[march]Rare diseases Flashcards
Context?
- Delhi High Court has set up a special committee to find a time-bound solution on ways to provide treatment and therapy options to patients suffering from rare diseases.
- it’s AKA orphan disease
What?
any disease that affects a small percentage of the population.mostly genetic
What is Duchenne Muscular Dystrophy (DMD)?
condition that causes progressive muscle degeneration and weakness in the victim.
What is Hunter’s syndromes?
mostly affects boys and their bodies cannot break down a kind of sugar that builds bones, skin, tendons etc.
most common rare diseases recorded in India are?
Haemophilia, Thalassemia, sickle-cell anaemia and primary immuno deficiency in children, auto-immune diseases, Lysosomal storage disorders such as Pompe disease, Hirschsprung disease, Gaucher’s disease, Cystic Fibrosis, Hemangiomas and certain forms of muscular dystrophies.
What is Haemophilia?
inherited bleeding disorder in which the blood does not clot properly.
What is Thalassemia?
body doesn’t make enough of a protein called hemoglobin
What is sickle-cell anaemia and primary immuno deficiency?
an inherited red blood cell disorder in which there aren’t enough healthy red blood cells to carry oxygen throughout your body.
What is auto-immune diseases?
condition in which your immune system mistakenly attacks your body
What is Pompe disease?
disorder that disables the heart and skeletal muscles
What is Hirschsprung disease?
condition that affects the large intestine (colon) and causes problems with passing stool.
What is Gaucher’s disease?
metabolic disorder in which deficiency of the enzyme glucocerebrosidase results in the accumulation of harmful quantities of certain fats
What is Cystic Fibrosis?
causes severe damage to the respiratory and digestive systems.
What is Hemangiomas?
noncancerous growths of blood vessels.
What is muscular dystrophies.?
A group of genetic diseases that cause progressive weakness and loss of muscle mass.
