Journalism of Courage
The Department of Science and Technology (DST) has approved a project to establish a pre-natal diagnostic technique for Duchenne Muscular Dystrophy a disease found in males that leads to muscle degeneration and death at a young age at the Pune regional centre of the Maharashtra University of Health Sciences (MUHS).
One in 3,500 males gets the disease,which is genetic and is transmitted from the mother. The females,though carriers,are not affected.The disease manifests in muscular weakness that sets in when the patient is around 3 to 4 years of age. He finds it difficult to stand up from a sitting position,or climb and descend stairs. It progresses and the patient is wheelchair-bound by the age of 15. Death occurs by the age of 20.
There is no satisfactory treatment though some drugs and myoblast transfer are being evaluated, says Dr Prakash Gambhir,head,Department of Genetics,MUHS,Pune regional centre. Females are carriers, he says. The mother passes it on to the son. His sisters are likely carriers. The disease is not manifested in women as the gene is on the X chromosome. Females have a normal gene the male patient does not have, explains Gambhir.
We will study genes of patients. This will also help in detection of carriers and pre-natal diagnosis. A grant of Rs 14 lakh has been received from the DST, says Gambhir who is also associate professor,pediatrics,Sassoon General Hospital.
