Abstract Purpose of the review Myotonic dystrophy types 1 and 2 are frequent forms muscular dystrophies in adulthood. Their clinical differences need to be taken into account for most appropriate treatment patients. The aim this article is provide an overview on current upcoming therapeutic options patients with myotonic type (DM2). Recent findings At moment, no disease-modifying therapies avai...

PURPOSE OF REVIEW To highlight recent advances in understanding the clinical manifestations and molecular genetics of myotonic syndromes, with particular emphasis on the myotonic dystrophies. RECENT FINDINGS Myotonic syndromes include the non-dystrophic myotonias, caused by mutations in genes encoding the chloride or sodium channels that are specific to skeletal muscle, and the myotonic dystr...

Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy type 2 clinically and neuropsychologically well-characterized patients and a corresponding healthy control group using structural brain magnetic resonance imaging at 3 T (T(1)/T(2)/diffusion-weighted). Voxel-based morphomet...

Mexiletine as the first choice drug in myotonia treatment is a chiral sodium channel blocker clinically used in its racemic form. The phenolic structure of this drug, prompted us to design its novel calix[4]arene-based cluster in a chalice-shaped structure. Therefore, the present study reports the synthesis and in-vitro anti-myotonic activity of the chalice-shaped cluster of mexiletine...

Mexiletine as the first choice drug in myotonia treatment is a chiral sodium channel blocker clinically used in its racemic form. The phenolic structure of this drug, prompted us to design its novel calix[4]arene-based cluster in a chalice-shaped structure. Therefore, the present study reports the synthesis and in-vitro anti-myotonic activity of the chalice-shaped cluster of mexiletine...

A 25-year-old man presented with a 10-year history of difficulty in relaxing his muscles. He was bodybuilding champion in his city without doing any exercise. Neurologic examination revealed well-formed skeletal muscles (first part of the video: http://ijnl.tums.ac.ir/public/891-725-1-Part1.mov) and myotonia most prominent in the eyes (a lag in opening the eyes after forceful closure) and hands...

myotonic dystrophy (dm), one of the most common forms of muscular dystrophy, is an inherited disorder of the muscles and other body systems. dm is a progressive genetic disorder with a triplet repeat autosomal mutation that affects an estimated 1 in 8000 people. myotonic dystrophy type 1, also known as steinerts disease, and type 2 caused by mutation in dmpk and cnbp genes, respectively. in eac...

1. Electrical and contractile properties of resealed fibre segments were investigated by a variety of in vitro techniques. The preparations were removed from skeletal muscles of normal subjects and of eight patients with myotonic dystrophy. 2. Several hours after removal, fibre segments from normal subjects and those patients in whom myotonia was the primary symptom had resting membrane potenti...

Abstract Introduction Physiology of excessive daytime sleepiness (EDS) in myotonic dystrophy type 1 (DM1) remains incompletely understood and best practice treatment approaches are unclear. Report case(s) We present a 73-year-old man with atrial fibrillation, implantable cardioverter defibrillator for inducible ventricular tachycardia, hypertension, severe obstructive sleep apnea (OSA) was refe...

Myotonia reflects a state of muscle fiber hyperexcitability. Impaired transmembrane conductance of either chloride or sodium ions results in myotonia. Myotonic disorders include the myotonic dystrophies and nondystrophic myotonias. Mutations in the genes encoding chloride (ClC-1) or sodium (SCN4A) channels expressed exclusively in skeletal muscle cause nondystrophic myotonias. Genetic defects i...