Recently, World Duchenne Muscular Dystrophy Day was observed by the Department of Empowerment of Persons with Disabilities (DEPwD).
About World Duchenne Muscular Dystrophy Day:
- It is observed on Seventh 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.
What is Duchenne Muscular Dystrophy?
- It is a rare genetic disorder which results from an X-chromosome mutation.
- 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 that helps keep muscle cells intact.
- It is a multi-systemic condition, affecting many parts of the body, which results in deterioration of the skeletal, heart, and lung muscles.
- It primarily affects males, while females are typically carriers.
- 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).
- Later on, the heart and respiratory muscles are affected as well.
- Treatments: Presently available treatments are gene therapy, exon skipping, stop codon read-through and gene repair.
Q1) What is Chromosome?
Chromosomes are long, thread-like structures found in the nuclei of eukaryotic cells, including the cells of humans and most other organisms. They are made up of DNA (deoxyribonucleic acid) and associated proteins, and their primary function is to store and organize genetic information.