Diagnosis Code 359.29 information, including descriptions, synonyms, code edits, ICD-10 conversion and references to the diseases index.

TY - JOUR. T1 - Video-laparoscopic colecystectectomy in patient suffering of gallbladder lithia-sis and myotonic distrophy of steinert. AU - Nardone, A.. AU - Marradi, C.. AU - Tiberio, G. A M. AU - Spinnler, P.. AU - Meola, G.. AU - Giuràti, G.. AU - Croci, M.. AU - Tiberio, G.. AU - Giulini, S. M.. AU - Gattinoni, L.. PY - 2000/1. Y1 - 2000/1. N2 - Steinerts disease (SD) is a rare (3-5/100000) myotonic myopathy responsible for chronic restrictive respiratory insujfi-cency and dilatative myocardiopathy. The authors report the case of a 52 years old female patient with SD who underwent laparoscopic colecystectectomy for cholelithiasis. Postoperative course was uneventful and the patient was discharged after 4 days. Laparoscopic surgery was effective and safe in the treatment of this pathology.. AB - Steinerts disease (SD) is a rare (3-5/100000) myotonic myopathy responsible for chronic restrictive respiratory insujfi-cency and dilatative myocardiopathy. The authors report the case of a 52 ...

Looking for online definition of congenital myotonic myopathy in the Medical Dictionary? congenital myotonic myopathy explanation free. What is congenital myotonic myopathy? Meaning of congenital myotonic myopathy medical term. What does congenital myotonic myopathy mean?

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are separate genetic diseases with some overlapping and some unique clinical features. Myotonic Dystrophy Type 1. Introduction. Despite clinical and genetic similarities, DM1 and DM2 are distinct disorders. Myotonic dystrophy type 1 (DM1) and myotonic dystrophy type 2 (DM2) are autosomal dominant, multisystem disorders characterized by skeletal muscle weakness and myotonia, cardiac conduction abnormalities, iridescent cataracts, and other abnormalities. Snapshot: A 35-year-old man presents to his primary care physicians office for difficulty chewing and walking and mild musclar pain. The management and prognosis of patients with DM will be reviewed here. One third of DM1 patients die suddenly, most of them due to the heart conduction abnormalities and arrhythmias. 0. Methods: This study comprised 111 adult patients with DM1. Review Topic. A toxic gain-of-function of abnormally stored RNA in the nuclei of affected cells is assumed to be ...

Myotonic dystrophy is an autosomal dominant, multisystem disorder that is characterized by myotonic myopathy. The symptoms and severity of myotonic dystrophy type l (DM1) ranges from severe and congenital forms, which frequently result in death because of respiratory deficiency, through to late-onset baldness and cataract. In adult patients, cardiac conduction abnormalities may occur and cause a shorter life span. In subsequent generations, the symptoms in DM1 may present at an earlier age and have a more severe course (anticipation). In myotonic dystrophy type 2 (DM2), no anticipation is described, but cardiac conduction abnormalities as in DM1 are observed and patients with DM2 additionally have muscle pain and stiffness. Both DM1 and DM2 are caused by unstable DNA repeats in untranslated regions of different genes: A (CTG)n repeat in the 3-UTR of the DMPK gene and a (CCTG)n repeat in intron 1 of the CNBP (formerly ZNF9) gene, respectively. The length of the (CTG)n repeat expansion in DM1 correlates

Multiple deletions of mitochondrial DNA (mtDNA) are recognised in association with a number of clinical phenotypes, including chronic progressive external ophthalmoplegia (CPEO) and myoneurogastrointestinal encephalopathy (MNGIE). The abnormality may be sporadic or inherited in a recessive or autosomal dominant fashion and is generally considered to be secondary to an abnormality of nuclear DNA.1. Tubular aggregates (TA) are histological bodies consisting of densely packed, double walled tubules 50-70 nm in diameter, originating from the lateral sacs of the sarcoplasmic reticulum.2 Their functional significance remains controversial: in a small group of progressive myopathies, TA form the dominant or even the sole structural abnormality, but more commonly they appear as an accessory histopathological feature in a wide variety of neuromuscular disorders, both inherited and acquired. The strongest association appears to be with periodic paralysis and myotonic disorders, but the finding is by no ...

Myotonic dystrophy type 1, one of the two types of myotonic dystrophy, is an inherited type of muscular dystrophy that affects the muscles and other body systems (e.g., heart, eyes, pancreas). Myotonic dystrophy type 1 has been categorized into three somewhat overlapping subtypes: mild, classic, and congenital (present at birth). Symptoms of the mild form are the least severe with a normal life span. The classic form is characterized by muscle weakness and wasting, prolonged muscle tensing (myotonia), cataract, and often abnormal heart function; adults may become physically disabled and may have a shortened life span. The congenital form is characterized by severe generalized weakeness at birth (hypotonia), often causing complications with breathing and early death. The condition is inherited in an autosomal dominant pattern and is caused by mutations in the DMPK gene ...

OBJECTIVE: To determine the frequency and relative importance of the most life-affecting symptoms in myotonic dystrophy type 2 (DM2) and to identify the factors that have the strongest association with these symptoms. METHODS: We conducted a cross-sectional study of adult patients with DM2 from a National Registry of DM2 Patients to assess the prevalence and relative importance of 310 symptoms and 21 symptomatic themes. Participant responses were compared by age categories, sex, educational attainment, employment status, and duration of symptoms. RESULTS: The symptomatic themes with the highest prevalence in DM2 were the inability to do activities (94.4%), limitations with mobility or walking (89.2%), hip, thigh, or knee weakness (89.2%), fatigue (89.2%), and myotonia (82.6%). Participants identified the inability to do activities and fatigue as the symptomatic themes that have the greatest overall effect on their lives. Unemployment, a longer duration of symptoms, and less education were ...

Collaborative research between teams from the Department of Paediatrics and the Institut de Myologie shows how antisense oligonucleotides can penetrate muscles to treat myotonic dystrophy type 1, a rare muscle disease.

The myriad of neuropsychiatric manifestations reported in myotonic dystrophy type 1 may have its origin in alterations of complex brain network interactions at the structural level. In this study, we tested the hypothesis that altered white matter microstructural integrity and network organisation w …

Myotonic dystrophy (DM), the most common form of muscular dystrophy in adults, can be caused by a mutation on either chromosome 19q13 (DM1) or 3q21 (DM2/PROMM). DM1 is caused by a CTG expansion in the 3′ untranslated region of the dystrophia myotonica-protein kinase gene (DMPK). Several mechanisms have been invoked to explain how this mutation, which does not alter the protein-coding portion of a gene, causes the specific constellation of clinical features characteristic of DM. We now report that DM2 is caused by a CCTG expansion (mean ∼5000 repeats) located in intron 1 of the zinc finger protein 9 (ZNF9) gene. Parallels between these mutations indicate that microsatellite expansions in RNA can be pathogenic and cause the multisystemic features of DM1 and DM2. ...

The pathogenesis of myotonic dystrophy type 2 includes the sequestration of MBNL proteins by expanded CCUG transcripts, which leads to an abnormal splicing of their target pre-mRNAs. We have found CCUG(exp) RNA transcripts of the ZNF9 gene associated with the formation of ribonuclear foci in human skeletal muscle and some non-muscle tissues present in muscle biopsies and skin excisions from myotonic dystrophy type 2 patients. Using RNA-FISH and immunofluorescence-FISH methods in combination with a high-resolution confocal microscopy, we demonstrate a different frequency of nuclei containing the CCUG(exp) foci, a different expression pattern of MBNL1 protein and a different sequestration of MBNL1 by CCUG(exp) repeats in skeletal muscle, vascular smooth muscle and endothelia, Schwann cells, adipocytes, and ectodermal derivatives. The level of CCUG(exp) transcription in epidermal and hair sheath cells is lower compared with that in other tissues examined. We suppose that non-muscle tissues of ...

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Choosing to participate in a study is an important personal decision. Talk with your doctor and family members or friends about deciding to join a study. To learn more about this study, you or your doctor may contact the study research staff using the contacts provided below. For general information, Learn About Clinical Studies. ...

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Retired Navy Lieutenant Laura Root - diagnosed with myotonic dystrophy type 2 (DM2) - talks about her current work with wounded warriors as a Level 3 Shooting Coach and mentor.. Stay tuned for Lauras blog and promotional website featuring the book shes working on: www.AdaptedNation.com. ...

there is a condition that is in my family it was only recognised about 13 years ago after my mothers passing.the doctors here didnt know what it was,my aunt passed with the same thing and if the mother had it all the kids had to be tested to,it is called Myotonic Dystrophy type 2 or proms for short.my cousin passed 2 months ago she was in a wheel chair through it i have got 2 sisters both of them have got it,so their kids were tested one sister has got 3 daughters two have got it ...

Background: Myotonic dystrophy type 1 is caused by an unstable (CTG)n repetition located in the 3′UTR of the DM protein kinase gene (DMPK). Untranslated expanded DMPK transcripts are retained in ribonuclear foci which sequester CUG-binding proteins essential for the maturation of pre-mRNAs.. Aim: To investigate the effects of CTG expansion length on three molecular parameters associated with the DM1 muscle pathology: (1) the expression level of the DMPK gene; (2) the degree of splicing misregulation; and (3) the number of ribonuclear foci.. Methods: Splicing analysis of the IR, MBNL1, c-TNT and CLCN1 genes, RNA-FISH experiments and determination of the DMPK expression on muscle samples from DM1 patients with an expansion below 500 repetitions (n = 6), DM1 patients carrying a mutation above 1000 CTGs (n = 6), and from controls (n = 6).. Results: The level of aberrant splicing of the IR, MBNL1, c-TNT and CLCN1 genes is different between the two groups of DM1 muscle samples and correlates with ...

© 2014. Myotonic dystrophy type 1 (DM1) is an autosomal multisystemic dominant disease caused by the expansion of a CTG triplet repeat within the 3 untranslated region of dystrophy myotonic protein kinase (DMPK) gene on chromosome 19q13.3. The occurrence of a brain involvement is now widely accepted and well-recognized as a common feature in a substantial proportion of DM1 population. Depending of the phenotypic expression, the degree of cognitive impairment remains heterogeneous, ranging from moderate to severe mental retardation, which is characteristic of the congenital form, to executive, visuospatial and personality dysfunction in the adult-onset form. In contrast, studies exploring the cognitive or psychiatric impairments in the childhood DM1 are scarce and show conflicting results in regards to a comorbid diagnosis of Autism Spectrum Disorders (ASD). The objective of this article is to examine, on the basis of previous clinical studies, the plausible co-occurrence of childhood DM1 and ASD by (1

The aim of this study was to explore perceived fatigue, experienced functional limitations due to fatigue and clinical correlates in patients with Myotonic Dystrophy type 1 (DM1). In total, 32 consecutive patients with DM1 (14 women and 18 men) and 30 sex, age and education matched healthy control subjects participated. Perceived fatigue was rated on the Fatigue Impact Scale (FIS). Patients also completed a set of assessments aimed to characterize CTG-repeat size, muscle impairment, depression and cognitive functions. Non-parametric analysis were performed as appropriate, including Mann-Whitney U-test and Spearman correlation test. DM1 patients had higher FIS total score than healthy controls, suggesting higher fatigue levels. More specifically, DM1 patients scored higher on the FIS physical and psychosocial subscales than controls but not on the FIS cognitive scale. Scores on fatigue correlated significantly with muscle impairment and depression. Perceived fatigue is significantly more common in

BACKGROUND: Patients with myotonic dystrophy type 1 (DM1) have a three-fold higher risk of sudden cardiac death (SCD) than age-matched healthy controls. Despite numerous attempts to define the cardiac phenotype and natural history, existing literature suffers from low power, selection-bias and lack of controls. Thus, the optimal strategy for assessing cardiac involvement in DM1 is unclear. METHOD: In this large single-centre study, we evaluated 129 unselected DM1 patients (49.6% men), mean (SD) age 44 (14.7) years with family history, physical examination, electrocardiogram (ECG), echocardiography, Holter-monitoring and muscle strength testing. RESULTS: Cardiac involvement was found in 71 patients (55%) and included: 1) Conduction abnormalities: atrio-ventricular block grade I (AVB grade I) (23.6%), AVB grade II (5.6%), right/left bundle branch block (5.5/3.2%) and prolonged QTc (7.2%); 2) arrhythmias: atrial fibrillation/flutter (4.1%), other supraventricular tachyarrhythmia (7.3%) and ...

BACKGROUND AND PURPOSE: Patients with myotonic dystrophy type 1 (DM1) have an increased incidence of endocrine dysfunction. In this study, the temporal evolution of endocrine dysfunction in patients with DM1 was investigated. METHODS: Endocrine function was assessed in 68 patients with DM1, in whom endocrine function had been followed, on average, for 8 years. The endocrine function was assessed by measuring the concentration of hormones and metabolites in blood and by validating libido with questionnaires. RESULTS: At baseline, 30 of the 68 patients presented with at least one hormonal dysfunction. When re-evaluated after 8 years, 57 of 68 patients had endocrine dysfunction. Diabetic patients had increased from one to four. At follow-up, hyperparathyroidism occurred in 25% and abnormal thyroid-stimulating hormone in 21%, compared with 14% and 9% at baseline. Sixteen of 33 men had increased luteinizing hormone levels compared with seven at baseline. CONCLUSIONS: Our findings show that endocrine ...

Purpose: To investigate the effects of a hand-training programme on grip, pinch and wrist force, manual dexterity and activities of daily living, in adults with myotonic dystrophy type 1 (DM1). Method: In this randomised controlled trial with a crossover design, 35 adults with DM1 were, after stratification for grip force, assigned by lot to two groups. Group A started with 12 weeks of hand training, while group B had no intervention. After a wash-out period of 12 weeks, where none received training, the order was reversed. The Grippit® was used as primary outcome measure and the hand-held Microfet2™ myometer, the Purdue Pegboard, the Canadian Occupational Performance Measure (COPM) and the Assessment of Motor and Process Skills (AMPS) were secondary outcome measures. Assessments were performed before and after training and control periods, i.e. four times altogether. Results: Ten persons dropped out and 13 had acceptable adherence. Intention-to-treat analyses revealed significant ...

This Myotonic support group addresses the needs of the Myotonic Dystrophy Type 2 community. This group was formed to provide space for people with Myotonic Dystrophy Type 2 and their loved ones to share their experiences, stories and support each other.

Introduction. Myotonic dystrophy (DM) is a clinically and genetically heterogeneous disease, with autosomal dominant inheritance, presenting as two major types: myotonic dystrophy type 1 (DM1), the most common type, also known as Steinerts disease, and myotonic dystrophy type 2 (DM2), recognized in 1994 as a milder phenotype of the disease.. DM1 is a multisystemic disease, resulting from an expansion of cytosine, thiamine, and guanine (CTG) trinucleotides in the DMPK gene of chromosome 19q13.3. Its estimated prevalence is 1:20.000 and can be classified as mild, classic, or congenital according to phenotype and number of CTG repeats.1 Mild DM1 is diagnosed between 20 and 70 years of age, presenting with cataracts and mild myotonia, and has a normal life expectancy. Classic DM1 manifests earlier, in the second or third decades of life, and is characterized by general weakness (with distal predominance), myotonia, cataract, and often cardiac conduction abnormalities. These patients have a reduced ...

Our results demonstrate that CUG repeat RNA expression can elicit toxicity in zebrafish embryos. This toxicity manifests with limited CUG RNA foci formation, morphologic abnormalities, early behavioral abnormalities and significant transcriptional changes. Coexpression of MBNL2 with GFP(CUG)91 mRNA suppresses the observed morphologic, behavioral and transcriptional alterations, suggesting a role for MBNL in these phenotypes. Lastly, embryos that survive the initial developmental period during which the expanded CUG repeat RNA is present have seemingly normal late development and motor function, as measured by swim speed at 1 and 31 weeks of age. Our results establish zebrafish as a model system for studying DM1 pathogenesis and provide insights into this disorder and into RNA-mediated toxicity.. One goal of this work was to establish a system for studying early developmental effects of CUG repeat RNA-mediated toxicity. Congenital myotonic dystrophy is associated with qualitatively different ...

Patients with a cardiac irregularity and myotonic dystrophy type 1 (a severe neuromuscular disorder with a high risk of sudden death) who received an invasive treatment strategy that included testing of their hearts electrical conduction system and if needed, implantation of a device such as a pacemaker, had an associated higher rate of 9-year survival compared to patients treated noninvasively, according to a study in the March 28 issue of JAMA.. Myotonic dystrophy type 1 (DM 1) is the most common inherited neuromuscular disease in adults, with an incidence of 1 in 8,000. The manifestations of the disease include muscle weakness, myotonia [abnormally long muscular contractions], multiple endocrine disorders, respiratory insufficiency, and cardiac abnormalities. The prevention of sudden death is central to patient management, according to background information in the article. Progression of conduction system (special muscle fibers that conduct electrical impulses throughout the muscle of the ...

Researchers have determined that two types of myotonic dystrophy, the most common forms of muscular dystrophy in adults, can be caused by a genetic mutation on either chromosome 3 or 19. The mutation in myotonic dystrophy type 1 (DM1) was identified in 1992 as an expansion of a repeat in the DMPK gene on chromosome 19. DMPK codes for a protein kinase that is found in skeletal muscle, where it likely plays a regulatory role.. Now, Laura Ranum, of the University of Minnesota, Minneapolis, and colleagues have revealed that a clinically similar, but genetically distinct type of myotonic dystrophy, DM2, is caused by an expansion of repeat sequence on chromosome 3. Our sequencing data indicate that the expansion is located in intron 1 of the zinc finger protein 9 (ZNF9) gene, the researchers write in the current issue of Science. ZNF9 is also called the cellular nucleic acid-binding protein gene. The location of the DM2 expansion was confirmed by accessing GNNs genomic sequence data for the contig ...

Adults with myotonic dystrophy type 1 and conduction system disease may live longer with an invasive management strategy, new research suggests.

Sellier, Chantal; Cerro-Herreros, Estefania; Blatter, Markus; Freyermuth, Fernande; Gaucherot, Angeline; Ruffenach, Frank; Sarkar, Partha; Puymirat, Jack; Udd, Bjarne; Day, John W.; Meola, Giovanni; Bassez, Guillaume; Fujimura, Harutoshi; Takahashi, Masanori P.; Schoser, Benedikt; Furling, Denis; Artero, Ruben; Allain, Frederic H. T.; Llamusi, Beatriz; Charlet-Berguerand, Nicolas (2018): rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences. In: Nature Communications, Vol. 9, 2009 [PDF, 3MB] ...

Your path to a correct myotonic dystrophy (DM) diagnosis can be long and complex, as medical professionals see these cases so infrequently that they often arent familiar with DM.

Our mission is to improve the quality of life of people living with myotonic dystrophy (DM) and accelerate the search for therapies.

I did what I could to raise my children normally. But my efforts often failed and that was because I just didnt have normal children.. In 1998 my husband and all 4 children (3 boys, 1 girl) were diagnosed with Myotonic Dystrophy (DM). The oldest child was 20 and the youngest was 7.. I spent many years, starting in 1998, learning that DM is more than a muscle disease, it affects the whole body and it affects every individual differently- from the floppy (hypotonic) infant, to their unsuspecting grandparent.. DM is often quite devastating, not only because it affects the functions of so many organs and systems in the human body, but also because many people who have this disease can live with it and go undiagnosed with it for years-some estimates guess that as many as 50% of those with this disease remain undiagnosed.. Instead of being treated for the disease, for which there is still no cure, many of those with DM live on the margins of society, unable to hold down a job and struggling with ...

More than 10,000 served. Over $10,000,000 invested. Learn how your support is helping the Myotonic Dystrophy Foundation deliver on its Care and a Cure promise.

Myotonic dystrophy cannot be completely cured. However, several forms of treatment may be instituted to provide symptomatic relief to patients.

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ZNF493兔多克隆抗体(ab107876)可与人样本反应并经WB实验严格验证，被1篇文献引用。中国75%以上现货，所有产品均提供质保服务，可通过电话、电邮或微信获得本地专属技术支持。

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Results From a total of 582 patients identified, 286 had myotonia congenita, 70 paramyotonia congenita, 23 sodium-channel myotonias, 97 hypokalemic PP, 66 hyperkalemic PP, four normokalemic PP, and 36 Andersen-Tawil syndrome (ATS). 530 patients were from England, giving a point prevalence of 1/100 000. Significant allelic heterogeneity was associated with NDM and ATS. However, a limited number of mutations were responsible for most cases. ...

The Blog. Youve reached this site as you may be the one of nearly one million people affected by Myotonic Dystrophy Worldwide. This site aggregates and publishes all information on Myotonic Dystrophy Myotonic Dystrophy is a disease that is genetically based and inherited from one generation to the next. One out of two children of a person with myotonic dystrophy will most likely have the disease. Unlike most diseases, the symptoms that a person with this disease varies from person to person. Some people are just mildly affected others are severely affected. This makes it hard to tell you exactly how the disease will affect a particular person.. Four treatments that have potential have now surfaced about Myotonic Dystrophy. These are three approved Drugs by FDA and off label use may assist some people with DM1. (As always check with your Doctor) . The other is a drug that is not FDA approved in the USA for human use. Three off label uses have showed promise in mice studies but as yet there is ...

One of the most knowledgeable was Professor Benedikt Schoser. NDM expert and neurology expert at the University of Munich spoke at a general conference of Mensch & Myotonie e.V. about the Friedrich-Baur-Institut planned patient enrollment. Although the experts still know very little about NDM, Schoser said. With the new registry, each patient with NDM will help us learn more about the disease. Who has the symptoms? How much does myotonia limit the daily life of those affected? Who helps with what medications? To date, there is only one drug officially approved for the treatment of myotonia in NDM. Since the beginning of 2019 the Hormosan has distributed it to Germany. My hope is that our members personal experiences and close collaboration with experts such as Professor Schoser will help to further improve medical care, Kowalski concluded. To do this, we all need to pull everything together - especially in rare diseases like NDM. ...

Acute muscle relaxant back pain over counter discount flavoxate master card, generalized myotonia additionally be,may additionally be,can be} induced by tocolytic brokers similar to fenoterol muscle relaxant used by anesthesiologist purchase generic flavoxate on line. Specific forms of myotonia are identified by their mode of inheritance and clinical options spasms tamil meaning purchase flavoxate 200 mg on line, and molecular genetic evaluation spasms all over body order flavoxate australia. Myotonic cataract is found in myotonic dystrophy and proximal myotonic myopathy; slit-lamp examination is indicated in sufferers with these problems. Treatment Membrane-stabilizing medication similar to mexiletine alleviate myotonia; cardiac facet effects} problematic, particularly in myotonic dystrophy. Myopathies Unselective channel Chloride channel Potassium channel Cl- Sodium channel Calcium channel Na+ Ca2+ Extracellular matrix Cell membrane Action myotonia (delayed hand opening after grasping) Ion ...

BACKGROUND: Cardiac involvement is common in myotonic dystrophy (MD) patients. Heart rate variability (HRV) is a simple and reliable technique that can be useful for studying the influence of the autonomic nervous system on the heart. OBJECTIVE: Stud

Nuclear mRNA transport is often thought of in terms of translocation through the nuclear pore, but mRNA export also requires intranuclear progression of transcripts from the gene to the nuclear pore. In some genetic diseases, failed export of a mutant mRNA is critical to the phenotype, yet typically it is not well understood how nuclear export is impeded or whether mutant mRNA accumulates at a specific point within the nuclear structure. In fact, the examination of mRNA blocked at a specific step in export may help illuminate the path whereby mRNA normally transits from the gene to the nuclear pore. The analysis of human disease gene mutations that impact nuclear metabolism of the mRNA provides an avenue to study both disease pathogenesis and the interrelationship between nuclear structure and steps in mRNA biogenesis. In addition, the study of naturally occurring disease alleles in patient cells provides the advantage that the mutant mRNA is expressed in a normal structural and physiological ...

Preliminary research finds that for patients with nondystrophic myotonias (NDMs), rare diseases that affect the skeletal muscle and cause functionally limiting stiffness and pain, use of the anti-arrhythmic medication mexiletine ...

The EMA committee has recommended marketing authorization for the first treatment for adults with nondystrophic myotonia, a group of rare muscle contraction disorders characterized by pain and fatigue.

Asuragen, Inc., a molecular diagnostics company delivering easy-to-use products for complex testing in genetics and oncology, today announced the CE marking and launch of the AmplideX DM1 Dx Kit, which simplifies the analysis of repeat expansions within the DMPK gene and is intended to aid in the diagnosis of Myotonic Dystrophy Type I (DM1), also known as Steinerts Disease.. ...

Read about ISIS Pharmaceuticals receiving $2.8M payment from Biogen to advance dosing study of ISIS-DMPK-2.5 Rx in Myotonic Dystrophy Type I patients.

We have identified the genetic cause of several neuromuscular disorders, most notably myotonic dystrophy type 2, which we continue to study to advance understanding of all forms of myotonic dystrophy. We have also contributed to genetic understanding of Duchenne muscular dystrophy, and other muscle and ataxic disorders. We are continuing to investigate the epigenetic and molecular consequences of these diseases through investigation of patient-derived specimens.. ...

transcripts sequester RNA-binding proteins, leading to mis-splicing of numerous pre-mRNAs. Here, we have investigated whether DM1-associated muscle pathology is related to deregulation of central metabolic pathways, which may identify potential therapeutic targets for the disease. In a well-characterized mouse model for DM1 (HSALR mice), activation of AMPK signaling in muscle was impaired under starved conditions, while mTORC1 signaling remained active. In parallel, autophagic flux was perturbed in HSALR muscle and in cultured human DM1 myotubes. Pharmacological approaches targeting AMPK/mTORC1 signaling greatly ameliorated muscle function in HSALR mice. AICAR, an AMPK activator, led to a strong reduction of myotonia, which was accompanied by partial correction of misregulated alternative splicing. Rapamycin, an mTORC1 inhibitor, improved muscle relaxation and increased muscle force in HSALR mice without affecting splicing. These findings highlight the involvement of AMPK/mTORC1 deregulation in ...

Myotonic dystrophy type 1 (DM1) is caused by the expansion of CUG repeats in the 3 UTR of DMPK transcripts. DM1 pathogenesis has been attributed in part to alternative splicing dysregulation via elevation of CUG-BP, Elav-like family member 1 (CELF1). Several therapeutic approaches have been tested in cells and mice, but no previous studies had specifically targeted CELF1. Here, we show that repressing CELF activity rescues CELF-dependent alternative splicing in cell culture and transgenic mouse models of DM1. CELF-independent splicing, however, remained dysregulated. These data highlight both the potential and limitations of targeting CELF1 for the treatment of DM1.. ...

Biogen Idec started the year with a $299 million deal to develop a new antisense drug for rare instances of spinal muscular dystrophy with Isis. And now the big biotech is coming back from the deal table with a new pact that pairs them with Isis once again on another rare disease program, this time for myotonic dystrophy Type 1, a genetic neuromuscular ailment sometimes called Steinert disease.

Lecture presented by Chris W. Höweler M.D. of the University of Maastricht at the yearly meeting organised in October 1997 by the Werkgroep Myotone Dystrofie (Myotonieën) for patients and other people involved in myotonic dystrophy.. Myotonic Dystrophy (MD) is a muscle-dystrophy, which also causes disorders in other organ systems. So symptoms as cataract, irregular heart-beat, pneumonia or bowel troubles appear. The VSN-handbook for muscle diseases gives at page 32 a summary of the organ disorders. These disorders vary among patients and luckily not all of them appear simultaneously in one patient. Sometimes organ disorders end up in dangerous complications, particularly this is the case with irregular heart-beat and pneumonia. If timely detected medical treatment is often effective.. Although the heart is a kind of a muscle, weakness of the heart muscle and narrowing of the coronary arteries seldom occur with MD. Heart problems with MD are almost always initiated by irregular heart-beat, as ...

I can tell you from my experience that the mental/cognitive effects are as devastating as the physical effects (and the physical effects are extensive from swallowing, pneumonia, weak hand movement, unstable walking, to the heart quitting). The point that I am trying to make is that many people compliment me and tell me what a wonderful mother I am. The reason that I share my experiences isnt to brag about myself, I am trying to make a point that those with myotonic dystrophy are affected in both body muscles and their mind. So, I am only doing what needs to be done.. ...

Grip myotonia - ask the patient to repeatedly grip and release your fingers, watching for initial muscle stiffness followed by relaxation with repeated ...