Patient's perspective about research landscape for rare diseases in India

J Biosci. 2024:49:25.

Abstract

I am writing this piece as the parent of a son diagnosed with Duchenne muscular dystrophy, a severely debilitating disease that not only impairs skeletal muscles of the limbs but is also life-threatening due to progressive weakening of the cardiac and diaphragm muscles. I have traversed the harrowing diagnostic, treatment, and management odyssey of a typical rare disease (RD) patient in India.

MeSH terms

  • Animals
  • Disease Models, Animal
  • Humans
  • India / epidemiology
  • Muscle, Skeletal
  • Muscular Dystrophy, Duchenne* / diagnosis
  • Muscular Dystrophy, Duchenne* / epidemiology
  • Muscular Dystrophy, Duchenne* / genetics
  • Rare Diseases* / diagnosis
  • Rare Diseases* / epidemiology
  • Rare Diseases* / genetics