Clinical and electrical myotonia is caused by a small group of neuromuscular disorders. This article reviews myotonia and its differential diagnosis. The use of electrodiagnostic testing to evaluate the primary myotonic disorders (myotonic dystrophy and the nondystrophic myotonias) is also discussed.

We report the case of a 32-year-old man with Myotonic Dystrophy type 1 showing adenosine-induced sinus tachycardia during transesophageal electrophysiological evaluation.

Drug-induced rhabdomyolysis during pregnancy is extremely rare. We report here a rare case of ritodrine-hydrochloride-induced rhabdomyolysis in a pregnant patient with myotonic dystrophy. A 32-year-old primigravida was admitted because of premature labor at 31 weeks of gestation. She had been diagnosed as having myotonic dystrophy by electromyographic investigations and abnormal serum creatinin...

INTRODUCTION Myotonic dystrophy is a clinically and genetically heterogeneous multisystem disorder with a prevalence of 1 in 8000 in the general population. CASE PRESENTATION A 25-year-old Ethiopian man presented with symptoms of myotonia, muscle wasting, gait problems, frontal baldness, and family history characterizing the hereditary disorder myotonic dystrophy. He had been on treatment for...

Myotonia is characterized by hyperexcitability of the muscle cell membrane. Myotonic disorders are divided into two main categories: non-dystrophic and dystrophic myotonias. The non-dystrophic myotonias involve solely the muscle system, whereas the dystrophic myotonias are characterized by multisystem involvement and additional muscle weakness. Each category is further subdivided into different...

Myotonic dystrophies are multisystemic diseases characterized not only by muscle and heart dysfunction but also by CNS alteration. They are now recognized as brain diseases affecting newborns and children for myotonic dystrophy type 1 and adults for both myotonic dystrophy type 1 and type 2. In the past two decades, much progress has been made in understanding the mechanisms underlying the DM s...

Myotonic dystrophy (DM) is the most common form of muscular dystrophy and is caused by expansion of a CTG trinucleotide repeat on human chromosome 19. Patients with DM develop atrioventricular conduction disturbances, the principal cardiac manifestation of this disease. The etiology of the pathophysiological changes observed in DM has yet to be resolved. Haploinsufficiency of myotonic dystrophy...

Facioscapulohumeral dystrophy (FSHD) is the third most common type of muscular dystrophy after Duchenne and myotonic dystrophy with an incidence of 12 per 100,000 worldwide [1,2]. FSHD is an autosomal dominant disease with an insidious onset and development, characterized by progressive weakness and atrophy of facial, shoulder girdle and upper arm muscles [1]. Currently FSHD diagnosis is mainly...

Abstract Myotonic Dystrophy(MD) is an autosomal dominant genetic condition affecting the musculoskeletal system. Recurrent acute pancreatitis(RAP) a frequent presentation in emergency surgical scenario with two or more episodes of established pancreatitis separated by minimum 3 month periods. We report here case patient presenting background Dystrophy third episode RAP. Diagnostic work up led t...

Abstract The study has developed a model splicing construct assay system based on misregulation, one of the major molecular features associated with myotonic dystrophy. double reporters for intron 2 in chloride channel (CLCN1). CLCN1 transgene was used to transfect wild type and DM fibroblast cell lines clones generated showed that it enabled quantification efficiency construct. Validation fibr...