Neurogenetic Disorders: Understanding Inherited Brain and Nervous System Diseases

2023-10-21 07:36:06

Diseases of the brain and nervous system genetically inherited

Assoc. Prof. Dr. Obchul Trachu, Doctor of Internal Medicine Samitivej Hospital Publish information Concerning brain and nervous system diseases that are inherited as follows: People with abnormal genes There is an increased risk in people with normal genes. Even the slightest exposure to these factors can trigger abnormal symptoms. Or symptoms may occur without additional triggers.

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If there is an abnormal gene present, we will experience the onset of diseases faster, such as Alzheimer’s, at a younger age. or found a genetic disease which, once it occurs, cannot be completely cured

For those who do not have the abnormal gene You can protect yourself from diseases of the brain and nervous system by maintaining good health. Exercise regularly Avoid lifestyles that cause risks such as Drinking alcohol, smoking, etc.

AD brain and nervous system disease – continue reading the article below.

There are many brain diseases that are caused by genetics. From diseases that are very rare to diseases that are very common. Divided into symptoms as follows:

Autism syndrome (Autism Spectrum Disorder – ASD) growth disorder (Developmental delay)intellectual and perceptual disorders (Intellectual and cognitive disability) Seizures and epilepsy caused by genetics (Epilepsy and seizures) Metabolic disorders (Metabolic disorders) Group of diseases Neurocutaneous disorders such as Thao Saen Pom disease, muscle weakness syndrome from the nervous system (Neuromuscular) disorders)syndrome of degeneration of the nervous system and brain (Neurodegenerative conditions) such as Parkinson’s, Alzheimer’s, etc.

Brain diseases caused by gene abnormalities that are common, such as

Alzheimer’s disease is associated with abnormalities in the APP, PSEN1, PSEN2 genes for Alzheimer’s in people younger than 65 years, and the APOE e4, PICALM, ABCA7, CLU genes. , CR1, PLD3, TREM2, SORL1 Parkinson’s disease (Parkinson’s disease) is associated with abnormalities of the genes LRRK2, PARK2, PARK7 Huntington’s disease (Huntington’s disease) is related to a genetic abnormality. HTT, posterior cerebral degeneration Spinocerebellar ataxia is associated with a type of mutation. Trinucleotide repeat expansion hearing disability or vision

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Who is at risk? to be a genetically inherited disease of the brain and nervous system

People with symptoms of diseases that are often found in the elderly at a young age, such as Alzheimer’s. People with symptoms of diseases that are not similar to symptoms that are usually found, such as seizures that have no known cause. or does not respond to anticonvulsant drugs in children with slow development or growth or have abnormal growth of the head, people with abnormal body movements, people with vision or hearing problems related to the nervous system, people with a history of disease in the family, including father, mother, siblings, or children.

Why is it necessary to test genes for brain diseases that are caused by inheritance?

For diagnosis in people who already have symptoms of the disease, to know the chance of developing the disease in the future, for planning children for married couples, to help select healthy embryos when using reproductive technology to evaluate the fetus. For pregnant mothers, examination of newborns is needed to study appropriate treatment strategies for those with the disease.

Diseases of the brain and nervous system

Comparison between People with normal and abnormal genes for brain and nervous system diseases

Factors that cause brain and nervous system diseases

People with normal genes

aging

certain types of infections

Life style

food eaten

alcoholic beverages

smoking

Other co-morbidities

People with abnormal genes

There is an increased risk in people who do not have the abnormal gene. Even the slightest exposure to these factors can trigger abnormal symptoms. Or symptoms may occur without additional triggers.

From what age do diseases such as Alzheimer’s usually occur?

People with normal genes: found as people get older, such as Alzheimer’s and memory loss.

People with abnormal genes: Found in young people, such as Alzheimer’s or genetic diseases. which, once it occurs, cannot be completely cured

severity of disease

People with normal genes: often have severe symptoms or cannot be treated with normal treatment.

People with abnormal genes: The severity of the disease does not depend on the triggering factor. Sometimes little or no triggers can cause severe symptoms even at a young age.

Screening for Alzheimer’s disease or other brain and nervous system diseases Frequency of examination and age range

People with normal genes: Most often get tested when they have symptoms. Or get screened when you’re old.

People with abnormal genes: Testing at a younger age is recommended for those at risk for abnormal genes. and may require more frequent screening than individuals with normal genes.

treatment

People with normal genes: depends on the disease and severity

People with abnormal genes: depends on the disease and severity

Protection

People with normal genes: Protect yourself in general, maintain your health, and exercise regularly. Avoid lifestyles that cause risks, such as drinking alcohol, smoking, etc.

People with abnormal genes: In addition to general self-protection Your doctor may recommend medications or alternative treatments, such as genetic therapy, when more information is available.

Diseases of the brain and nervous system

Differences from each type of gene testing

There are two types of genetic testing that are commonly performed: medical grade and direct-to-consumer grade. The two methods are different as follows.

Medical grade genetic testing is a test that is ordered by a medical professional in a hospital. There will be a standardized and reliable examination method. It studies all genes and gives a clear answer whether the test recipient has or does not have the disease or risk that needs to be tested. The results are then translated and comprehensively explained by medical experts.

genetic testing Direct-to-consumer grade is testing with test kits that individuals can order and test themselves from home. There may not be standards for sample collection and testing. It studies genes in high-risk areas and can usually only answer whether there is a risk of having that condition or not. The interpretation and explanation of the results may not be done by a doctor or expert and may not cover all tests.

If a risk of disease caused by genes is detected What must I do?

Gene testing in general people If it is found that there is a risk of a disease or condition, it may be recommended to adjust other factors that may increase the risk even more. And the medical specialist who performs the examination and interprets the results may recommend further testing to determine whether there are at-risk conditions or diseases. They may also recommend medicines or dietary supplements that can help reduce the chance of developing the disease. Currently, genetic therapy is being researched to treat people at risk for certain diseases, such as Alzheimer’s that occurs in young people

Gene testing in married couples Couples will undergo genetic testing before conceiving and select embryos with the correct genes. No abnormalities noted and use of assisted reproductive technology The healthy, intact embryo is returned to the uterus for further development.

Genetic testing for abnormalities is currently not difficult and can be very useful. Those interested can consult a medical expert for examination.

Thank you for the information: Samitivej Hospital website

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