Patients with myotonic dystrophy are at particularly high risk for cancer arising in the endometrium, brain, colon, or ovary. Giant leiomyoma can occur in patients with myotonic muscular dystrophy, a disease accompanied by muscle wasting.

INTRODUCTION Myotonic dystrophy (MD) or Steinert's syndrome is a rare cause of chronic diarrhea and anal incontinence. In the presence of chronic diarrhea and fecal incontinence with muscle weakness, neuromuscular disorders such as myotonic dystrophy should be considered in the differential diagnosis. CASE PRESENTATION We present the case of a 45-year-old Turkish man with Steinert's syndrome,...

OBJECTIVES Myotonic dystrophy is a disease characterised by myotonia and muscle weakness. Psychiatric disorder and sleep problems have also been considered important features of the illness. This study investigated the extent to which apathy, major depression, and hypersomnolence were present. The objective was to clarify if the apathy reported anecdotally was a feature of CNS involvement or if...

There are currently two clinically and molecularly defined forms of myotonic dystrophy: (1) myotonic dystrophy type 1 (DM1), also known as 'Steinert's disease'; and (2) myotonic dystrophy type 2 (DM2), also known as proximal myotonic myopathy. DM1 and DM2 are progressive multisystem genetic disorders with several clinical and genetic features in common. DM1 is the most common form of adult onse...

The sustained expression of RNA-targeting Cas9 delivered intramuscularly or systemically by adeno-associated viral vectors eliminates pathogenic foci expanded-repeat transcripts and reverses muscle-disease phenotypes in mouse models myotonic dystrophy type 1.

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 9 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...

IN ISOLATED BUNDLES OF EXTERNAL INTERCOSTAL MUSCLE FROM NORMAL GOATS AND GOATS WITH HEREDITARY MYOTONIA THE FOLLOWING WERE DETERMINED: concentrations and unidirectional fluxes of Na(+), K(+), and Cl(-), extracellular volume, water content, fiber geometry, and core-conductor constants. No significant difference between the two groups of preparations was found with respect to distribution of fibe...

The management of a patient with myotonic dystrophy undergoing Caesarean section for delivery of twins in breech position is reported. Anaesthetic management must reflect the multi-system nature of the disease in addition to the implications of pregnancy. Known triggers of myotonic crisis (succinylcholine, shivering) must be avoided. Attention to respiratory reserve is necessary in view of the ...

Myotonic dystrophy is the most common autosomal dominant myopathy in adults. Our patient, a 41 year-old female suffering from myotonic muscular dystrophy, developed upper thoracic myelopathy due to hypertrophy of the ligamentum flavum and the posterior longitudinal ligament. She had a typical hatchet face and ptosis with "head hanging forward" appearance caused by neck weakness. Motor weakness,...

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...