What is a Genetic Disorder?

Genetic Disorder: Key Symptoms & Causes

A genetic disorder occurs when a mutation, or a change in a gene, disrupts its normal function. Genes contain the recipes for making proteins, which are crucial for body functions. If a gene is mutated, then it can result in a defective protein or none at all, which can cause health problems.

Such mutations may be inherited from a parent or arise spontaneously. Some of these conditions can be detected with genetic testing.

Read on to learn the types, diagnoses, symptoms, and causes of genetic disorders!

What are the Types of Genetic Disorders?

Genetic diseases are conditions in which a person has an abnormal genome, and they can be broadly divided into three types:

1. Single Gene Disorder

The cause behind these diseases is a mutation in a certain gene. They may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner.

In autosomal dominant conditions, a single altered gene copy can cause the disorder. For instance, familial hypercholesterolemia is caused by a mutation in one copy of the gene.

An autosomal recessive disease will be expressed only when both gene pairs are mutated, as is the case with cystic fibrosis. X-linked conditions, such as Duchenne muscular dystrophy, are due to mutations of the X chromosome and are typically present in males.

2. Chromosomal Disorders

These are the result of rearrangements or abnormalities in chromosomes like the presence of too many or too few chromosomes. Down syndrome, for instance, results from an extra copy of chromosome 21, causing developmental and intellectual disabilities.

3. Complex Disorders

These conditions are due to genetic and environmental causes. Patients with conditions such as heart disease, diabetes, and certain cancers are under this umbrella. They do not have simple inheritance and are multigenic and lifestyle-related.

What Causes Genetic Disorders?

Genetic disorders are caused by the following factors:

1. Single-Gene Mutations: Changes in a particular gene can cause conditions like cystic fibrosis or sickle cell anemia.
2. Polygenic: Multiple mutations in different genes, sometimes in combination with environmental factors, can lead to complex conditions such as heart disease or diabetes.
3. Genetic Abnormalities: Defects in the number or structure of chromosomes (like an extra chromosome 21, a recipe for Down syndrome) can prevent the body from developing properly.
4. Inherited Mutations: Errors that occur in our DNA that are inherited from our parents can cause disease if both parents contribute a faulty gene to their offspring.
5. Spontaneous Mutations: New mutations can occur during the formation of reproductive cells or early embryonic development, leading to genetic disorders without a family history.

What are the Symptoms of Genetic Disorders?

Genetic disorders can present a wide range of symptoms, depending on the specific condition and the genes affected. Some common signs include:

• Developmental delays in physical or cognitive milestones
• Distinctive facial features or physical abnormalities
• Intellectual disabilities or learning difficulties
• Behavioral issues, such as hyperactivity or social withdrawal
• Growth problems, including short stature or delayed puberty
• Organ malfunctions, like heart defects or liver problems
• Sensory impairments, such as hearing or vision loss
• Metabolic issues leading to energy production problems
• Seizures or muscle weakness
• Increased susceptibility to infections

How to Diagnose Genetic Disorders?

Genetic disorders are typically diagnosed through a combination of clinical exams and tests. Healthcare professionals first evaluate an individual’s physical characteristics and the medical histories of the family and person to look for trends that suggest that a genetic disorder might be involved. Laboratory testing to identify the exact genetic abnormalities is done later. These tests include:

• Molecular Testing: Analyzes DNA sequences to detect mutations in genes.
• Chromosomal Studies: Look at entire chromosomes for structural differences or defects.
• Biochemical Tests: Evaluate the levels of enzymes or other chemicals in the body that may signal a genetic disease.

In some instances, advanced methods such as whole-genome or whole-exome sequencing may be used to diagnose the condition, especially when the usual tests fail to provide definitive answers.

Does Health Insurance Cover Genetic Disorders?

Star Health Insurance covers a few congenital (genetic) conditions such as internal congenital anomalies according to the Insurance Regulatory and Development Authority of India (IRDAI) 2019 guidelines.

It's crucial to thoroughly review the specific terms and conditions of your health insurance policy to understand the extent of coverage for congenital disorders.

Check out our best policies!

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→ What is a Neurological Disorder

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