Keywords: Myotonic dystrophy, Dystrophia Myotonica Protein Kinase (DMPK) gene, Epilepsy, Temporal lobe

myotonic dystrophy (dm), one of the most common forms of muscular dystrophy, is an inherited disorder of the muscles and other body systems. dm is a progressive genetic disorder with a triplet repeat autosomal mutation that affects an estimated 1 in 8000 people. myotonic dystrophy type 1, also known as steinerts disease, and type 2 caused by mutation in dmpk and cnbp genes, respectively. in eac...

Myotonic dystrophy types 1 and 2 are progressive multisystemic disorders with potential brain involvement. We compared 22 myotonic dystrophy type 1 and 22 myotonic dystrophy type 2 clinically and neuropsychologically well-characterized patients and a corresponding healthy control group using structural brain magnetic resonance imaging at 3 T (T(1)/T(2)/diffusion-weighted). Voxel-based morphomet...

the myotonic disorders are a heterogeneous group of genetically determined diseases that are unified by the presence of myotonia, which is defined as failure of muscle relaxation after activation. the presentation of these disorders can range from asymptomatic electrical myotonia, as seen in some forms of myotonia congenita (mc), to severe disability with muscle weakness, cardiac conduction def...

The present report describes a sibship with 2 individuals affected by myotonic dystrophy and a third with syringomyelia. The mother was affected by myotonic dystrophy. A balanced 2/13 translocation was detected in the individual with syringomyelia, in one affected by myotonic dystrophy and in their clinically normal father. The association between the phenotypic anomalies and the chromosome alt...

The close genetic linkage between the loci for apolipoprotein CII (ApoC2) and myotonic dystrophy makes ApoC2 the closest fully validated marker for prediction of myotonic dystrophy. Application to genetic counselling and presymptomatic and prenatal prediction is reported in seven families with myotonic dystrophy, including one case in which the disorder was excluded prenatally. Only one of the ...

PURPOSE OF REVIEW To highlight recent advances in understanding the clinical manifestations and molecular genetics of myotonic syndromes, with particular emphasis on the myotonic dystrophies. RECENT FINDINGS Myotonic syndromes include the non-dystrophic myotonias, caused by mutations in genes encoding the chloride or sodium channels that are specific to skeletal muscle, and the myotonic dystr...

Previous studies of patients with myotonic dystrophy have demonstrated hyperinsulinism after glucose loading. This hyperinsulinism has been attributed by some investigators to tissue insulin resistance. We have directly studied insulin sensitivity of forearm muscle in patients having such hyperinsulinism. The effect of an intrabrachial arterial insulin infusion (100 mu U/kg per min) on glucose ...

We report the case of a male patient presenting in his 50s with ptosis, facial and distal limb muscle weakness, clinical electrical myotonia, prior history cataract extraction. He had dominant family keeping similar phenotype. Myotonic dystrophy type 1 was clinically suspected. Triplet-primed polymerase chain reaction diagnostic laboratory did not identify typical CTG repeat expansion on two se...

OBJECTIVE Oropharyngeal dysphagia is a common feature of patients with myotonic dystrophy and is not usually perceived due to their emotional deficits and lack of interest. The aim was to show the existence and frequency of subclinical electrophysiological abnormalities in oropharyngeal swallowing and to clarify the mechanisms of dysphagia in myotonic dystrophy. METHODS Eighteen patients with...