1/100. myotonic dystrophy and progressive cognitive decline: a common condition or two separate problems?We report the case of NG, a 43-year old woman with myotonic dystrophy (MYD) who has shown a slow decline in both motor and cognitive abilities since her referral to us at age 32. MYD is an autosomal dominant disorder characterised by weakening and wasting of the muscles together with impaired muscle relaxation. Cognitive abilities are usually little affected in the adult onset form, although there is a high risk of cognitive impairment in those with childhood onset. Cognitive decline is also typically associated with maternal inheritance. NG, who was diagnosed with MYD at the age of 18, inherited it from her father. We report the decline in NG's cognitive abilities over 11 years of longitudinal assessment, and consider whether she is an atypical MYD patient or whether the MYD and cognitive decline are attributable to two separate pathological processes.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
2/100. Antenatal and preoperative genetic and clinical assessment in myotonic dystrophy.The antenatal investigation of an obstetric patient with a history of myotonia is described. The smooth and striated muscle dysfunction in myotonic dystrophy renders these patients, as a group, liable to surgical correction and exposure to anaesthesia. A caesarean section is reported to illustrate the preferred timing of diagnosis and peripartum management. While regional anaesthesia is preferred, myotonic dystrophy is not a contraindication to general anaesthesia, provided risks are anticipated and steps taken to minimize complications.- - - - - - - - - - ranking = 0.5keywords = muscle (Clic here for more details about this article) |
3/100. Reduction of the DM-associated homeo domain protein (DMAHP) mRNA in different brain areas of myotonic dystrophy patients.myotonic dystrophy (DM) is a multisystemic disease caused by expansion of a CTG trinucleotide repeat in the 3' untranslated region of the DMPK protein kinase gene on chromosome 19q13.3. The mechanism by which this expansion causes disease remains unknown. It has been suggested that CTG expansion not only affects the expression of the DMPK gene, but also alters the nuclear rna metabolism and expression of neighboring genes. DMAHP, which is expressed in various human tissues, including skeletal muscle, heart and brain, is immediately distal to the 3' end of DMPK gene, in a CpG island which contains the CTG repeat. Here we report a 4- to 5-fold reduction of the expression of the DMAHP gene in different brain areas of DM patients. Our results demonstrate that [CTG]n expansion alters the brain DMAHP mRNA expression supporting a dominant-negative effect at the cellular level of DM [CTG]n mutation. The reduced brain expression of DMAHP could explain cerebral impairment in DM patients.- - - - - - - - - - ranking = 0.5keywords = muscle (Clic here for more details about this article) |
4/100. myotonic dystrophy associated with insulinoma.We describe a 51-year-old man with myotonic dystrophy (MyD) associated with insulinoma. In addition to the typical symptoms of MyD, he showed hypoglycemic attacks after meals. The radiological examination and selective blood sampling revealed an insulinoma in the head of the pancreas. The tumor was resected and histopathologically diagnosed as an insulinoma. In Southern blot analysis, CTG repeat of the myotonin protein kinase gene in the insulinoma showed the longest expansion, followed by normal tissue of the pancreas, muscle and white blood cells. Therefore, microsatellite instability was the most prominent in the tumor cells.- - - - - - - - - - ranking = 0.5keywords = muscle (Clic here for more details about this article) |
5/100. Elongation of (CTG)n repeats in myotonic dystrophy protein kinase gene in tumors associated with myotonic dystrophy patients.Length of (CTG)n triplet repeats in myotonic dystrophy protein kinase gene (DMPK) was estimated in tumors, normal tissues of the same organs, muscles, and leukocytes from three myotonic dystrophy (DM) patients and a non-DM patient. Using cDNA 25 as a probe, a Southern blot analysis of EcoRI- and BglI-digested dna from these tissues demonstrated the longest expansion of the repeats in the tumors of DM patients. In all tissues from a non-DM patient, the repeat length was confirmed to be stable by PCR analysis. Our data suggest that expanded (CTG)n repeat in tumor tissues may have increased the instability. This study emphasizes the importance of a long-term prospective study on the incidence of tumors in DM to clarify the pathological interrelation between the two entities.- - - - - - - - - - ranking = 0.5keywords = muscle (Clic here for more details about this article) |
6/100. The utility of the determination of CTG trinucleotide repeat length in hypotonic infants.A 9-month-old male infant was floppy from birth with nonprogressive facial and distal limb weakness and apparently normal mother and father. The facial characteristics and distribution of involvement suggested congenital myotonic dystrophy and the infant, but not the mother, had insertional myotonia in one of four muscles tested. Had the number of CTG trinucleotide repeats been tested when the presence of a congenital myotonic dystrophy-like clinical picture was first appreciated, the proper diagnosis could have been made several months earlier. The application of new molecular genetic techniques is changing the usual sequence of studies performed in the evaluation of the hypotonic infant.- - - - - - - - - - ranking = 0.50238409646094keywords = muscle, limb (Clic here for more details about this article) |
7/100. myotonic dystrophy: a report of two cases from one family.The authors report two cases of a brother and sister who suffered myotonic dystrophy and had a family history of the disease. Muscular dystrophy--more severe in the boy and mild in the girl--was the clinical manifestation. EMG findings corresponded to a primary muscle disorder, coinciding with myotonic activity in case 1. The genealogical study of four generations of this family revealed a descent pattern of inheritance. Anticipation--a characteristic phenomenon of the disease expressed in the occurrence of the disorder at earlier ages and in more severe forms in the successive generations--was also observed.- - - - - - - - - - ranking = 0.5keywords = muscle (Clic here for more details about this article) |
8/100. Proximal myotonic myopathy: clinical and molecular investigation of a Norwegian family with PROMM.Proximal myotonic myopathy (PROMM) was first described in 1994 as a multisystem disorder with similarity to myotonic dystrophy (DM), but without the abnormal (CTG)n expansion in the DM protein kinase (DMPK) gene. The inheritance is autosomal dominant and the clinical features include myotonia, proximal muscle weakness and cataract. Linkage analysis in nine German PROMM families has indicated the possibility of linkage to DM2 locus on chromosome 3. We report a Norwegian PROMM family in which the proband was clinically diagnosed as DM but without the (CTG)n expansion. Using an intragenic marker we showed that the DMPK gene did not segregate with the disease in this family. All family members are heterozygous for the R894X mutation in CLCN1 gene. Linkage analysis could not be performed, but haplotyping probably excludes the DM2 locus as the disease locus in this family. The present family emphasises that myalgia is a prominent symptom in PROMM and the clinical differences may be explained by genetic heterogeneity. This family will be reinvestigated along with the identification of candidate genes or regions in larger PROMM families.- - - - - - - - - - ranking = 0.5keywords = muscle (Clic here for more details about this article) |
9/100. Congenital myotonic dystrophy: report of paternal transmission.A female neonate born to a healthy mother was hospitalized because of enlargement of the lateral ventricles, muscle weakness, irregular respiration, and poor sucking. Characteristic facial appearance such as high forehead and carp mouth were noted. The father had mild manifestations of adult type myotonic dystrophy, including muscle weakness of the extremities, percussion myotonia and atrophy of the facial muscles. PCR analysis and southern blot analysis revealed that CTG repeats in the myotonic dystrophy gene of the infant and the father were about 1000 and 400, respectively. This is a rare case showing paternally transmitted congenital myotonic dystrophy and seems to be the first report describing a neonate.- - - - - - - - - - ranking = 1.5keywords = muscle (Clic here for more details about this article) |
10/100. Proximal myotonic myopathy and proximal myotonic dystrophy: two different entities? The phenotypic variability of proximal myotonic syndromes.Multisystemic myotonic myopathies are characterised by a variable pattern of symptoms and signs and a variable degree of disease severity. Proximal myotonic dystrophy has been described as an entity distinct from proximal myotonic myopathy because of severe proximal muscle weakness and dystrophic changes on magnetic reasonace imaging and on muscle histopathology. We describe two siblings, one of them presenting with a proximal myotonic myopathy phenotype, the other with a proximal myotonic dystrophy-like phenotype. The variability of disease expression in these two siblings suggests that a proximal myotonic dystrophy-like variant may occur in proximal myotonic myopathy.- - - - - - - - - - ranking = 1keywords = muscle (Clic here for more details about this article) |
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