Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy Latest News

The Ministry of Social Justice & Empowerment, Government of India, observes World Duchenne Muscular Dystrophy Day every year on 7th September.

About Duchenne Muscular Dystrophy

• It is a rare genetic disorder which is characterized by progressive muscle degeneration and weakness.
• It is caused by a genetic problem in producing dystrophin, a protein that protects muscle fibers from breaking down when exposed to enzymes.
• It was first described by the French neurologist Guillaume Benjamin Amand Duchenne in 1860.
• It is characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin.
• It is a multi-systemic condition, affecting many parts of the body, which results in deterioration of the skeletal, heart, and lung muscles.
• The dystrophin gene is found on the X-chromosome, it primarily affects males, while females are typically carriers. 

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Symptoms of Duchenne Muscular Dystrophy

• 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).
• Usually, the lower external muscles are affected before the upper external muscles.
• The affected child might have difficulty jumping, running, and walking.
• Other symptoms include enlargement of the calves, a waddling gait, and lumbar lordosis (an inward curve of the spine).
• Treatments: Presently available treatments are gene therapy, exon skipping, stop codon read-through and gene repair.

Source: PIB