Che significa Duchenne?

Che significa Duchenne?

La distrofia muscolare di Duchenne o DMD è una patologia neuromuscolare a trasmissione recessiva legata al cromosoma X, ed è caratterizzata da una degenerazione progressiva dei muscoli scheletrici, lisci e cardiaci, che genera debolezza muscolare diffusa.

Perché si muore di distrofia muscolare?

Nella distrofia muscolare di Duchenne si può arrivare a vivere fino alla terza decade di vita, le complicanze respiratorie e la cardiomiopatia sono di solito la causa del decesso, invece nella distrofia muscolare di Becker l'età media del decesso è di circa 40 anni.

What type of disease is Duchenne muscular dystrophy?

• About Duchenne Muscular Dystrophy. Duchenne muscular dystrophy (DMD) is a rapidly progressive form of muscular dystrophy caused by a mutation in the DMD gene. DMD is a rapidly progressive form of muscular dystrophy that occurs primarily in boys.

What is gonadal mosaicism in Duchenne muscular disease?

• Gonadal mosaicism refers to a condition where an individual has two or more cell populations that differ in genetic makeup in their eggs or sperm. Males who inherit or are born with a changed copy of the DMD gene will have DMD since they have a Y chromosome, and do not have back-up X chromosome.

Is golodirsen FDA approved for Duchenne muscular dystrophy?

• FDA-approved indication: December 2019, golodirsen (VYONDYS 53) was approved for the treatment of Duchenne muscular dystrophy (DMD) in patients who have a confirmed mutation of the DMD gene that is amenable to exon 53 skipping. National Library of Medicine Drug Information Portal