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Every person is born with a unique pairing of genes which they receive from their parents. These genes dictate how a person’s body develops and grows. Some genes help the body grow well while others may hamper it.
Genetic disorders are diseases caused by a change in the genetic makeup of a person. This change can be caused by a mutation in a single gene, or by changes in multiple genes or chromosomes.
Genetic disorders can be inherited from parents, or they can occur spontaneously. Some genetic conditions are present at birth, while others may develop later in life.
Types of Genetic Disorders
There are many different types of genetic disorders. Some of the most common genetic disorders types include:
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Single gene disorders
These disorders are caused by a mutation in a single gene. Examples of single-gene disorders include cystic fibrosis, sickle cell disease, and Tay-Sachs disease.
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Chromosomal disorders
These disorders are caused by a change in the structure or number of chromosomes. Examples of chromosomal disorders include Down syndrome, Trisomy 18, and Turner syndrome.
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Multifactorial disorders
These disorders are caused by a combination of genetic and environmental factors. Examples of multifactorial disorders include diabetes, heart disease, and cancer.
Symptoms of Genetic Disorders
The genetic disorders symptoms can vary widely depending on the type of disorder. Some genetic disorders may cause mild symptoms, while others may cause severe symptoms or even death.
Some common symptoms of genetic disorders include:
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Developmental delays
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Intellectual disabilities
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Physical disabilities
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Chronic health conditions
Causes of Genetic Disorders
Genetic disorders can be caused by a variety of factors. Some of the major genetic disorders causes include:
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Mutations in genes
Mutations can occur spontaneously, or they can be inherited from parents.
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Changes in chromosomes
Changes in chromosomes can occur spontaneously, or they can be caused by environmental factors, such as exposure to radiation or chemicals.
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Inheritance
Some genetic disorders are inherited from parents. This means that the child has a mutation in a gene that is also present in one or both parents.
Diagnosis of Genetic Disorders
Genetic disorders can be diagnosed using a variety of tests, including:
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Blood tests
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Urine tests
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Genetic tests
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Imaging tests
Treatment of Genetic Disorders
There is no cure for most genetic disorders. However, there are treatments that can help manage the symptoms and improve the quality of life for people with genetic disorders.
Some common treatments for genetic conditions include:
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Medications
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Surgery
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Therapy
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Dietary changes
Living with a Genetic Disorder
Life for people with genetic disorders can be very challenging. The same goes for their family members. Living with a genetic disorder can be challenging, but it is not the end of the world. It is still possible to live a full and productive life. With timely diagnosis and medical intervention, one can minimize the suffering and improve the chances of survival. There are many resources available to help people with genetic disorders and their families.
If you or someone you know has a genetic disorder, it is important to talk to your doctor about the best way to manage the condition. Learning about the condition is the first step towards tackling the condition. Manipal Hospitals, Patiala is the best hospital for genetic screening and treatment of disorders. Book a consultation today or visit our expert doctors to learn more about your health and timely care for your loved ones.
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