Myotonic dystrophy is a genetic muscular disease that is frequently associated with cardiac arrhythmias. Bradyarrhythmias, such as sinus bradycardia and atrioventricular block, are more common than tachyarrhythmias. Rarely, previously undiagnosed patients with myotonic dystrophy initially present with a tachyarrhythmia. We describe the case of a 14-year-old boy, who was admitted to the hospital...

Myotonic dystrophy (dystrophia myotonica), the commonest and most variable of the muscular dystrophies of adult life, has long been known to be associated with cataract, while slit-lamp examination for specific lens opacities has been one of the principal methods of presymptomatic detection of gene carriers. The recent discovery that the myotonic dystrophy mutation is an unstable DNA sequence, ...

Electron magnetic resonance experiments have demonstrated that spin-labeled myotonic erythrocyte membranes have spectra that are recognizably different from those of normal erythrocytes. The spin label incorporated in the erythrocyte membranes of patients having myotonic muscular dystrophy is apparently located in a less polar and somewhat more fluid region than the label in a normal membrane. ...

Hopf's technique was used to measure maximal and minimal motor nerve conduction velocities, and the percentage of fibres with intermediate velocity, in the posterior tibial nerve in patients with myotonic dystrophy. A reduction of maximal and minimal conduction velocities was found. The distribution of fibres with intermediate velocity was nearly identical to that of the control group and the d...

Neither the maternal inheritance pattern nor the early onset of congenital myotonic dystrophy are fully explained. One possible mechanism is that mitochondrial DNA (mtDNA) mutations might interact with the DM gene product, producing an earlier onset than would otherwise occur. We have used Southern hybridisation to show that high levels of major rearrangements of mtDNA are not present in muscle...

Myotonia is repetitive firing of muscle action potentials causing prolonged muscle contractions even after mechanical stimulations to the muscles have ceased. Most common myotonic disorder is myotonic dystrophy which is now termed DM1, myotonic dystrophy type 1. In Japan, proximal myotonic myopathy, which is now called DM2 has not been reported. Both DM1 and DM2 have Cl channel abnormality whic...

INTRODUCTION Myotonic dystrophies are typically associated with ocular complications like ptosis, weakness of the ocular muscle and cataracts, but also with less recognized retinal changes. CASE REPORT A 41-year-old female with type 1 myotonic dystrophy complained of progressive vision loss. Slit lamp examination revealed the presence of typical bilateral polychromatic cataract with posterior...

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...

BACKGROUND Myotonic dystrophy type 2 is a multisystem disorder with both neurological and non-neurological signs and symptoms. Seizures are not a commonly associated neurological feature of this disorder. CASE PRESENTATION A 57-year-old white American man presented with a long history of clinical and electrophysiological features of a myotonic disorder. He also developed multiple episodes of ...

Three cases of androgen-dependent disease in females with myotonic dystrophy are described. Serum androgens in individuals affected by myotonic dystrophy are known to be lower on average than in normal controls. Despite this these three females developed diseases that are androgen dependent, including acne, hidradenitis suppurativa, androgenetic alopecia and keratosis pilaris. These cases suppo...