非常小，病人出生时即患病且持续终生。</div><div>希望能给大家一定的参考。</div><div>祝大家都幸福安康！</div><div>祝患者早日战胜病魔！</div><div>
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What is myasthenia gravis?

Myasthenia gravis (MG) is a complex, autoimmune disorder in which antibodies destroy neuromuscular connections. This causes problems with the nerves that communicate with muscles. MG affects the voluntary muscles of the body, especially the eyes, mouth, throat, and limbs.

What causes myasthenia gravis?

Myasthenia gravis may be inherited as a rare, genetic disease, it may be acquired by babies born to mothers with MG, or the disorder may develop spontaneously later in childhood.

What are the types of myasthenia gravis?

There are three types of MG in children, including the following:

congenital MG - this is a very rare non-immune form of MG that is inherited as an autosomal recessive disease. This means that both males and females are equally affected and that two copies of the gene, one inherited from each parent, are necessary to have the condition. Symptoms of congenital MG usually begin in the baby's first year and are life-long.the baby's first year and are life-long. transient neonatal MG - between 10 and 25 percent of babies born to mothers with MG may have a temporary form of MG. This occurs when antibodies common in MG cross the placenta to the developing fetus. Neonatal MG usually lasts only a few weeks, and babies are not at greater risk for developing MG later in life. juvenile MG - this auto-immune disorder develops typically in female adolescents - especially Caucasian females. It is a life-long condition that may go in and out of remission. About 20 percent of MG cases are juvenile-onset.

What are the symptoms of myasthenia gravis?

The following are the most common symptoms of myasthenia gravis. However, each child may experience symptoms differently. Symptoms may include:

Babies with neonatal MG may be weak, with a poor suck, and may have respiratory difficulty. A few babies may need the help of a mechanical breathing machine if their respiratory muscles are too weak to breathe on their own. Symptoms go away as the maternal antibodies disappear over time. Congenital MG symptoms may begin in the first year, with generalized weakness in the arms and legs, and delays in motor skills such as crawling, sitting, and walking. Babies may have difficulty feeding and may have weak eyelids and poorwalking. Babies may have difficulty feeding and may have weak eyelids and poor head control. Juvenile MG symptoms may begin gradually over weeks or months. The child may become excessively tired after very little activity, and begin to have problems chewing and swallowing. Drooping eyelids may be so severe that the child cannot see.

The symptoms of myasthenia gravis may resemble other conditions. Always consult your child's physician for a diagnosis.

How is myasthenia gravis diagnosed?

The diagnosis of myasthenia gravis is made after the sudden or gradual onset of specific symptoms and after diagnostic testing. During the physical examination, the physician obtains a complete medical history of the child, and may also ask if there is a family history of any medical problems. Diagnosis of MG is usually confirmed with a Tensilon test. With this test, a small amount of medicine (Tensilon) is injected into the child. If the child has MG, an immediate, but brief, increase in muscle tone is noted. Other diagnostic tests that may be performed to help confirm the diagnosis of myasthenia gravis include:

blood tests genetic tests - diagnostic tests that evaluate for conditions that have a tendency to run in families. electromyogram (EMG) - a test that measures the electrical activity of a muscle or a group of muscles. An EMG can detect abnormal electrical muscle activity due to diseases and neuromuscular conditions. muscle biopsy - a small sample of the muscle is removed and examined to muscle biopsy - a small sample of the muscle is removed and examined to determine and confirm a diagnosis or condition.

Treatment of myasthenia gravis:

Specific treatment for myasthenia gravis will be determined by your child's physician based on:

your child's age, overall health, and medical history the extent of the condition your child's tolerance for specific medications, procedures, or therapies expectations for the course of the condition your opinion or preference

There is no cure for MG, but the symptoms can sometimes be controlled. Myasthenia gravis is a life-long medical condition and the key to medically managing MG is early detection. The goal of treatment is to prevent respiratory problems and provide adequate nutritional care to the child since the swallowing and breathing muscles are affected by this condition. Treatment may include:

medications thymectomy - surgical removal of the thymus gland. The role of the thymus gland in MG is not fully understood, and the thymectomy may or may not improve a child's symptoms. plasmapheresis - a procedure that removes abnormal antibodies from the blood and replaces the child's blood with normal antibodies through donated blood.

The extent of the problems is dependent on the severity of the condition and the presence of other problems that could affect the child. In severe cases, a breathing machine may be required to help the child breathe easier. The healthcare team educates the family after hospitalization on how to best care for their child at home and outlines specific clinical problems that require immediate medical attention by their physician. A child with MG requires frequent medical evaluations throughout his/her life. It is important to allow the child as much independent function and self care, especially with juvenile MG, as possible and to promote age-appropriate activities to ensure a sense of normalcy.

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由于科研课题转变可能对这个疾病的关注越来越少，但是如果我得知新的遗传方面的消息，会尽可能向大家汇报的。<div>向那些给我发邮件而我没有及时回复的朋友表示歉意。</div><div>再次谢谢大家。</div><div>祝福每个人都健康幸福！</div>

以下是一篇和重症肌无力相关的基因的文章，由于发表文章的单位之一是上海中医药大学，所以这里特别介绍了一下。给大家一定的参考。<div>但是这也只是一种研究的结果，并不代表这个研究结果一定是正确的，更不能说所有患者都和这个基因相关。</div><div>而且事实上，在其他的国家的相关文献中也报道了其他的相关基因，无法说哪个基因就一定相关，只是说这是研究的一个小的进步，是不是真理，还有待更多科研工作者的验证。</div><div><div class="articleTitle" style="font-size: 18px; font-family: Arial, Helvetica, sans-serif; font-weight: bold; display: inline; ">Identification of CTLA-4 isoforms produced by alternative splicing and their association with myasthenia gravis</div>

Ming Gu^a, Maria Kakoulidou^a, Ricardo Giscombe^a, Ritva Pirskanen^b, Ann Kari Lefvert^a, Lars Klareskog^a and XiongBiao Wang^a, c, , 

^aRheumatological Research Unit, Department of Medicine, CMM, Karolinska Institutet, Stockholm, Sweden

^bDepartment of Neurology, Karolinska Institutet, Stockholm, Sweden

^cDepartment of pulmonary medicine, PuTuo Hospital, Shanghai University of TCM, China

Abstract

Myasthenia gravis (MG) is an autoimmune disease characterized by muscle weakness induced by autoantibodies against the acetylcholine receptor. CTLA-4 (CD152) plays an inhibitory role in the immune response and has been suggested to be involved in the pathophysiology of MG. In this study, we focused on alternative CTLA-4 mRNA expression in PBMCs from MG patients. We defined two new isoforms of CTLA-4 mRNA that arise due to alternative splicing. By semi-quantitative RT-PCR analysis, we observed a lower expression of sCTLA-4 mRNA relative to the membrane form in MG patients. In addition, the MG patients had lower levels of sCTLA-4 mRNA in PBMCs compared to healthy controls, as assessed by real-time PCR. One of the spliced isoforms (LCTLA-4) was more prevalent in MG patients compared to healthy controls. The alternative splicing was not associated with sex, thymectomy, serum levels of anti-AChR, immunosuppressive treatment or the four CTLA-4 gene polymorphisms analyzed. This study reveals an abnormal spectrum of mRNA expression of CTLA-4 in MG patients, which marks the importance of studying gene expression of alternative splicing.

Keywords: Myasthenia gravis; Gene splicing; CTLA-4; Gene expression

谢谢

shizi0616。虽然我看不懂英文，但我还是非常感谢你。希望有相关的资料多提供给我们。    年轻的病友们，不管是常染色体隐性遗传病，还是之前我看到的多基因遗传病，（我个人更相信是多基因遗传病，因为多基因遗传病的表现与环境、心情等方面有关，从看到的病例中也符合）都说明MG的遗传几率小。只要你找对象不要找有MG的，或类似MG的人，子女就不会得MG.  树立信心，MG经过长期的治疗，病情会稳定的。只要不是太劳累的工作，我们都能胜任，并且也干的出色。    在学习阶段的小字辈们，千万不要轻易放弃学业。学习、工作有年龄限制的。在当今就业形势如此严峻的情况下，普通老百姓的子女，只有念好书，才能找到适合MG人的工作。（旱涝保收的单位最好了）。

［此帖子已被 大洋彼岸 在 2010-1-2 23:53:59 编辑过］

我儿子现在才二岁多，一直担心这病对他以后的人生会不会有很大影响，愁啊。

这病是否遗传还有没定论

但是要孩子的病友我还是奉劝

如果连自己犯病的过河钱都没有

就别要孩子了！！！！！！

没被MG弄死

被压力弄死！！！

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