Distrofia muscular duchene pdf

The diagnosis and management of duchenne muscular dystrophy, part 1. Dmd is the most common he reditary muscular dystrophy of infancy. Las mujeres casi nunca presentan dmdb, porque tienen dos cromosomas x. In 1987, the protein associated with this gene was identified and named dystrophin. Distrofias musculares definicion, etiologia, tipos, aspectos. Caracterizase pela degeneracao progressiva e irreversivel da musculatura esqueletica, levando a uma fraqueza muscular generalizada, devido a ausencia da proteina distrofina na membrana muscular. Artigo original perfil clinico e funcional dos pacientes com. In some older murine studies, evidence indicated that eccentric and highintensity exercise may result in decreases in muscle strength. Duchenne muscular dystrophy is an xlink recessive disorder that affects 1 per 3. In 1986, mdasupported researchers identified the gene that, when flawed a problem known as a mutation causes dmd. Duchenne muscular dystrophy, sometimes shortened to dmd or just duchenne, is a rare genetic disease. It primarily affects males, but, in rare cases, can also affect females. Pdf duchenne muscular dystrophy clinical presentation. Summary duchenne muscular dystrophy dmd is an inherited progressive.

Grange, phd5 1wake forest institute for regenerative medicine, wake forest university, winstonsalem, north carolina 27157, usa. Until the 1980s, little was known about the cause of any kind of muscular dystrophy. Summary duchenne muscular dystrophy dmd is an inherited progressive disorder, a chromosome xlinked recessive trait. The genetic change that causes duchenne a mutation in the dmd gene happens before birth and can be inherited. Becker muscular dystrophy is less common, affecting approximately 1 per 30 000 males. Duchenne causes the muscles in the body to become weak and damaged over time, and is eventually fatal. O gene responsavel pela dmd foi isolado em 1986 e identificouse.