VARIOUS RARE MEDICAL

Visakhapatnam: 684 patients suffer from rare conditions on ICMR registry

​Among the reported conditions are primary immunodeficiency disorders, lysosomal storage disorders (such as Gaucher’s disease, Mucopolysaccharidoses, Pompe disease, Fabry disease), small molecule inborn errors of metabolism (like Maple syrup urine disease, organic acidemias), cystic fibrosis, osteogenesis imperfecta, certain forms of muscular dystrophies, and spinal muscular atrophy.