Genetic disorders types, reason and symptom

During the king’s ruling period, his son will next rule the country. This will continue from one generation to the next generation. But nowadays several countries follow the democratic rules, still few gulf countries are ruled by the kings. Okay, Let me come to my point, health issues or disease will follow from one generation to the next generation in a family, for example a man having diabetes disease because his father, grandfather and great grandfather have this disease. In this article we will see in depth about genetic disorders types, reasons for genetic disorders and symptoms for genetic disorders.

What are genetic disorders?

Generic disorders are caused due to abnormalities in an individual’s genetic makeup.

The genetic abnormality can range from mild to major — from a discrete mutation in a single base in the DNA of a single gene to a gross chromosomal abnormality involving the addition or subtraction of an entire chromosome or set of chromosomes.  Genes are made of DNA (deoxyribonucleic acid), which is loaded with information for cell functioning and the characteristics that make a person unique.

A person receives half genes from each biological parent and may inherit a gene mutation from one parent or both of them. Sometimes genes may change because of issues within the DNA (mutations). This can raise the risk of having a genetic disorder in a person’s life. Some cause symptoms at birth, while others develop over time.

Types of genetic disorders (inherited)?

There are four different types of genetic disorders (inherited) and They are:

• Single gene inheritance
• Multifactorial inheritance
• Chromosome abnormalities
• Mitochondrial inheritance

Single gene inheritance disorders

Single gene inheritance disorder is also known as Mendelian or monogenic inheritance, because in this type of inheritance changes or mutations occur only one gene in the DNA sequence. In the medicine world there are thousands of known single-gene disorders. 

Single-gene disorders also have some different patterns of genetic inheritance, They are

• Autosomal dominant inheritance – In this disorder, in which only single copy of a defective gene (from either parent) is necessary to makes the disorder condition;
• Autosomal recessive inheritance – In this disorder, in which two copies of a defective gene (one from each parent) are necessary to make the disorder condition.
• X-linked inheritance- In this disorder, in which the defective gene is loaded on the female, or X-chromosome. This inheritance may be dominant or recessive.

Examples For Single-Gene Disorders such as

• Cystic Fibrosis,
• Alpha- And Beta-Thalassemias,
• Sickle Cell Anemia (Sickle Cell Disease),
• Marfan Syndrome,
• Fragile X Syndrome,
• Huntington’s Disease, 
• Hemochromatosis.

Multifactorial genetic inheritance disorders

Multifactorial inheritance is also known as complex or polygenic inheritance. Multifactorial inheritance disorders are caused due to the combination of environmental factors and mutations in multiple genes.

Examples of multifactorial inheritance disorder such as 

• Heart Disease
• High Blood Pressure
• Alzheimer’s Disease
• Arthritis
• Diabetes
• Cancer
• Obesity

Multifactorial inheritance is also linked with heritable traits such as fingerprint patterns, height, eye color, and skin color.

Chromosomal abnormalities

In this chromosomal abnormalities disorder, it will affect the structures that hold your genes/DNA within each cell (chromosomes). With these conditions, people are losing or have duplicated chromosome material.

There are some other chromosomal abnormalities including:

• Turner syndrome (45, X0),
• Klinefelter syndrome (47, XXY), and
• Cri du chat syndrome, or the “cry of the cat” syndrome (46, XX or XY, 5p-).

A person may also face disorders because of chromosomal translocation in which portions of two chromosomes are exchanged.

Mitochondrial genetic inheritance disorders

This type of genetic disorders in a person’s life due to the mutations in the non-nuclear DNA of mitochondria. Mitochondria are tiny round or rod-like organelles that are involved in cellular respiration and present in the cytoplasm of plant and animal cells. Mitochondrial DNA is always inherited from the female parent, and the examples of mitochondrial disease such as

• Leber’s hereditary optic atrophy (LHON), an eye disease
• Myoclonic epilepsy with ragged red fibers (MERRF)
• Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), a rare form of dementia.

Reason for Genetic Disorder

People should know the reasons for the genetic disorder. One of the main reasons for genetic disorder is family history and some other reasons for the genetic mutation are environmental factors. In this environmental factors including 

• Chemical exposure.
• Radiation exposure.
• Smoking.
• UV exposure from the sun.

Symptoms of genetic disorders

Medical experts and several health care experts are not revealing the exact symptoms of genetic disorders, but they are mentioning some symptoms for the genetic disorder. 

• Behavioral changes or disturbances.
• Breathing Issues.
• Cognitive deficits, when the brain can’t manage or process the information as it should.
• Developmental delays that include challenges with speaking skill or social skills.
• Eating and digestive issues, such as very hard to swallow food or an inability to process nutrients.
• Limb or facial anomalies, which include missing fingers or extra fingers, a cleft lip and palate.
• Movement disorders because of muscle stiffness or weakness.
• Neurological issues such as seizures or stroke.
• Poor growth or short stature.
• Vision loss problem. 
• Hearing loss problem.

Symptoms vary depending on each type of disorder, organs affected and how severe it is. So, people should be ready to face or overcome this issue in an advanced mode.

How to find Genetic Disorder?

Taking a prevention step at the right time surely helps to overcome several health issues including genetic disorder. If there’s a family history, taking DNA testing for genetic disorders can be an important part of starting a family. In this DNA test having some types, they are 

• Carrier testing
• Prenatal screening
• Prenatal diagnostic testing
• Newborn screening

People should not panic about the genetic disorder, at the same time, taking proper precaution steps at the right time will help to overcome this issue in an effective way. Getting counseling from the health care experts will help to keep the body healthy and protect the body from various disorders including this genetic disorder.