Discuss what Duchenne Muscular Dystrophy is.

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Discuss what Duchenne Muscular Dystrophy is.

Duchenne Muscular Dystrophy is named after French neurologist Amand Duchenne Guillaume Benjamin or Duchenne de Boulogne, who described the disease in his book “De l’electrisation localisee” of 1861, and in a greater detail in several publications in 1868. Duchenne muscular dystrophy (DMD) exists as the most common and severe form of childhood muscular dystrophy. DMD is due to a mutation on the X chromosome, and is, therefore, inherited as a so-called x-linked trait. It means, however, that only boys are usually affected. Within this regard, boys receive the gene from their mothers (women are carriers but exhibit no symptoms). It is frequent in approximately 1 in 3, 300 live male births (Stone, 2007). It has been discussed that any little boy who shows signs of a problem with muscle development should have a creatine phosphokinase test to exclude the possibility of Duchenne muscular dystrophy.

Due to its large size, the dystrophin gene is prone to spontaneous mutations. DMD is characterized by a progressive weakness and degeneration of the skeletal muscles that control movement (Emery, 2008). Sometimes the diagnosis of Duchenne muscular dystrophy is not made until school age. By then difficulty in walking is usually obvious. The boy suffering from this kind of disorder often walks: on his toes; with his abdomen pushed forwards; and with a waddling gait. These are early hallmarks of the disease and result from weakness of muscles of the pelvis, which normally extend the hips in order to retain the upright position when standing. Alternatively, late in the course of the disease, weakness may become so widespread as to blur its distribution, which at first was distinctive and characterized by a particular type of dystrophy.

References

Emery, A. E. H. (2008). Muscular Dystrophy. Oxford: OUP Oxford.

Stone, K. (2007). Occupational therapy and Duchenne muscular dystrophy. Chichester, England: John Wiley & Sons.