Duchenne Muscular Dystrophy

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.

 

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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'