Genetic Disorders

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What are Genetic Disorders?

Every DNA molecule in a living being carries genetic information essential for its growth and functioning. DNA is responsible for all physical characteristics, from a person’s skin colour to his body type. So, a small change in the DNA can significantly affect the body. 

A genetic disorder is a health condition caused by variations in the normal DNA sequence. This can occur in the form of genetic mutations (i.e. harmful changes) or the presence of an extra chromosome. The impact of these abnormalities may be visible during birth or develop later in life.

List of Genetic Disorders

Several genetic disorders affect people today. Some of the common genetic diseases are listed below.

Arthritis

Cancer

Coronary Artery Disease

Cystic Fibrosis

Diabetes

Down Syndrome

Duchenne’s Muscular Dystrophy (DMD)

FragileX Syndrome

Haemophilia

High Blood Pressure

Migraine

Obesity

Sickle Cell Anemia

Spina Bifida

Tay-Sachs Disease

Thalassemia

Turner Syndrome

Types of Genetic Disorders

Genetic disorders are generally classified under the following heads:

Monogenic Inheritance

These disorders are caused due to mutations in the DNA sequence of a single gene. There are several patterns. E.g. Cystic Fibrosis, fragile X Syndrome

Multifactorial Inheritance

These disorders are caused by both genetic mutations and environmental factors. They are also known as complex or polygenic inheritance disorders. E.g. Arthritis, Diabetes, Obesity

Chromosomal Abnormalities

As chromosomes carry genetic information, any variation in their number or structure can result in a genetic disorder. E.g. Down Syndrome, Turner Syndrome

Mitochondrial Inheritance

Mitochondrial genes are inherited by the child only from its mother. Mutations in the mitochondrial DNA can cause several disorders that may be passed by mothers to their children. E.g. Leber’s Optic Atrophy (a type of eye disease), Mitochondrial Encephalopathy

What are the Symptoms of Genetic Disorders?

The symptoms are generally dependent on the type of disorder and its severity. The following symptoms are generally observed in individuals affected by genetic diseases.

Hearing or vision impairments

Mobility issues due to muscle weakness or stiffness

Difficulty in normal breathing

Difficulty in eating, swallowing, and digesting food

Abnormal behavioural pattern

Unusual facial features and other physical characteristics

Poor physical growth

Learning disabilities and cognitive deficits

Delays in achieving normal developmental milestones

What are the Causes of Genetic Disorders?

Some of the primary causes of genetic disorders are as follows:

Genetic mutations that affect a gene’s protein-making capabilities

Variations in the number or structure of chromosomes

Translocation, or the shifting of genes from one chromosome to another

Missing parts of a chromosome

Exposure to toxins, harmful chemicals, and radiation

Lifestyle influences such as smoking

How are Genetic Disorders Diagnosed?

People with a family history of genetic diseases should go for genetic counselling without much ado. Professional genetic counsellors can assess the risk factors and suggest the best course of action for pregnant women, infants, and older children. Specific tests are advised for genetic disorders that include the following:

Prenatal Screening

This procedure involves testing the blood of a pregnant woman to check the possibility of the fetus having chromosomal abnormalities

Prenatal Diagnostic Testing

A sample of amniotic fluid from the uterus is tested to check whether the fetus has some risk of developing a genetic disorder

Carrier Testing

The procedure involves a blood test to check whether the person carries a gene associated with any genetic disease. Both partners can undertake this procedure despite not having any family history of genetic disorders.

Predictive Genetic Testing

This procedure can determine the probability of a healthy person developing diseases such as heart ailments or cancer

Newborn Screening

Blood tests can be conducted on newborn babies to detect and treat genetic disorders as early as possible

Frequently Asked Questions on Genetic Disorders

Unfortunately, most genetic disorders do not have a permanent cure. However, many of these conditions can be effectively managed with proper medicines, treatments, diet, and lifestyle changes.

Many of the genetic disorders are caused by factors beyond our control. However, genetic counselling and testing procedures can help you understand the risk factors and the probability of developing a genetic disease. This is primarily important for those with a family history of genetic disorders.

Many of the genetic disorders are passed on to children by parents with defective genes or abnormal chromosomes. However, there are quite a few disorders that develop due to changes in a person’s DNA. This can occur at any time during a person’s life.

Several scientific studies have reported that many of the psychiatric illnesses can be passed on by parents to their children. This includes disorders such as autism, schizophrenia, bipolar disorder, and depression.