Is tuberous sclerosis complex always inherited?

The disease is predominantly inherited in an autosomal dominant manner, but sporadic cases can also be seen.

The main molecular mechanism is the inactivation of specific gene mutations in patients, resulting in the overactivation of specific signaling kinases, thereby promoting cell metabolism and causing abnormal cell proliferation. The main molecular mechanism of the disease is an inactivating mutation in the tumor suppressor gene TSC2, and a small number of patients have an inactivating mutation in TSC1. The causative genes are mapped to chromosome 9q34 (gene TSC1, encoding the hamartin protein) and gene TSC2, encoding the Tuberin protein, respectively.

Mutations in the TSC1 or TSC2 genes are present in 75% to 85% of patients with tuberous sclerosis, and approximately 15% are absent. In the physiological state, the expression products of TSC1 and TSC2 tumor suppressor genes can inhibit a kinase of signal transduction in the body - MTOR, when the above-mentioned TSC1 and TSC2 genes lose their activity, the inhibitory effect is weakened or eliminated, and MTOR is overactivated, resulting in accelerated cell metabolism and abnormal cell growth.

The disease is often manifested as multi-system involvement, and its occurrence and development have certain stages, and its core organs involved include the nervous system and **, kidneys, and lungs.

Cardiac rhabdomyomas often occur in the fetal neonatal period, most of which resolve spontaneously, and significant mental decline and seizures often occur within 2 to 3 years of age.

Different** lesions can occur at different ages, with facial lesions usually appearing between the ages of 4 and 10 years and gradually worsening thereafter.

Mental retardation, seizures, and impairment may not be parallel.

**Mainly includes specificity** and synthesis**, specificity** is essential to control the progression of TSCs, mainly refers to specific targeted** drugs MTOR inhibitors.

Comprehensive ** refers to the need for a comprehensive assessment for patients with a clear diagnosis, to understand the involvement and severity of various organs, to monitor the development of the disease, and to select appropriate ** measures according to the development of the disease.

Tuberous sclerosis complex is an autosomal dominant neurological syndrome, which is a genetic disorder. According to the different parts of involvement, there are different clinical manifestations, and the typical manifestations are mainly sebaceous adenoma of the face, seizures, mental retardation, etc., which generally occur in childhood, and there are more male children than women.

Specific manifestations include the following:

Clause. 1. Damages. It is mainly a sebaceous adenoma in the triangular area of the mouth and nose, symmetrically butterfly-shaped, pale red or reddish-brown, and is a hard waxy papule the size of a needle to the size of a broad bean, which fades slightly.

Clause. Second, it also includes fibroids under the nail bed, as well as some hypopigmented spots on the body. Neurologic damage includes seizures, mental retardation, and is usually progressively worsening, as well as ocular symptoms.

Half of the patients will have retinal glioma, and it may also be accompanied by kidney disease, heart disease, lung disease, bone disease, etc.

Detail change disease is an autosomal dominant genetic disease, so it is a genetic disease, usually mainly manifested as ** damage, often showing some red or reddish-brown appearance, nervous system damage, people with this disease it will have some epilepsy, and there will also be some eye symptoms, may be cataract, glaucoma and so on.

Tuberous sclerosis complex has a certain hereditary nature, it is mainly due to autosomal dominant inheritance of the disease, which will lead to damage to the organs, face, and nervous system. Therefore, in the case of tuberous sclerosis, it is necessary to take corresponding examinations to determine the extent of their condition, that is, they can further effectively control the condition through surgery, drugs and other methods, and achieve curative effects, so as to avoid a series of complications or damage caused by continuous damage to the body.

After learning that tuberous sclerosis complex has a genetic nature, patients also need to take care of their bodies in the process of receiving **, and also decide whether they can conceive according to the differences in individual circumstances. In general, if the heritability is very high, and it is determined that there is a dominant abnormality in the autosome, it is necessary to pass a comprehensive physical examination, and according to the results of the examination, the doctor will evaluate whether the pregnancy can be carried out normally. After determining one's own situation, you can take relevant measures based on the actual situation to avoid the occurrence of problems such as unwanted pregnancy, which will cause greater damage to the body.

From the above, tuberous sclerosis complex is hereditary, and it is mainly a genetic phenomenon caused by autosomal dominant abnormalities. Often, when there are different individual situations, there are differences in the location and degree of involvement, which will cause different degrees of damage to the body. Therefore, in the case of tuberous sclerosis, it is necessary to properly regulate the condition and regulate the body through surgery, drugs and other methods in time.

Tuberous sclerosis complex is an autosomal dominant disease that is genetically predisposed, and it is possible for the disease to be passed on to future generations. It mainly affects the patient's **caused** damage, and also affects the patient's cognitive function and causes the patient's mental decline. In addition, it also affects the cerebral cortex, which may cause the patient to have seizures.

Because this is a genetic disease, there is currently a lack of very effective means, and it is not possible. It is mainly to give some symptomatic **, for example, if epilepsy occurs, it is necessary to give corresponding anti-epileptic drugs**. In addition, it is necessary to carry out some multi-faceted training and psychological counseling to prevent patients from having some psychological emergency disorders.

Tuberous sclerosis complex is an autosomal dominant disease that is genetically predisposed, and it is possible for the disease to be passed on to future generations.

It mainly affects the patient's ** injury, but also affects the patient's cognitive function and causes the patient's mental decline, in addition to affecting the cerebral cortex, which may cause the patient to have epileptic seizures. Because this is a genetic disease, there is currently a lack of very effective means, and it is not possible.

Tuberous sclerosis.

It is usually inherited, generally autosomal dominant, and patients usually develop cardiac rhabdomyomas in the neonatal period, which may resolve on their own, and at about two to three years old, mental retardation or epilepsy may occur.

seizures, and there is also the possibility of **damage. It usually needs to be carried out with oral anti-epileptic drugs by the doctor**, which can control the seizures of epilepsy, and can also be surgical**, and if the epilepsy is not well controlled, the ketogenic diet can also be chosen**.

Tuberous sclerosis complex is generally inherited.

The disease is an autosomal dominant disease, mainly caused by point mutations, some patients are familial cases, some patients are sporadic cases, that is, some patients are inherited from one parent. Some patients are born with a new mutated gene and do not have a family member.

Tuberous sclerosis, as a neurological syndrome, usually affects multiple organs and systems of the patient, such as the kidneys, nervous system, peripheral nerves, eyes and **, etc., mainly manifested as mental retardation, facial sebaceous adenoma, seizures and other symptoms. If it is not effective**, it may also cause complications such as heart failure, respiratory failure, and kidney failure.

It is more common than childhood, and the disease may have different clinical manifestations depending on the site of involvement

First, it is mainly manifested as the damage of **, with sebaceous adenoma in the triangular area of the mouth and nose, symmetrical butterfly-shaped distribution, light red or reddish-brown in color, and a hard waxy papule the size of a needle tip to broad bean, which can fade with pressure.

Second, it is the damage of the nervous system, the main clinical manifestations are epilepsy, the incidence of epilepsy is high, accounting for about 70%, there is mental decline, and it is progressively aggravated, in addition, about half of the patients can have ocular lens tumors.

At present, there is no effective means for this disease, but through strict monitoring and formalization, it can not affect the life expectancy.

First of all, tuberous sclerosis is an autosomal dominant inherited disease, which is a neurological syndrome, and tuberous sclerosis can also cause other complications, such as abnormal development of ectodermal tissues and organs, which will lead to uncomfortable symptoms in the patient's brain, peripheral nerves, kidney organs, etc. It is not known how severe the disease is, but it is known that there is a genetic component to the pathogenesis of the disease.

Secondly, if only one of the parents has tuberous sclerosis, there is a 50% chance of inheritance, and if both parents have tuberous sclerosis, the probability of the next generation having tuberous sclerosis is 100%. Tuberous sclerosis is not necessarily caused by multiple factors, and heritability is only one of its pathogenesis.

In addition, there is currently no effective program for tuberous sclerosis that can completely ** the disease, nor can ** its severity, but it can be closely monitored and controlled. Since tuberous sclerosis complex cannot be hereditary and has a certain hereditary nature, genetic counseling should be carried out when considering the birth of the next generation, and the condition should not be concealed, so as to prevent the birth of children with this disease, and prenatal diagnosis or induced abortion can be selected.

To sum up, tuberous sclerosis is a dominant inherited neurological syndrome, there is a certain genetic possibility, not necessarily 100% inherited to the next generation, the genetic probability is determined according to the situation of both parents, tuberous sclerosis can not be **, but can be controlled, when tuberous sclerosis wants to give birth to the next generation should be first carried out genetic counseling, do a good job of prenatal diagnosis, such as found that children who are already pregnant with tuberous sclerosis, you can choose to have an abortion to avoid the birth of the child.

Disease is an autosomal inherited disease that can affect multiple organs such as the nervous system, **, liver, and kidneys.

The main clinical manifestations are:

First, ** damage, there can be facial angiofibromas distributed on both sides of the nose, or a soft plaque higher than ** occurs at the bottom of the waist, and the area gradually increases.

Second, there is a decrease in intelligence, which can lead to a decrease in memory, orientation, calculation, comprehension, and executive ability.

Genes are there, but they don't matter much, as long as you ensure normal growth, there are generally no problems.