Myotonic dystrophies or dystrophia myotonica (DM) is a clinical syndrome that includes myotonic dystrophy type 1 (DM1), myotonic dystrophy type 2 (DM2), myotonic dystrophy type 3 (DM3), and so forth. The terminology was recommended by the new nomenclature for myotonic dystrophies of an International Panel for Consensus. Previous studies have shown that DM1 is caused by the expansion of a cytosi...

Myotonic dystrophy is an autosomal dominant neuromuscular disorder characterised by extreme pleiotropism and variability in disease expression. A congenital form is rare and is observed in infants born to symptomatic mothers with multisystem involvement. We report a case of a neonate with congenital myotonic dystrophy born to an asymptomatic mother.

Clinical and electrical myotonia is caused by a small group of neuromuscular disorders. This article reviews myotonia and its differential diagnosis. The use of electrodiagnostic testing to evaluate the primary myotonic disorders (myotonic dystrophy and the nondystrophic myotonias) is also discussed.

Levels of immunoglobulins IgG, IgA, and IgM were measured in 38 patients with myotonic dystrophy, in normal members of their families, and in matched controls. Log IgG was significantly reduced in the patients. IgG investigation provides a further parameter to appraise the status of apparently unaffected members of myotonic dystrophy families.

OBJECTIVE Although the conventional prevalence of myotonic dystrophy is 1:8,000, the prevalence in Korean population was recently reported as 1:1,245. With higher domestic result than expected, we aimed to investigate the clinical characteristics of pregnancies complicated by congenital myotonic dystrophy in our institution. METHODS We have reviewed 11 paired cases of neonates diagnosed with ...

OBJECTIVE To detect disconjugate ocular motor abnormalities and a possible extraocular muscle myotonic phenomenon in patients with myotonic dystrophy (MyD). METHODS The magnetic scleral search coil technique was used to record monocularly the small (25 degrees ) and large (50 degrees ) saccades, which were paced to two interstimulus intervals (ISIs), one short (1 s), the other long (5 s). The...

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....

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 ...