These 5 diseases are rare of the rarest in India, one in 10 thousand falls victim to them, they can become ‘fatal’

Rare Disease Day 2024: When our body’s immune system becomes weak, then many diseases can attack simultaneously. These diseases can be cured with treatment and medicines. However, some diseases are so serious that they cannot be treated and their cause and symptoms are not even known. Such diseases are kept in the list of rare diseases. To create awareness about such diseases, Rare Disease Day (Rare Disease Day 2024) is celebrated on 29 February.

That’s why this special day was chosen

This date comes only once in four years, hence this day has been chosen. Let us tell you that today more than 30 crore people in the world are vulnerable to such diseases. One in every 10,000 people in India is facing the threat of rare disease.

Rare disease figures in India

At present there is no definition or data available for rare diseases in our country. According to a figure, about 450 rare diseases have been registered in hospitals so far. These diseases include primary immunodeficiency disorder, lysosomal storage disorder, mucopolysaccharidoses, Pompe disease and Fabry disease. Apart from these, congenital diseases related to metabolism are maple syrup urine disease and carbonic acidemia. Cystic fibrosis, some muscular dystrophies and spinal muscular atrophy are also included in this list.

5 rare diseases found in India

1. Primary immunodeficiency disorder

The immune system of people affected by this disease (Primary immunodeficiency disorder) does not function properly. This means that people with PI are at risk of infection and becoming more ill. There can be more than 400 types of it. Everyone’s effects are also different. If detected early, some can be controlled.

2. Lysosomal Storage Disorder

Inborn disorders of metabolism result from accumulation of excessive amounts of substrate in cells of many organs due to a malfunctioning lysosome system. This is such a serious disease (Lysosomal Storage Disorder), due to which death can also occur.

3. Pompe Disease

This is a genetic disease, in which a complex sugar called glycogen is formed in the lysosomes of the cells. When a digestive enzyme called acid alpha-glucosidase decreases in the body, then this disease (Pompe disease) occurs. It weakens the muscles.

4. Fabry disease

In case of this disease (Fabry disease), the vital enzyme to break down fats like glycolipid is not present in the body. This is a genetic disorder. In this, fat gets accumulated in blood vessels and tissues. This can cause kidney damage, stroke, heart disease and eye problems.

5. Maple Syrup Urine Disease

This disease is caused by genetic disorder. Due to this disease (Maple syrup urine disease), the body is not able to process amino acids, the building blocks of some proteins. Due to this, dangerous substances start forming in the blood and urine, which can be serious.

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