AN AI~A~S'rHESIOLOCIST is aware of the need for caution when confronted with a patient suffering from a myotonic syndrome. On reviewing the literature, 1,2 it becomes evident that the stress has been on the myotonic aspects of the disease. However, dystrophia myotonica is a multisystem disease, and the following case report and related discussion illustrate the many facets which need considerat...

Myopathic involvement of the perianal musculature is one of the less well recognised features of myotonic dystrophy in children and may present with physical signs suggestive of sexual abuse. Details of six children with myotonic dystrophy are presented to emphasise the importance of considering an underlying myopathic condition in the differential diagnosis of anal laxity.

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...

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...

Myotonic dystrophy is a dominantly inherited clinically variable multisystemic disorder, and has been found to be caused by heterozygosity for a trinucleotide repeat expansion mutation in the 3' untranslated region of a protein kinase gene (DM kinase). The mechanisms by which the expanded repeat in DNA results in a dominant biochemical defect and the varied clinical phenotype, is not known. We ...

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. ...

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 ...

Objective/background. This is a case presentation of a primary multifocal monomorphic and pleomorphic adenoma, with possible association with myotonic dystrophy. Methods/presentation. The patient was a 36-year old woman with myotonic dystrophy with multiple left parotid masses. Biopsy and final pathology demonstrated discrete de novo pleomorphic and monomorphic adenomas. Conclusions/impact. The...

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...