Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene (chromosome 19q13.3). The disorder affects different organ systems, including the skeletal muscles, ocular lens, lungs, heart and gastrointestinal tract, as well as the endocrine and central nervou...

Myotonic dystrophy type 1 is the most common form of muscular in adults, and primarily characterized by muscle weakness myotonia, yet some disabling symptoms disease are cognitive behavioral. Here we evaluated several these non-motor from a cross-sectional time-point one largest longitudinal studies to date, including full-scale intelligence quotient, depression, anxiety, apathy, sleep, cerebra...

A 63-year-old woman with myotonic dystrophy type 21 and obstructive sleep apnea by polysomnography, not on medications traditionally known to cause REM behavior disorder (RBD), had dream-enacting behavior (DEB). Overnight continuous positive airway pressure titration captured an episode of DEB with clear recall (video on the Neurology Web site at www.neurology.org). There was absence of muscle ...

A clinical and genetic study of congenital myotonic dystrophy in Britain has been carried out in 70 patients from 54 sibships. The clinical aspects are analysed here, and the existence of a syndrome clinically distinct from myotonic dystrophy of later onset is confirmed. Characteristic features included neonatal hypotonia, motor and mental retardation, and facial diplegia. A high incidence of t...

We report on a myotonic dystrophy (DM) family exhibiting instability of normal sized (CTG)n alleles in the DM kinase gene on the non-DM chromosome. At least two mutational events involving normal DM alleles must have occurred in this family; one was characterised as a 34-35 (CTG)n repeat mutation. These findings represent a dissociation between (CTG)n repeat instability and myotonic dystrophy. ...

Myotonic dystrophy 1 (MD1) is caused by a CTG expansion in the 3'-unstranslated region of the myotonic dystrophy protein kinase (DMPK) gene. MD1 patients frequently present insulin resistance and increased visceral adiposity. We examined whether DMPK deficiency is a genetic risk factor for high-fat diet-induced adiposity and insulin resistance using the DMPK knockout mouse model. We found that ...

An unquiet life. Memoirs of a physician and cardiologist. This book is of unusual interest. It is not a history of cardiology in Belfast in the last forty years, though that is touched on in some of its aspects. It is the self-revelation of the remarkable man and physician who revolutionised the practice of cardiology in Belfast, in Ulster, and ultimately the world. He may not have meant it, bu...

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

The myotonic response of the masseter muscles following various doses of suxamethonium was measured using a unique myotonometer in 50 apparently healthy patients, the majority of whom showed a myotonic response which lasted less than 100 s. A maximum increase in masseter tone was found to be greater than 1 kg in five patients, and 12 patients developed a maximum tone of greater than 500 g. An i...