BACKGROUND Ventricular arrhythmias have been documented and linked to the high incidence of sudden death seen in patients with myotonic dystrophy. However, their precise mechanism is unknown, and their definitive therapy remains to be established. METHODS AND RESULTS We studied 6 consecutive patients with myotonic dystrophy and sustained ventricular tachycardia by means of cardiac electrophys...

BACKGROUND Over the past 3 years, the genetics of the myotonic diseases have been substantially elaborated. Three genetically different groups of myotonic disease can be discerned: (1) the chloride channel myotonias, (2) the adynamia-paramyotonia complex, and (3) myotonic dystrophy. METHODS AND RESULTS Electrophysiology has suggested and molecular biology has proven that the diseases belongin...

Our ability to interact with those around us plays an important role in our relationships, mental well being and successfully navigate the complex social society which we live. Research cognitive neuroscience aims understand underlying neurobiology of behaviours interactions others. Myotonic dystrophy type 1 (DM1) is a genetically inherited neuromuscular disorder characterized by mytonia system...

objectives: myotonic dystrophy type i (dm1) is a dominantly inherited disorder with a multisystemic pattern affecting skeletal muscle, heart, eye, endocrine and central nervous system. dm1 is associated with the expansion and instability of ctg repeat in the 3' untranslated region of the myotonic dystrophy protein kinase (dmpk) gene located on chromosome 19q13.3. the aim of this study was ...

A sporadic Japanese case of myotonia congenita with painful muscle cramps is reported. Electromyographic examinations disclosed myotonic discharge with dive bomber sounds at insertion, and high-amplitude, high-frequency motor unit potentials during the muscle cramps. Biopsied muscle specimens and EMGfindings showednon-specific mild myopathic changes. There was no abnormal expansion of CTGrepeat...

Background Myotonic dystrophy type II (formerly denoted as proximal myotonic myopathy (PROMM)) is an autosomal dominantly inherited disease [1]. Sufferers are afflicted with skeletal muscle (SM) symptoms. Histopathologic changes of the SM include mild fibrosis and fatty degeneration[2]. The multisystemic disorder is also characterized by endocrine and metabolism disorder such as hypercholestero...

– Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date two distinct forms caused by similar mutations have been identified. Myotonic dystrophy type 1 (DM1, Steinert’s disease) was described more than 100 years ago and is caused by a (CTG)n expansion in DMPK, while myotonic dyst...

Background Myotonic dystrophy, the most common form of adult dystrophy, has been shown to be caused by amplification of CTG triplet repeat in the 3' untranslated region of a protein kinase gene located on chromosome 19. Impaired glucose metabolism has been suggested as a possible explanation of brain and skeletal muscle involvement in this multisystem disease. We investigated whether myocardial...

We have examined the hypothesis that the severe congenital form of myotonic dystrophy is caused by genomic imprinting at the level of differential DNA methylation of maternal and paternal alleles. Probes encompassing the 5', central, and 3' regions of the myotonic dystrophy protein kinase gene were used on blots of blood DNA from congenital and adult onset patients, digested with combinations o...

AIM The aim of this study is to assess if, and to what extent, myotonic dystrophy can affect the craniofacial growth pattern. MATERIALS AND METHODS The research was conducted on a sample of 27 patients with Steinert's myotonic dystrophy (study group). Each subject underwent a clinical examination with impression-taking and intra- and extraoral photographs. A latero-lateral projection teleradi...