10 common genetic disorders: Symptoms, precautions, and expert insights you should know

Genetic mutations are permanent alterations in the DNA sequence – the instructional code of life – that can change how an organism develops, behaves, or functions. According to Dr Amit Saraf, Director of Internal Medicine, Jupiter Hospital, Thane, “They may cause changes in the functioning of the organism. Some of the illnesses manifest themselves early in life, whereas other ailments develop later and go unnoticed initially.”

These changes, often termed gene variants or molecular alterations, occur through DNA replication error or environmental damage, causing substitutions, deletions, or insertions in the nucleotide sequence.

10 Common Diseases Caused by Genetic Mutations and DNA Changes:-

1. Down Syndrome

According to Dr Sanjiv Mehta, Senior Consultant- Pediatrics, Kailash Deepak Hospital, “Down syndrome occurs when a person is born with an extra copy of chromosome 21. This extra chromosome affects how the brain and body develop, leading to intellectual and physical differences.”

Symptoms

According to Dr Mehta, there are several symptoms of this disease:-

1. Flat facial features

2. Poor Muscle tone

3. Mild to moderate intellectual disability

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2. Cystic Fibrosis

Dr Mehta explains, “Cystic fibrosis is caused by a mutation in the CFTR gene, which controls salt and water movement in cells. This leads to thick, sticky mucus buildup in the lungs and digestive system.”

Symptoms

1. Persistent cough

2. Frequent lung infections

3. Difficulty in breathing

4. Poor weight gain

5. Salty-tasting skin

3. Sickle Cell Disease

Sickle cell disease is caused by a mutation in the HBB gene that changes the shape of red blood cells from round to crescent. These abnormal cells block blood flow and break down easily.

Symptoms

1. Severe Pain

2. Fatigue

3. Swelling in hands and feet

4. Frequent Infections

4. Huntington’s Disease

Huntington’s disease is caused by a mutation in the HTT gene and leads to progressive breakdown of nerve cells in the brain. It is inherited and usually appears in mid-adulthood.

Symptoms

1. Involuntary jerky movements

2. Difficulty walking

3. Mood swings

4. Memory loss

5. Trouble with speaking or swallowing.

5. Phenylketonuria (PKU)

Dr Mehta explains, PKU is a metabolic disorder caused by a mutation in the PAH gene, which stops the body from properly breaking down the amino acid phenylalanine. This buildup damages the brain over time.

Symptoms

1. Seizures

2. Behavioural problems

3. Musty body odour

4. Lighter skin or hair than other family members.

6. Marfan Syndrome

Marfan syndrome is caused by a mutation in the FBN1 gene, which affects the body’s connective tissue. It impacts the heart, eyes, blood vessels, and skeleton.

Symptoms

1. Tall and thin body

2. Long fingers

3. Flexible joints

4. Curved spine

5. Heart value problems

6. Vision issue

7. Hemophilia

Hemophilia is a genetic disorder where blood does not clot properly due to mutations in clotting factor genes. It is mostly seen in males and is passed through the mother.

Symptoms

1. Excessive bleeding

2. Easy bruising

3. Painful swollen joints from internal bleeding

4. Prolonged bleeding after surgeries or injuries

8. Turner Syndrome

Turner syndrome affects females and occurs when one of the two X chromosomes is missing or partially missing. It influences growth, heart health, and reproductive development, says Dr Mehta

Symptoms

1. Short height

2. Delayed puberty

3. Infertility

4. Heart defects

5. Wide neck with extra skin folds

6. Learning difficulties in some cases

9. Tay-Sachs Disease

Tay-Sachs is caused by a mutation in the HEXA gene, which leads to the destruction of nerve cells in the brain and spinal cord. It is most common in infants and progresses rapidly.

Symptoms

1. Loss of motor skills

2. Muscle weakness

3. Seizures

4. Vision and hearing loss

10. Duchenne Muscular

DMD is caused by mutations in the dystrophin gene, which is essential for muscle strength. Without this protein, muscles progressively weaken and break down over time.

Symptoms

1. Difficulty walking

2. Frequent falls

3. Calf muscle enlargement

4. Trouble climbing stairs

5. Gradual loss of muscle function starting in early childhood.

Precautions

Dr Amit explains about the precautions that every person need to take:-

1. Routine health check-ups

2. A healthy lifestyle

3. Do Regular lung function

Dr Mehta adds

1. Early therapy programs

2. Staying hydrated

3. Avoid smoking

4. Avoid extreme temperatures

Understanding diseases caused by genetic mutations and DNA changes highlights how deeply our genes influence overall health. While some conditions are inherited, others may develop due to environmental factors or random changes in DNA. Early detection, genetic screening, and advances in medical research are making it increasingly possible to manage, treat, and even prevent certain genetic disorders. Staying informed and seeking timely medical advice can help individuals and families better navigate these conditions and make informed.

(This article is meant for informational purposes only and must not be considered a substitute for advice provided by qualified medical professionals. Always seek the advice of your doctor with any questions about a medical condition.)