Dystrofia myotonica type 2

dystrofia myotonika type 1 1 dystrofia myotonika levealder 2 dystrophia myotonica type 2 3 dm 2 4 Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulin-insensitive type 2 diabetes mellitus, and other endocrine abnormalities. While myotonia (involuntary muscle. 5 Type 2 (DM2), also known as proximal myotonic myopathy (PROMM), is rarer and generally manifests with milder signs and symptoms than DM1. Other forms of myotonic dystrophy not associated with DM1 or DM2 genetic mutations have been described. 6 Myotonic dystrophy type 2 (DM2) is characterized by myotonia and muscle dysfunction (proximal and axial weakness, myalgia, and stiffness), and less commonly by posterior subcapsular cataracts, cardiac conduction defects, insulin-insensitive type 2 diabetes mellitus, and other endocrine abnormalities. While myotonia (involuntary muscle. 7 Myotonic dystrophies (dystrophia myotonica, or DM) are inherited disorders characterized by myotonia and progressive muscle degeneration, which are variably associated with a multisystemic phenotype. 8 Definisjon:Dystrofia myotonica type 2 er en nevromuskulær sykdom som skyldes mutasjoner i genet CNBP (dette kan påvirke proteinproduksjonen indirekte ved å. 9 Et karakteristisk tegn er vansker med avslapning av muskulatur etter muskelsammentrekning, noe som kalles myotoni. 10 Myotonic dystrophy type 2, one of the two types of myotonic dystrophy, is an inherited muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, and pancreas). It is characterized by prolonged muscle tensing (myotonia) as well as muscle weakness, pain, and stiffness. 12