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PubMed1994

[Anesthetic management for cesarean section in patients with maternal myotonic dystrophy].

Myotonic dystrophy involves not only voluntary muscles of extremities, pharyngeal muscle and respiratory muscle but also smooth muscle in the gastrointestinal tract. This muscle involvement can cause difficulty in excreting sputa, delayed emptying time of stomach and regurgitation of gastric content, all of which can lead to disastrous complications of anesthetic management. Pregnancy is rare because of ovarian atrophy. We report two cases of cesarean section for patients with myotonic dystrophy. In one case, the newborn baby had dyspnea due to congenital myotonic dystrophy, and in another case, patient experienced postoperative pneumonia. Our cases and other reports suggest that spinal or epidural anesthesia is safely applied for a cesarean section of a patient with myotonic dystrophy.

Adult↗
PubMed1998

Contrasts in clinical presentation and genetic transmission of myotonic dystrophy.

Myotonic dystrophy, the most common inherited neuromuscular disease, is an autosomal dominant muscular dystrophy characterized by myotonia and distal muscle weakness. It is caused by an increase in the number of cytosine-thymine-guanine (CTG) nucleotide repeats present on the long arm of chromosome 19. Two patients were evaluated, one with classic adult-onset myotonic dystrophy and the other with congenital myotonic dystrophy. Contrasts in the clinical features and genetic transmission of this disease and clinical management are reviewed.

Adult↗
PubMed1997

In vivo 23Na NMR studies of myotonic dystrophy.

Myotonic dystrophy is an inherited multi-system disease. Its pathophysiology leading to muscle malfunction and damage is not well understood. 23Na NMR spectroscopy was applied here for an in vivo comparative study of the calf muscles of 7 myotonic dystrophy patients at various stages of the disease and 11 healthy volunteers. Both the total sodium content, expressed as the ratio of the 23Na and 1H water signals, and the fast transverse relaxation time, T2f, determined from the triple quantum-filtered spectra, increased in correlation with the severity of the disease. The results demonstrate that 23Na NMR enables the quantitation of myotonic dystrophy progression.

Adolescent↗
PubMed2000

Continuous propofol anaesthesia for patients with myotonic dystrophy.

Myotonic dystrophy, a rare genetic disorder, may pose a serious problem to the anaesthesiologist due to muscular and extramuscular involvement. Thirteen patients, median age 21 yr were anaesthetized by continuous propofol infusion, fentanyl, atracurium and N2O to evaluate this combination in myotonic dystrophy. Intraoperatively, neither exaggerated reactions nor haemodynamic instability was observed. Recovery was smooth and quick. Although there was a significant decrease in mean postoperative vital capacity (965 (349) ml) from the preoperative value (1664 (566) ml, P = 0.0028), there was no change in mean postoperative SpO2 and there were no perioperative respiratory complications. Only two patients complained of nausea and vomiting. Similarly, muscular hypertonia and shivering were not observed. We conclude that the combination of continuous propofol infusion and fentanyl was a successful anaesthetic technique in these young myotonic dystrophy patients undergoing peripheral surgery.

Adolescent↗
PubMed1989

[Phenotype variability in Steinert's myotonic dystrophy].

Myotonic dystrophy, best known in the French literature as Steinert disease, is a dominantly inherited disorder. When the gene is fully expressed, it shows a characteristic clinical picture. Myopathy and myotonia are the main features, but this is a systemic disease which may involve many other organs such as the central nervous system, eyes, bones, endocrine system, etc. With the complete picture, physical and behavioral features make the diagnosis easy, only to be confirmed by neurological and ophthalmologic examination and/or electromyography. This work reviews the main clinical signs seen in the classical form of the disease. We also want to stress the variability of that picture. Finally, we describe a new dysmorphic sign in myotonic dystrophy: large prominent cupped auricles. Although not recognized, prominauris has been illustrated in a number of publications on myotonic dystrophy. Three of our adult male patients presenting the congenital form of the disease at birth have been investigated to rule out concomitant fragile-X syndrome. Both syndromes include mental retardation and dysmorphic ears. Our patients show the usual testicular atrophy, whereas the fragile-X syndrome includes testicular hypertrophy. Cytogenetic studies were normal. Old clinical description and new physical signs may lack prestige in the perspective of recent molecular biological breakthroughs, but to recognize the disease and help patients live with it will always be the role of practitioners.

Adult↗
PubMed1992

Expansion of an unstable DNA region and phenotypic variation in myotonic dystrophy.

Myotonic dystrophy is the commonest adult form of muscular dystrophy, with an estimated incidence of 1 per 7,500, although this is likely to be an underestimate because of the difficulty of detecting minimally affected individuals. It is a multisystem autosomal dominant disorder of unknown biochemical basis. No case of new mutation has been proven. We have isolated a human genomic clone that detects novel restriction fragments specific to individuals with myotonic dystrophy. A two-allele EcoRI polymorphism is seen in normal individuals, but in most affected individuals one of the normal alleles is replaced by a larger fragment, which varies in length both between unrelated affected individuals and within families. The unstable nature of this region may explain the characteristic variation in severity and age at onset of the disease. A second polymorphism at this locus is in almost complete linkage disequilibrium with myotonic dystrophy, strongly supporting our earlier results which indicated that most cases are descended from one original mutation.

Blotting, Southern↗
PubMed1993

Myotonia of the respiratory muscles in myotonic dystrophy.

Myotonic dystrophy is a muscle disorder in which there is a tendency to rapid shallow breathing and a reduced ventilatory response to chemical stimuli. Respiratory failure may occur when respiratory muscle weakness is not marked. One explanation proposed for these observations is that myotonia of the respiratory muscles reduces the compliance of the chest wall. However, direct electrical evidence of myotonia in the respiratory muscles with breathing is lacking. In 11 patients with myotonic dystrophy the scalene, sternocleidomastoid, a parasternal muscle, and a lateral intercostal muscle were studied using intramuscular bipolar wires. Five of the 11 patients had an elevated PaCO2. All patients had a FVC greater than 70% of predicted. Myotonia was sought with needle insertion, quiet tidal breathing, voluntary large breaths, and involuntary larger breaths with chemical stimulation. Two of the 11 patients demonstrated no myotonia. Myotonia on insertion of the needle was seen in four patients. Myotonia was rare in an isolated respiratory cycle during quiet breathing, and repetitive myotonia with consecutive breathing cycles was never noted. Voluntary big breaths produced myotonia in five patients, whereas chemically stimulated larger breaths produced myotonia in seven patients. In two of these seven patients, myotonic activity with consecutive respiratory cycles was seen at higher levels of ventilation. In conclusion, the rare occurrence of myotonia with tidal breathing would suggest myotonia in the muscles does not account for the respiratory failure and tachypneic breathing pattern found in myotonic dystrophy. Its occurrence at higher levels of ventilation may contribute to the reduced ventilatory response to chemical stimuli.

Adult↗
PubMed1983

Cataracts in myotonic dystrophy.

Myotonic dystrophy is a unique form of muscular dystrophy which is associated with a variety of ocular manifestations. Perhaps the most noteworthy of these is the distinctive myotonic cataract which often appears early on in the course of the disorder. In this report, a seemingly healthy young man who presented for routine visual examination was found to have specific lenticular changes suggestive of myotonic dystrophy. Other signs of this condition, including the myotonic facies, restrictions of ocular motility, and the myotonic handshake, were not readily apparent. Although visual acuity was not dramatically impaired, the unusual nature of the lens opacities, and in particular the presence of brilliant polychromatic particles, called for a neurologic consultation which promptly confirmed the diagnosis.

Adolescent↗
PubMed2006

Italian guidelines for molecular analysis in myotonic dystrophies.

Myotonic dystrophies, the most common form of adult muscular dystrophy, comprise at least two forms, clinically and genetically heterogeneous. Myotonic dystrophy type 1 and type 2 are both caused by unstable repetitions in untranslated gene regions: a [CTG]n expansion in the 3' region of the DMPK gene on chromosome 19q13 (DM1) and [CCTG]n tetranucleotide repeat located in the first intron of the ZNF9 gene on chromosome 3q21 (DM2). DM clinical features are caused by a gain of functions RNA mechanism in which the CUG and CCUG repeats alter nuclear functions, including alternative splicing of shared genes. Southern blot and/or polymerase chain reaction PCR-based approaches allow the detection of DM mutations in almost 100% of cases, however, the expansion size and the elevated grade of somatic instability make molecular testing for DM a diagnostic challenge. The increased use of DNA testing for DM generates many questions regarding the indications and interpretations of the test which require standardized methods, routinely available in molecular genetic laboratories. Here, we propose Guidelines for the molecular diagnosis of DM1 and DM2 approved by the Italian Ministry of Health in 2005 (Piano Nazionale Linee Guida, PNLG). Best practice for DM molecular analysis in diagnostic application, presymptomatic and prenatal testing, using direct and indirect approaches are described, with particular attention focused on ethical, legal and social issues. Overviews of materials used in the molecular diagnosis, as well as internet resources, are also included.

Genetic Testing↗
PubMedDate not supplied

[Current problems in myotonic dystrophy].

Myotonic dystrophy (m.d.) is an autosomal dominant multisystem disorder involving muscles, brain, heart, eye, endocrine system, alimentary and respiratory systems. M.d. is the most frequent cause of muscle dystrophy. Unstable CTG trinucleotide repeat at 3' untranslated end of the myotonic protein kinase gene on chromosome 19q 13.3 is the molecular basis of the disease. Normal length of CTG trinucleotide repeat is 5-40. Molecular mechanism of the myotonic dystrophy is discussed. Cataract, heart dysfunction, endocrine organs dysfunction, gallbladder stones, impotence are characteristic changes in patient with m.d. Apathy, drowsiness, sometimes dementia point to central nervous system involvement. Clinical course, correlation between CTG expansion and clinical manifestation are described. Nowadays progress in molecular genetic allows to make the diagnosis by DNA examination. Prenatal diagnosis is also possible.

Chromosomes, Human, Pair 19↗
PubMed1993

Direct molecular diagnosis of myotonic dystrophy.

Myotonic dystrophy (DM) arises from an unstable trinucleotide (CTGn) repeat sequence within the DM locus at 19q13.3. Twenty-three myotonic dystrophy families containing 205 persons with no symptoms, minimal manifestations, classic DM or congenital DM were investigated to validate the application of the pM10M6 probe to direct molecular diagnosis. Affected family members had been diagnosed clinically and the unaffected family members had been assigned carrier probabilities close to either zero or 100%, using closely linked flanking markers. Southern analysis identified all 89 DM gene carriers as having expansions of the unstable element. PstI detected all small expansions of the repeat sequence as easily seen discrete bands; but large expansions were usually seen as diffuse smears, sometimes difficult to distinguish from lane background. EcoRI concentrated these diffuse smears, associated with somatic instability, into discrete bands which were easy to detect; but it did not resolve the smaller expansions present in 9 (10%) of the DM carriers. It is essential that PstI and EcoRI gels are run in parallel to detect all DM gene carriers. The extent of expansion of CTG correlated with age of onset and disease severity. Biopsies of various fetal tissues from two terminated pregnancies confirmed the diagnosis obtained by CVS and revealed no heterogeneity between tissues at this developmental stage. Further expansion occurred during the culture of CVS cells, indicating that direct prenatal diagnosis needs to be carried out on CVS tissue rather than on cultured cells. The intergenerational change of the repeat sequence from DM parent to DM offspring showed a significant parental sex difference for those parents with large expansions. Contraction of the unstable element was observed in the three males carrying the largest expansions and could explain why congenital DM is exclusively of maternal origin.

Female↗
PubMed1998

Segregation distortion in myotonic dystrophy.

Myotonic dystrophy (DM) is an autosomal dominant disease which, in the typical pedigree, shows a three generation anticipation cascade. This results in infertility and congenital myotonic dystrophy (CDM) with the disappearance of DM in that pedigree. The concept of segregation distortion, where there is preferential transmission of the larger allele at the DM locus, has been put forward to explain partially the maintenance of DM in the population. In a survey of DM in Northern Ireland, 59 pedigrees were ascertained. Sibships where the status of all the members had been identified were examined to determine the transmission of the DM expansion from affected parents to their offspring. Where the transmitting parent was male, 58.3% of the offspring were affected, and in the case of a female transmitting parent, 68.7% were affected. Studies on meiotic drive in DM have shown increased transmission of the larger allele at the DM locus in non-DM heterozygotes for CTGn. This study provides further evidence that the DM expansion tends to be transmitted preferentially.

Female↗
PubMed2002

A combined technique utilising regional anaesthesia and target-controlled sedation in a patient with myotonic dystrophy.

Myotonic dystrophy presents several problems to the anaesthetist. We describe what we believe to be the first report of target-controlled sedation combined with regional anaesthesia in a patient with myotonic dystrophy. Precise control of propofol levels and titration to patient satisfaction avoided the problem of delayed recovery which has been described with propofol anaesthesia.

Anesthesia, Spinal↗
PubMed2002

Giardia lamblia infection in a patient with myotonic dystrophy.

Myotonic dystrophy is an autosomal dominant muscle disorder characterized by muscle wasting and weakness and a number of other systemic abnormalities. Some patients have hypo-IgG that is asymptomatic in most of them. We report the case of a 42-year-old woman with myotonic dystrophy and hypo-IgG who experienced asthenia and weight loss secondary to Giardia lamblia bowel infection.

Adult↗
PubMed1992

Relative disease severity in siblings with myotonic dystrophy.

Myotonic dystrophy is an autosomal dominant disorder in which an early-onset form is characteristically inherited from the mother. We studied 17 affected sibling pairs from 15 families in which two or more affected children were born to mothers with myotonic dystrophy. Later-born affected children suffered more severe disease than their first-born siblings in 13 of 17 sibling pairs. Later-born affected siblings displayed significantly more neonatal feeding difficulties, later age when first sitting alone, later age when first walking alone, and a higher incidence of scoliosis. The overall difference in disease severity between affected siblings increased as the age difference between them increased, suggesting that increasing maternal age is a factor in the relative disease severity of affected children. These findings may have relevance for genetic counseling.

Adult↗
PubMedDate not supplied

Gastroparesis in neonatal myotonic dystrophy.

Myotonic dystrophy in the neonate is commonly accompanied by facial diplegia, generalized muscular hypotonia, talipes equinovarus, and muscular respiratory failure. The gastrointestinal manifestations of this disease include poor sucking, choking, regurgitation, aspiration, and swallowing difficulties. Gastroparesis can be a major contributor to the feeding difficulties experienced by these infants. We report on an infant with congenital myotonic dystrophy in whom a severe gastric motility problem was alleviated by metoclopramide therapy. This smooth muscle manifestation may be an important and potentially remediable source of morbidity in these infants.

Female↗
PubMed1996

Identification of two nuclear proteins which bind to RNA CUG repeats: significance for myotonic dystrophy.

Myotonic dystrophy is caused by a trinucleotide repeat expansion (CTG)n, located in the 3' untranslated region of the DM-protein kinase gene. The cellular effects of the CTG expansion and how they lead to the diverse, multi-system clinical phenotype of DM are unknown. Studies on the expression of the DM gene in affected tissue have not yielded consistent results, leading to the suggestion that alterations of DM-PK may not be the sole molecular basis for DM. We explored the hypothesis that the expanded repeat in mutant DM RNA (CUG)n binds and titrates out nuclear RNA binding proteins. Alterations in the normal function of these proteins could result in the disruption of important cellular processes. We report here the identification and magnetic bead affinity purification of two nuclear proteins, 35 and 25 kD in size, which bind to RNA (CUG)n repeats and to a varying extent with other pyrimidine rich sequences. Sequence analysis of the 35 kD protein shows that it is a novel protein. Both these proteins are widely expressed, including human brain and skeletal muscle. We speculate that these proteins may play a role in DM pre-mRNA processing or nuclear cytoplasmic trafficking of RNA. Studies into the function of these proteins should yield important insights into the complex pathogenesis of myotonic dystrophy.

Amino Acid Sequence↗