World Duchenne Muscular Dystrophy Day

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    Syllabus: GS-2/Health

    Context

    • World Duchenne Muscular Dystrophy Day is observed on 7th September every year to raise awareness about Duchenne muscular dystrophy. 

    About:

    • The purpose of the day is to improve the quality of life for those who have dystrophinopathies (X linked muscle disorders) through education, advocacy, and social inclusion. 
    • The theme for 2023 is Duchenne: Breaking Barriers.
    • This day is observed by the Department of Empowerment of Persons with Disabilities (DEPwD) under the Ministry of Social Justice and Empowerment, Government of India.

    What is Duchenne Muscular Dystrophy (DMD)?

    • It is a genetic disorder characterized by progressive muscle degeneration and weakness due to the alterations of a protein called dystrophin that helps keep muscle cells intact.
      • Dystrophin, an enzyme secreted in the muscles, helps in wear and tear and regeneration of muscles.
    • It was first described by the French neurologist Guillaume Benjamin Amand Duchenne in the 1860s. In 1986, a particular gene on the X chromosome was identified that leads to DMD when flawed. 
    • Symptoms: Muscle weakness is the principal symptom. It first affects the proximal muscles (those close to the core of the body) and later affects the distal limb muscles (those close to the extremities).
      • Later on, the heart and respiratory muscles are affected as well. 
    • Carriers: DMD carriers are females who have a normal dystrophin gene on one X chromosome and an abnormal dystrophin gene on the other X chromosome. 
    • Survival: Until relatively recently, boys with DMD usually did not survive much beyond their teen years but due to advances in cardiac and respiratory care, life expectancy is increasing and survival into the early 30s is becoming more common than before.
    • Treatment: Currently available treatments were gene therapy, Exon-skipping and disease modifying agents (anti-inflammatory medicines such as steroids).
    • Recent treatment: Using a food additive – a beta-glucan produced by N-163 strain of a yeast Aureobasidium pullulans.
      • Along with regular treatment, the participants, all aged above three years, were given the beta-glucan in the form of a food supplement.

    Source: PIB