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.
