Understanding Duchenne Muscular Dystrophy

Duchenne Muscular Dystrophy, also known as DMD, is a breakdown and weakness of the muscles in the arms and legs, as well as the heart and breathing functions. This weakness is caused from a genetic defect in a specific protein known as "dystrophin". Although there is no cure for Duchenne Muscular Dystrophy, there is ongoing research into the replacement of the missing gene. 

  • Duchenne Muscular Dystrophy affects males, and although females are usually not affected, they can be carriers.
  • It is usually diagnosed in early childhood.
  • Duchenne Muscular Dystrophy is the most frequently occurring and one of the most rapidly progressive of the childhood neuromuscular disorders.
  • Globally, Duchenne Muscular Dystrophy affects one in every 3500 live male births.

There are early signs of Duchenne Muscular Dystrophy including toe walking, larger than normal calf muscles and speech delay. The child may also be a late walker, show a "waddling" type gait, and may be unable to run or climb stairs. Children with Duchenne Muscular Dystrophy may also develop varying behavioural disorders such as Autism Spectrum Disorder, Attention Deficit Hyperactivity Disorder and Obsessive Compulsive Disorder. 

 

References:
Muscular Dystrophies & NMD’s Overview

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