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Genetic Disorders: Types, Symptoms & Causes

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Genetic Disorders: Types, Symptoms & Causes

Neuro Sciences | by Dr. Kallol Kr. Dey | Published on 07/06/2024


Genetic disorders these days have become a matter of growing importance in the medical field and fascinate researchers, health experts, and patients as well. Genetic disorders are usually an outcome of anomalies in a person’s DNA causing a range of health problems. Some of them are evident right from the birth of a child, while others might experience the symptoms of these disorders later in life.

If you or your loved ones suffer from any type of genetic disorder, book your appointment with one of the best health professionals in Kolkata at The CMRI. You will not only find the best diagnosis but also treatment options that are right for you. 

It is vital to comprehend everything that’s related to genetic disorders for prompt diagnosis and treatment. In this guide, we will explore the nature of genetic disorders involving their symptoms, causes, types, and treatment options. However, please note that this is for informative purposes only and does not replace the significance of a doctor’s consultation. 

What Are Genetic Disorders?

Genetic disorders are conditions brought on by anomalies in a person's DNA. these abnormalities involve the removal or addition of complete chromosomes or chromosome sets, including a minor mutation in a single gene. This can influence any region of the body and can be inherited from parents or happen as new variations. Several health problems like physical distortions, growth delays, and enhanced vulnerability to several diseases.

What Are the Types of Genetic Disorders?

Healthcare experts have categorized the types of genetic disorders in the following manner depending on the nature and genetic anomalies location:

  • Single-Gene Disorders: Also referred to as monogenic disorders, these happen because of mutations in a single gene. The instances of this type are sickle cell anemia, cystic fibrosis, and Huntington’s disease.
  • Chromosomal Disorders: These are chromosome anomalies in terms of number or structures such as Down syndrome (trisomy 21), turner syndrome (monosomy X), and Klinefelter syndrome (XXY).
  • Multifactorial Disorders: This type is a result of variations in multiple genes often accompanied by environmental factors. It involves diabetes, heart diseases, and forms of cancer. 
  • Mitochondrial Disorders:
  • These are caused by mutations in the non-nuclear DNA of mitochondria. Examples include Leber's hereditary optic neuropathy and mitochondrial myopathy.

What Are Genetic Disorders Symptoms?

Genetic disorders differ hugely depending on the particular condition and influence widely depending on the specific condition and influences every part of the body. Here are some of the common symptoms to be aware of:

  • Delays in development like motor skills, speech, and learning.
  • Physical anomalies are there such as distinctive facial features, skeletal defects, and developmental abnormalities.
  • Neurological problems that involve seizures, intellectual disabilities, and behavioral issues.
  • Metabolic issues like energy production cause fatigue, muscle weakness, and organ dysfunction.
  • Sensory impairments such as hearing loss, vision issues, and other sensory deficits.
  • Chronic health conditions involve enhanced vulnerability to infections, heart disease, and other chronic diseases.

What Are Genetic Disorders Causes?

Genetic disorders occur due to mutation changes in the DNA sequence. These variations can be inherited from parents or happen spontaneously. Some of the primary causes:

  • Inherited Mutations: These mutations are transferred from one or both parents. It can be inherited by the issue.
  • De Novo Mutations: These mutations occur in the person’s DNA for the first time and are not inherited from either parent.
  • Environmental Factors: These factors involve radiation, chemicals, and viruses causing mutations leading to genetic disorders.
  • Chromosomal Abnormalities: Cell division faults can affect excess, missing, or scrambled chromosomes causing disorders such as Turner syndrome or Down syndrome

What Are Genetic Disorders Risk Factors?

Various risk factors are linked to genetic disorders increasing the probability of growing the following conditions:

  • Family History: It substantially increases the inheriting risk or transfers the condition to the generations. 
  • Parents Age: Aged parents, specifically mothers are at a high risk of having children with chromosomal anomalies like Down syndrome.
  • Combination of diseases: Someone having a combination of diseases that runs in the family for a long time, such as heart disease and diabetes. 

How Are Genetic Disorders Diagnosed?

Healthcare professionals initiate the diagnosis by amalgamating clinical assessment, several diagnostic tests, and family history. Here is how diagnoses are done: 

  • Physical Assessment: Healthcare experts learn signs and symptoms indicating a genetic disorder.
  • Family History: Obtaining comprehensive information about the family member's health history assists in understanding the case thoroughly. 
  • Genetic Testing: Different types of genetic testing can help confirm the diagnosis involving molecular tests as it help diagnose particular mutations in genes, chromosomal tests benefit in analyzing the chromosome structure, and biochemical tests help assess the proteins or enzyme levels influenced by genetic mutations.
  • Prenatal Testing: This involves test amniocentesis to identify genetic anomalies in a fetus.
  • Newborn Screening: Many genetic disorders are often diagnosed after birth through regular screening tests.

What Are Genetic Disorders Treatment Options?

Healthcare experts decide the treatment plan for the patient depending on the particular condition and its seriousness. It is essential to know that treatment only assists in managing the symptoms and enhancing overall quality of life but doesn’t cure genetic disorders. Options often involved in treating the problem are:

  • Medications: They help in managing symptoms, treating associated conditions, or replacing missing enzymes, and also slow down unusual cell growth.
  • Surgical Interventions: It is required for the correction of physical abnormalities or to avert any serious complications.
  • Gene Therapy: An experimental method aiming to rectify defective genes accountable for disease growth.
  • Physical and Occupational Therapy: Assists people in developing motor skills, improving muscle strength, and enhancing regular functioning. 
  • Blood Transfusions: Helps in restoring healthy blood cell levels. 


Genetic disorders have become an area of study and growing comprehension despite their seriousness and the intricacies they present. Progress in genetic research and technology is facilitating the way for augmented diagnostics, more efficient treatments, and possibly curative therapies in the coming times. As science is continuously emerging, there is anticipation that more proficient approaches will evolve to reduce conditions like this that aren't burdening people and families worldwide. If you suspect a genetic disorder, seek professional medical advice to get the appropriate care and support.

Faq -


Is autism a genetic disorder?

Yes, autism involves a strong genetic constituent, with multiple genes, and environmental factors also play an important role in its development.

How to prevent genetic disorders in pregnancy?

To prevent genetic disorders in pregnancy, one must ensure genetic counseling, prenatal screening, and adopting a healthy lifestyle. 

Can genetic disorders be treated?

Some genetic disorders can be managed or treated with medications, therapies, and lifestyle changes. Gene therapy and other advanced treatments are emerging but are not yet widely available for all conditions.

Are mental disorders genetic?

Many mental disorders have genetic components, such as schizophrenia and bipolar disorder. However, environmental factors and life experiences also significantly influence their development.

Which genetic disorders are caused by mutation?

Genetic disorders caused by mutations include cystic fibrosis, sickle cell anemia, and Huntington's disease. These result from specific changes or mutations in individual genes.

Can genetic disorders be detected before birth?

Yes, genetic disorders can be detected before birth through prenatal screening and diagnostic tests like amniocentesis and chorionic villus sampling (CVS).

How do genetic disorders occur?

Genetic disorders occur due to mutations in one or more genes, inheritance of defective genes from parents, or abnormalities in chromosomes, such as extra or missing chromosomes.