Duchenne Muscular Dystrophy

Table of Contents☰

What is Duchenne Muscular Dystrophy (DMD)?

It is the most common and fatal type of muscular dystrophy marked by progressive muscle degeneration and weakness due to alterations of a protein called “dystrophin” that helps keep muscle cells intact.
Patients (usually children) have reduced bone density and an increased risk of developing fractures.
India has over 5 lakh patients in the country suffering from DMD and the condition is predominantly seen in boys, but in rare cases, it can also affect girls.
It can begin as early as age 2 or 3, first affecting the proximal muscles (those close to the core of the body) and later affecting the distal limb muscles (those close to the extremities).
Symptoms: Enlargement of calves, a waddling gait, and lumbar lordosis (an inward curve of the spine)
The current therapeutic options available to treat DMD are minimal and highly expensive treatment and are mostly imported from abroad.

Q1) What is a genetic disorder?

A genetic disorder is a disease caused in whole or in part by a change in the DNA sequence away from the normal sequence. This can be caused by a mutation in one gene or multiple genes.

Source: Indian researchers developing a treatment for the rare genetic disorder ‘Duchenne Muscular Dystrophy’