Rare Disease Day 2025: Five Rare Diseases in India That You May Have Never Heard Of

Rare diseases affect a small percentage of the population, but their impact on patients and families is often severe. On Rare Disease Day 2025, let’s look at five rare diseases found in India that many people may not be aware of.

1. Pompe Disease

• A genetic disorder that affects muscle function due to the buildup of glycogen in cells.
• Can lead to progressive muscle weakness and respiratory issues.

2. Gaucher Disease

• A condition where fatty substances accumulate in organs like the liver, spleen, and bone marrow.
• Causes pain, fatigue, and severe organ damage over time.

3. Wilson’s Disease

• A rare genetic disorder where excess copper builds up in the liver and brain.
• Can lead to neurological problems, liver failure, and behavioral changes.

4. Duchenne Muscular Dystrophy (DMD)

• A severe muscle-wasting disorder, mostly affecting boys.
• Causes loss of mobility and respiratory failure in advanced stages.

5. Hemophilia

• A rare blood-clotting disorder, where even minor injuries can cause excessive bleeding.
• Patients often require lifelong treatment to manage the condition.

Raising Awareness and Support

Since rare diseases often lack effective treatment options, early diagnosis and awareness are crucial. Many patients face high treatment costs and limited access to care. Observing Rare Disease Day helps in advocating for better research, treatment, and support for those affected.

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