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Duchenne’s Muscular Dystrophy

Context:

A collaborative effort between doctors in Tamil Nadu and scientists in Japan has led to the development of a disease-modifying treatment for Duchenne Muscular Dystrophy (DMD). The treatment involves the use of a food additive called beta-glucan, which is produced by a strain of yeast called Aureobasidium pullulans, specifically the N-163 strain. This breakthrough offers hope for individuals suffering from DMD.

Relevance:

GS III: Science and Technology

About Duchenne’s Muscular Dystrophy:

  • Duchenne’s Muscular Dystrophy (DMD) is a rare genetic disorder.
  • It was first described by the French neurologist Guillaume Benjamin Amand Duchenne in 1860.
  • DMD is characterized by progressive muscle degeneration and weakness caused by mutations in the dystrophin gene, which leads to the absence or deficiency of the dystrophin protein.
  • It primarily affects males, while females are typically carriers due to the gene being located on the X-chromosome.
  • Symptoms typically appear in early childhood, with muscle weakness starting in the proximal muscles and later progressing to the distal limb muscles.
  • Common symptoms include difficulty in walking, running, and jumping, calf muscle enlargement, a waddling gait, and lumbar lordosis.
  • As the disease progresses, it affects the heart and respiratory muscles.
  • Current treatments for DMD include gene therapy, exon skipping, stop codon read-through, and gene repair approaches.

-Source: The Hindu


 

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