Abstract Myotonic dystrophy is a dominantly inherited multisystem disorder that results from increased CTG repeats in the 3′ region of myotonic protein kinase gene (DMPK). The mutant DMPK mRNA remains nucleus and sequesters RNA-binding proteins, including regulators splicing. characterized by highly variable phenotype includes muscle weakness myotonia, may affect function many endocrine glands....

Abstract Purpose of the review Myotonic dystrophy types 1 and 2 are frequent forms muscular dystrophies in adulthood. Their clinical differences need to be taken into account for most appropriate treatment patients. The aim this article is provide an overview on current upcoming therapeutic options patients with myotonic type (DM2). Recent findings At moment, no disease-modifying therapies avai...

– Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date two distinct forms caused by similar mutations have been identified. Myotonic dystrophy type 1 (DM1, Steinert’s disease) was described more than 100 years ago and is caused by a (CTG)n expansion in DMPK, while myotonic dyst...

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...

Myotonic dystrophy (DM) is the most common adult muscular dystrophy, characterized by autosomal dominant progressive myopathy, myotonia and multiorgan involvement. To date two distinct forms caused by similar mutations have been identified. Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expansion in DMPK, while myotonic dystrophy type 2 (DM2) is caused by a (CCTG)n ex...

Although the genetic basis of the congenital form of myotonic dystrophy has recently been clarified, data as to outcome in terms of life expectancy and morbidity are scanty. Life table data based on a cohort of 115 patients with a confirmed diagnosis of congenital myotonic dystrophy are presented. The data suggest a 25% chance of death before 18 months of age and a 50% chance of survival into t...

Myotonic dystrophy is a disorder ofparticular interest to ophthalmologists since some degree of cataract is almost universal and being manifest early in the course of the disease may first bring the patient to seek medical advice. Other ocular signs include ptosis, blepharitis, extraocular muscle palsies, macular or more widespread retinal disturbance, and (rarely) corneal lesions (Junge, I966)...

1. Serum bile acids in seven patients with adult type myotonic dystrophy and 22 normal persons were quantitatively analysed by gas-liquid chromatography and gas chromatography-mass spectrometry for cholesterol, gamma-glutamyltransferase and bilirubin. There was no bile obstruction in any patient. 2. Dexoycholic acid values in all mothers of patients with congenital type myotonic dystrophy were ...

Harper, P. S. (1975). Archives of Disease in Childhood, 50, 505. Congenital myotonic dystrophy in Britain. I. Clinical aspects. 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 confirme...