Duchenne muscular dystrophy is a degenerative disorder in which there is progressive symmetrical weakness of skeletal muscles with proximal muscles affected more than distal and lower limbs affected first. The etiology is genetic, with an X-linked recessive transmission, usually familial, but with a relatively high occurrence (15-30%) of transmission via mutation. The specific genetic mechanism has been identified as deletions, and occasionally duplications or point mutations, in the dystrophin gene that result in dystrophin deficiency, which in turn causes a cascade of events ending in muscle fiber breakdown.
An X-linked recessive disorder (that is, the abnormal gene is carried on the X chromosome). This means that the disease occurs almost exclusively in males, as its presence in a female is counteracted by the normal gene likely to be in her other X chromosome. The disorder involves progressive muscular weakness and wasting. It is the most common form of muscular dystrophy, occurring in 30 per 100,000 live male births, often but not always in families with other members having the disorder.
A sex-linked disorder in which the person lacks a protein needed for muscle function; as a result, muscle tissue breaks down and a person loses muscle control.
In the realm of muscular dystrophy, there exists a particularly severe form known as Duchenne muscular dystrophy (DMD). This condition predominantly affects young boys and is characterized by a progressive weakening of the muscles, typically commencing in the lower extremities. Over time, the muscle weakness associated with DMD worsens, posing significant challenges to mobility and overall physical function. Awareness and appropriate management of this condition are crucial to provide support and enhance the quality of life for individuals affected by DMD.