1/5. Importance of physical rehabilitation before and after cardiac transplantation in a patient with myotonic dystrophy: a case report.patients with muscular dystrophy and concomitant cardiomyopathy are only reluctantly accepted for heart transplantation because of the perioperative risk secondary to respiratory muscle weakness. We describe a man with Steinert's disease (myotonic dystrophy) who received a cardiac allograft because of end-stage dilated cardiomyopathy. This case shows the importance of uninterrupted physiotherapeutic training and assistance to minimize respiratory infections and ventilatory insufficiency in patients with muscle diseases under high-dose immunosuppression. To our knowledge, this is the first heart transplantation reported in a patient with Steinert's disease who has clinically overt muscular impairment.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/5. Severe cardiac arrhythmias in young patients with myotonic dystrophy type 1.Cardiac tachyarrhythmias have rarely been studied in young patients with myotonic dystrophy type 1 (DM1). The authors observed major cardiac rhythm disturbances in 11 patients aged 10 to 18 years. Tachyarrhythmic events were more frequent than impulse conduction disorders. Wide variations in CTG expansion were observed among the population. Since physical exercise was a prominent arrhythmogenic factor, systematic exercise tests with EKG monitoring may be indicated in young patients with DM1.- - - - - - - - - - ranking = 0.25keywords = physical (Clic here for more details about this article) |
3/5. Neuromuscular disorders in clinical practice: case studies.Neuromuscular disorders represent a large group of highly varied and interesting clinical disorders, many of which have major general medical manifestations. These disorders can be diagnosed largely based on the patient's history and physical examination with a little help from modern technology. Despite the outdated belief that neurologic conditions are diagnosed but rarely treatable, all cases discussed herein represent disorders for which there are extensive options and opportunities for meaningful management. These 16 brief case overviews challenge and refresh diagnostic skills and provide the framework for selected comments regarding management options.- - - - - - - - - - ranking = 0.25keywords = physical (Clic here for more details about this article) |
4/5. Ciliary and retinal changes in myotonic dystrophy.We examined 15 patients with myotonic dystrophy by cycloscopy, ophthalmoscopy, and fluorescein angiography. In six cases, we found depigmentation in the relatively short ciliary processes, which may account for ocular hypotony in this disorder. Eight of the patients had retinal lesions, three with butterfly-shaped dystrophy, two with reticular dystrophy, and three with peripheral yellow flecks. These lesions were biomicroscopically at the level of the retinal pigment epithelium or in the deep retinal layer and did not substantially alter visual functions. Psychophysical and electrophysiologic test results were normal or only slightly affected. The butterfly-shaped and reticular dystrophies in myotonic dystrophy may be variant forms of patterned dystrophy of the retinal pigment epithelium. The peripheral yellow flecks in a stone-wall configuration noted in this disorder are particularly unique and, to our knowledge, have not been documented previously.- - - - - - - - - - ranking = 0.25keywords = physical (Clic here for more details about this article) |
5/5. De novo myotonic dystrophy mutation in a Nigerian kindred.An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype. In addition, a single haplotype composed of nine alleles within and flanking DMPK over a physical distance of 30 kb has been shown to be in complete linkage disequilibrium with DM. This has led to two hypotheses: (1) predisposition for (CTG)n instability results from a founder effect that occurred only once or a few times in human evolution; and (2) elements within the disease haplotype may predispose the (CTG)n repeat to instability. A detailed haplotype analysis of the DM region was conducted on a Nigerian (Yoruba) DM family, the only indigenous sub-Saharan DM case reported to date. Each affected member of this family had an expanded (CTG)n repeat in one of his or her DMPK alleles. However, unlike all other DM populations studied thus far, disassociation of the (CTG)n repeat expansion from other alleles of the putative predisposing haplotype was found. We conclude that the expanded (CTG)n repeat in this family is the result of an independent mutational event. Consequently, the origin of DM is unlikely to be a single mutational event, and the hypothesis that a single ancestral haplotype predisposes to repeat expansion is not compelling.- - - - - - - - - - ranking = 0.25keywords = physical (Clic here for more details about this article) |