Myotonic Dystrophy Essay

Myotonic Dystrophy is an autosomal dominantly inherited disorder at which an individual has the inability to relax his or her muscles; thus progressing to muscle degeneration and decrease muscle tone [1]. Currently there are two types of muscular dystrophy that are known in the both the medical and scientific community. There’s type one myotonic dystrophy also known as congenital myotonic dystrophy which has an onset at birth. Then there is type two, myotonic muscular dystrophy which has an onset at adulthood[2]. Both type one and type two myotonic dystrophy have many similarities where they share a repeat expression in noncoding regions and similar RNA transcript defects. Both type one and type two myotonic dystrophy covey similar symptoms such as severe muscle weakness, early cataract development and myotonia[3] Type one myotonic muscular dystrophy is caused by a trinucleotide repeat expansion in noncoding 3’UTR of DMPK and other alterations in the DM1 locus [4]. Do to this defect, a trinucleotide repeat expansion will produce a defective RNA transcript thus translating protein that are defective. Currently, there are three different types of myotonic dystrophy I (DM1) that’s currently recognized. The first type is the known as the congenital form which …show more content…
There are other differences that are associated with with these myotonic dystrophy’s such as the disease onset. The age of onset for individuals with type one myotonic dystrophy is 0 <20 while type two individuals with type two myotonic dystrophy is 0 >20. Type two myotonic dystrophy late onset have been found to lead to a larger phenotypic variability, symptoms may be progressively less[8]. Between both type one and type two myotonic dystrophy there are proposed mechanism that are responsible such as changes in gene expression, protein translation and micro- RNA