variation of muscle fiber size, muscle fiber necrosis, scar tissue formation and inflammation) in muscle biopsy from patients. Each disorder is characterized by specific abnormalities (e.g. The muscular dystrophies are characterized by weakness and degeneration of various voluntary muscles of the body. These alterations are inherited in an autosomal dominant manner.ĭM is a type of muscular dystrophy.
DM2 is caused by an alteration in the CNBP gene. DM1 is caused by an alteration in the DMPK gene. DM type 2 (DM2) causes similar symptoms to DM1, but is generally a less severe disorder and does not cause congenital disease. Congenital DM1 is characterized by muscle weakness (hypotonia), difficulty breathing, intellectual disability and early death. before the age of 50), and abnormalities in the heart’s conduction of electrical impulses. Classic DM1 is characterized by muscle weakness and wasting (atrophy), myotonia, early-onset cataracts (i.e. Mild DM1 is characterized by clouding of the lenses of the eyes (cataracts) and sustained muscle contractions (myotonia), in which the muscles do not relax after use.
DM type 1 (DM1) can be further classified as mild DM1, classic DM1 and congenital DM1. The disorder is abbreviated DM, which is for dystrophia myotonia. Myotonic dystrophy refers to two rare genetic disorders of muscle that actually affect multiple systems of the body.
0 kommentar(er)
