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World Duchenne Muscular Dystrophy Day 2023

World Duchenne Muscular Dystrophy Day 2023:

World Duchenne Muscular Dystrophy Day was observed by the Department of Empowerment of Persons with Disabilities (DEPwD).

  • World Duchenne Muscular Dystrophy Day is observed on the Seventh of September each year to raise awareness about Duchenne muscular dystrophy.
  • The purpose of the day is to support efforts that will improve the quality of life for those who have dystrophinopathies through education, advocacy, and social inclusion.
  • Duchenne Muscular Dystrophy is a rare genetic disorder that results from an X-chromosome mutation.
  • It was first described by the French neurologist Guillaume Benjamin Amand Duchenne in 1860.
  • It is characterised by progressive muscle degeneration and weakness due to alterations of a protein called dystrophin that helps keep muscle cells intact.
  • It is a multi-systemic condition affecting many parts of the body, that results in the deterioration of the skeletal, heart, and lung muscles.
  • It primarily affects males, while females are typically carriers.
  • Symptoms:
    • 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.
  • Treatments: Presently available treatments are gene therapy, exon skipping, stop codon read-through and gene repair.