About Myotonic Dystrophy
The term muscular dystrophy is used to represent a group of muscle diseases characterized by muscle weakness and wasting of muscles. Several forms of muscular dystrophy are present among which the three most important ones are Duchenne Muscular dystrophy (DMD), facioscapulohumeral dystrophy, and myotonic Dystrophy. Myotonic dystrophy should not be confused with other forms of the disease. The characteristic feature of the disease, myotonia is not seen in any other form of muscular dystrophy. The disease be seen in newborn infants, at the time of birth (congenital MMD) or can manifest later during adolescence or adulthood (adult onset MMD).
The genetic disease is one of the best examples for a phenomenon called ' anticipation' in which the age of onset of the disease is early and the disease severity is greater in the successive generations. For example, a grandmother with the disease is only slightly affected, then mother is moderately affected and the grandchild severely affected. The disease might even be undetectable in the older generation while it may be severe enough to cause death in the recent generation.
The genetic defect responsible for myotonic muscular dystrophy has been traced to chromosome 19. The disease is transmitted in an autosomal dominant fashion; the disease is seen in every successive generation. Usually, equal number of males and females are affected. The disease may be transmitted from the father to son.
Latest Publications and Research on Myotonic DystrophyMolecular genetics and genetic testing in myotonic dystrophy type 1. - Published by PubMed
Myotonic dystrophy type 1 (DM1): A triplet repeat expansion disorder. - Published by PubMed
Uninterrupted CCTG tracts in the myotonic dystrophy type 2 associated locus. - Published by PubMed
Muscular myopathies other than myotonic dystrophy also associated with (CTG)n expansion at the DMPK locus. - Published by PubMed
Mechanical and electrophysiological substrate for recurrent atrial flutter detected by right atrial speckle tracking echocardiography and electroanatomic mapping in myotonic dystrophy type 1. - Published by PubMed