BACKGROUND Myotonia and weakness are the most important components of dysarthric speech in myotonic dystrophy. OBJECTIVE To specify and quantify possible defects in speech execution in patients with adult onset myotonic dystrophy. METHODS Studies on speech production were done on 30 mildly affected patients with myotonic dystrophy. Special attention was paid to myotonia. Because muscle acti...

Patients with myotonic dystrophy often have an irregular pattern of breathing at rest, implying abnormality of breathing control. No central medullary defect has been found in such patients. We postulated that irregular breathing in myotonic dystrophy due to abnormal central respiratory output would persist during slow-wave sleep. We examined the patterns of breathing whilst awake and asleep in...

Myotonic dystrophy is a relatively common type of muscular dystrophy, associated with a variety of systemic complications. Long term follow-up is difficult because of the slow progression. The objective of this study was to determine survival, age at death and causes of death in patients with the adult-onset type of myotonic dystrophy. A register of myotonic dystrophy patients was set up in Sou...

The UK myotonic dystrophy patient registry is a self-enrolling online database collecting clinical and genetic information about type 1 (DM1) 2 (DM2). was established in May 2012 with support from muscular the group, assisted by TREAT-NMD Alliance coordinated Newcastle University. aims to; facilitate academic research, better characterise understand DM, disseminate relating to upcoming studies ...

We describe a 34-year old man presenting with subacute generalized myasthenic symptoms. His clinical features and laboratory investigations demonstrated both myasthenia gravis and myotonic dystrophy type 1. The computerized tomography of chest revealed anterior mediastinal mass. The lymphocyte-rich thymoma was removed surgically and he received radiotherapy. Recent observations suggested that t...

The primary genetic abnormality in myotonic dystrophy (DM) is an expansion of the CTG trinucleotide repeat on chromosome 19q. Recently, patients with similar clinical features, but without this genetic alteration, have been designated as proximal myotonic myopathy (PROMM). We describe two additional cases of PROMM, both of whom presented with clinical features suggestive of myotonic dystrophy. ...

Muscle biopsies from a series of myotonic dystrophy patients were analysed for expression of the nerve regulated gene products neural cell adhesion molecule (N-CAM) and 5.1H11. All eight biopsy specimens tested strongly expressed N-CAM and 5.1H11 as assessed by indirect immunofluorescence analysis. These results can be compared with those of Renaud et al (Nature, 1986;319:678) that show apamin ...

One of the challenges during the perioperative care of patients with myotonic dystrophy is the reversal of neuromuscular blocking agents. Agents that inhibit acetylcholinesterase, such as neostigmine, may precipitate myotonia, and are therefore relatively contraindicated. Sugammadex is a novel pharmacologic agent, which encapsulates rocuronium or vecuronium, thereby reversing their effect. We r...

OBJECTIVE To evaluate the health-related quality of life in myotonic dystrophy type 1 and its relationships with clinical, genetic, neuropsychological and emotional factors. DESIGN Case-control study of a continuous series of patients with myotonic dystrophy type 1. PATIENTS AND METHODS Twenty patients, and 20 age-, sex- and education-matched healthy controls underwent the MOS 36-Item Short...

Myotonic dystrophy (DM) is a complex multisystemic disorder linked to two different genetic loci. Myotonic dystrophy type 1 (DM1) is caused by an expansion of a CTG repeat located in the 3' untranslated region (UTR) of DMPK (myotonic dystrophy protein kinase) on chromosome 19q13.3. Myotonic dystrophy type 2 (DM2) is caused by an unstable CCTG repeat in intron 1 of ZNF9 (zinc finger protein 9) o...