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Genetic disorders occur because of mutations impacting your genes or when your body has the wrong amount of genetic material. Mutations can be understood as harmful changes to your genes, which are also referred to as pathogenic variants. Carrying a mutation, however, does not necessarily mean that you will end up with the genetic disease.
In this article, we will have an in-depth discussion of what genetic disorders are, along with shedding light on their most common types.
What Are Genetic Disorders
These types of disorders are a product of genetic mutations or a consequence of having the wrong number of genetic materials. Genes consist of DNA or deoxyribonucleic acid, which includes characteristics that make you different from everyone else, as well as instructions for cell functioning.
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You receive about half your genes from each biological parent, and therefore you can inherit gene mutations from both or any one biological parent. Genes can also change due to issues within DNA which increases your risk of getting genetic disorders. Some of the symptoms of such a disease can be seen at birth while others develop over a period of time.
These disorders can be categorized into three groups:
1. Complex or Multifactorial – Complex or multifactorial disorders arise due to the combination of gene mutations along with various other factors such as increased alcohol or tobacco use, certain medications, prolonged chemical exposure, and more.
2. Chromosomal – The chromosomal genetic disorder tends to have an impact on the structure that is responsible for holding the genes or DNA within the cells of your body. Generally, in this condition, your body is either missing or duplicated in the chromosome material.
3. Single-Gene or Monogenic – The monogenic group of conditions occurs because of the single gene mutation.
Causes of Genetic Disorders
The DNA in your body tends to instruct it to make proteins which initiate the complex cell interaction to keep your body healthy. Therefore, when a mutation occurs in your body, it impacts the protein-making instructions of your genes. Various complications can arise due to this process, including missing proteins or improper functioning.
There are also certain environmental factors that cause genetic mutations, including smoking, radiation exposure, chemical exposure, and UV exposure to the sun.
Symptoms of Genetic Disorders
The symptoms of genetic disorders tend to be wide ranging and vary according to the type of disease, severity of the disease, and organs that are impacted. Some of the most common symptoms include:
- Breathing problems
- Developmental problems such as speech problems or challenges with social skills
- Behavioral disturbances
- Digestive issues and eating disorders such as inability of the body to process nutrients
- Hearing or vision loss
- Poor growth
- Movement disorders like weakness or stiffness of muscles
- Neurological issues like strokes and seizures.
- Facial or limb anomalies
Common Genetic Disorders Types
There are various common genetic disorders, to list a few:
1. Multifactorial Disorders – Arthritis, diabetes, spina bifida, coronary artery disease, cancer, autism spectrum disorder, late onset of Alzheimer's disease, and more.
2. Chromosomal Disorders – Trisomy 18, FragileX syndrome, Down syndrome, Trisomy 13, Turner syndrome, Klinefelter syndrome, Triple-X syndrome, and more.
3. Monogenic Disorders – Congenital deafness, cystic fibrosis, hemochromatosis, sickle cell disease, Tay-Sachs disease, Duchenne muscular dystrophy, and more.
4. Rare Disorders – Mitochondrial diseases, Usher syndrome, Ehlers-Danlos syndrome, AA amyloidosis.
If there is a family history of gene-related disorders, beginning with DNA testing might be a better option before starting a family. These include:
- Newborn screening – This screening is performed on babies to detect genetic disorders early so that they can receive timely care and prevent the worsening of the condition.
- Prenatal screening – Prenatal screening helps in identifying how likely it is for a fetus to be suffering from a common chromosome condition.
- Carrier testing – Carrier testing will show whether your body carries a mutation that can be linked to the genetic disorder. You can also perform this test without any family history of the disorder.
The aforementioned article discusses everything about genetic disorders ranging from symptoms and causes to screenings and common types. There are different treatments available for these diseases with the help of medical surveillance such as blood transfusions, dietary supplements, medications, radiation therapy, and more.
