Through this study, we provide useful clinical information about pregnancies complicated by congenital myotonic dystrophy, which is a rare, but clinically serious disease entity for both obstetricians and pediatricians. Our data showed that severe polyhydramnios and decreased fetal movement were distinct characteristics of pregnancies complicated by congenital myotonic dystrophy. In detail, severe idiopathic polyhydramnios was presented in 66.7% of the cases, with median amniotic fluid index of 43 and median detection time at approximately 30 weeks of gestation. These results are similar to those of other studies stating that 77% to 78% of polyhydramnios cases during late 2nd and early 3rd trimester were observed in pregnancies affected by congenital myotonic dystrophy [1314]. Polyhydramnios in affected pregnancies is considered a consequence of decreased or absent fetal swallowing [15]. Decreased fetal movements as a result of reduced muscle tone and polyhydramnios were also notable findings in ...

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FDA Grants Rare Pediatric Disease Designation to AMO Pharma for AMO-02 for Treatment of Congenital Myotonic Dystrophy - read this article along with other careers information, tips and advice on BioSpace

(2005) Del Carratore et al. Biochimica et Biophysica Acta - Molecular Cell Research. Human myotonic dystrophy protein kinase (DMPK), the product of the myotonic dystrophy (DM) locus, is a member of a novel class of multidomain serine-threonine protein kinases, which interacts with members of the ...

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 ...

The DMPK gene of severely affected myotonic dystrophy patients is hypermethylated proximal to the largely expanded CTG repeat.: Using methylation-sensitive rest

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http://en.wikibooks.org/wiki/Exercise_as_it_relates_to_Disease == Background == Myotonic Dystrophy is the most common form of Muscular Dystrophy. Characterized by wasting of the muscles and muscle weakness, Myotonic Dystrophy is a genetic disorder that affects approximately 1 in 8000 people worldwide . Myotonic Dystrophy differs from other forms of muscular dystrophies as it is associated with a number of other disorders including myotonia (delayed relaxation of muscles after contraction), endocrine changes , cataracts and heart conduction defects. There are two forms of myotonic dystrophy, including DM1 (type 1) and DM2 (type 2), both inherited but affecting a different gene.. === Symptoms . === Symptoms may occur from birth onwards but as the disease is slow progressing, it isnt usually till adulthood until signs are present. One of the first signs of myotonic dystrophy is muscle stiffness caused from myotonia. Other symptoms may include heart problems, breathing troubles, difficulty ...

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 ...

Myotonin-protein kinase (MT-PK) also known as myotonic dystrophy protein kinase (MDPK) or dystrophia myotonica protein kinase (DMK) is an enzyme that in humans is encoded by the DMPK gene. The dmpk gene product is a Ser/Thr protein kinase homologous to the MRCK p21-activated kinases and the Rho family of kinases. Data obtained by using antibodies that detect specific isoforms of DMPK indicate that the most abundant isoform of DMPK is an 80-kDa protein expressed almost exclusively in smooth, skeletal, and cardiac muscles. This kinase exists both as a membrane-associated and as a soluble form in human left ventricular samples. The different C termini of DMPK that arise from alternative splicing determine its localization to the endoplasmic reticulum, mitochondria, or cytosol in transfected COS-1 cells. Among the substrates for DMPK proposed by in vitro studies are phospholemman, the dihydropyridine receptor, and the myosin phosphatase targeting subunit. However, an in vivo demonstration of the ...

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

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 ...

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 ...

Myotonic dystrophy (Steinerts disease) is an autosomal dominantly inherited disease characterised by progressive muscle weakness and myotonia. Although classified as a muscle disease, myotonic dystrophy is a multisystem disorder with a varying degree of internal, cardiac, and ophthalmic pathology.1 Myotonic dystrophy can be divided into three types based on the time of onset, the clinical features, and the number of CTG repeats in DNA.2-4 The disease is more severe and more progressive when maternally inherited, when the DNA repeats have greater length, and when it is of congenital or early onset. Congenital and juvenile onset myotonic dystrophy (1 to 12 years) is characterised by mental retardation, muscle weakness, multisystem pathology, rapid progression, and oral and maxillofacial manifestations.1,5-8 In adult onset myotonic dystrophy (12 to 50 years), muscle signs and myotonia predominate. Adult onset myotonic dystrophy also involves mental slowness but is mildly progressive and the ...

Myotonic dystrophy type 1 is an autosomal dominant disorder characterized by muscle weakness, myotonia, cataracts, and cardiac conduction defects; it is associated with expansions of cytosine-thymine-guanine repeats in the myotonic dystrophy protein kinase. Hypogammaglobulinemia is a lesser known association of myotonic dystrophy type 1 and the underlying pathogenesis of immunoglobulin G depletion remains unclear. Here we report a kindred of two members (a 62-year-old white woman and a 30-year-old white man; mother and son) with myotonic dystrophy type 1-associated hypogammaglobulinemia associated with altered intravenous immunoglobulin elimination kinetics and reduced half-life. There was no history of systemic immunosuppression or renal or gastrointestinal protein loss in either patient, and no underlying case for a secondary immunodeficiency could be found. One patient required fortnightly intravenous immunoglobulin to maintain adequate trough immunoglobulin G levels. Ongoing study of myotonic

Catalytic domain of Myotonic Dystrophy protein kinase-like Protein Serine/Threonine Kinases. Serine/Threonine Kinases (STKs), Myotonic Dystrophy protein kinase (DMPK)-like subfamily, catalytic (c) domain. STKs catalyze the transfer of the gamma-phosphoryl group from ATP to serine/threonine residues on protein substrates. The DMPK-like subfamily is part of a larger superfamily that includes the catalytic domains of other protein STKs, protein tyrosine kinases, RIO kinases, aminoglycoside phosphotransferase, choline kinase, and phosphoinositide 3-kinase. The DMPK-like subfamily is composed of DMPK and DMPK-related cell division control protein 42 (Cdc42) binding kinase (MRCK). Three isoforms of MRCK are known, named alpha, beta and gamma. The DMPK gene is implicated in myotonic dystrophy 1 (DM1), an inherited multisystemic disorder with symptoms that include muscle hyperexcitability, progressive muscle weakness and wasting, cataract development, testicular atrophy, and cardiac conduction defects. ...

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 ...

The most common type of DM is called DM1, which is caused by a mutation in a gene called myotonic dystrophy protein kinase (DMPK). The DMPK gene is located on chromosome 19. The specific mutation that causes DM1 is called a trinucleotide repeat expansion. In people who have DM1, a particular unit of the gene is repeated too many times-more than the normal range of five to 38 times-and thus this section of the gene is too big and is unstable. The enlarged section of the gene is called a trinucleotide repeat expansion. People who have repeat numbers in the normal range will not develop DM1 and cannot pass it to their children. Having more than 50 repeats causes DM1. People who have 38-49 repeats have what is called a premutation. They do not develop DM1, but can pass DM1 on to their children. Myotonic dystrophy has an effect called anticipation. This means that when a person with repeat numbers in the affected or premutation range (above 38) has children, the expansion grows larger, and the ...

The mutation associated with myotonic dystrophy (DM) is the expansion of an unstable trinucleotide repeat, (CTG)n, in the 3-untranslated region of the myotonin protein kinase gene. Although expanded repeats show both germline and somatic instability, the mechanisms of the instability are poorly understood. To establish a model system in which somatic instability of the DM repeat could be studied in more detail, we established lymphoblastoid cell lines (LBCL) from DM patients. Analysis of the DNA from DM LBCL using Southern blotting showed that the (CTG)nrepeats were apparently stable up to 29 passages in culture. To study infrequent repeat size mutations that are undetectable due to the size heterogeneity, we established LBCL of single-cell origins by cloning using multiple steps of limiting dilution. After expansion to approximately 106cells (equivalent to approximately 20 cell cycles), the DNAs of these cell lines were analyzed by the small pool PCR technique using primers flanking the ...

A Different Diagnosis: Does This Mean I Have Myotonic Dystrophy? Just because myotonic dystrophy patients experience somnolence does not mean that IH patients have myotonic dystrophy. The somnolence and excessive sleep common to both IH and DM1 could lead one to refer to one disease as a phenocopy of the other. Phenocopy is a term used to refer to a disease whose pattern of symptoms resembles that of another disease entity that has otherwise been given a unique name (which carries with it a presumption that it results from a different cause).. Alternatively, when patterns of sleep are similar, it is possible that the causes share something in common. A phenocopy can be very helpful to researchers in search of a cause to their disease of interest. In the case of idiopathic hypersomnia, whose cause remains unknown, a disease with similar symptoms, such as DM1, can provide valuable clues as to what ultimately causes IH. Consider the following example:. Sarah and John both own car washes. ...

Since our founding in 2007, Myotonic Dystrophy Foundation advocates have been educating Congress on the need for increased myotonic dystrophy research funding, working with the Social Security Administration to eliminate red tape for individuals with congenital myotonic dystrophy, and leading initiatives with the U.S. Food and Drug Administration to accelerate drug development

TY - JOUR. T1 - Clinical predictors of conduction disease progression in type I myotonic muscular dystrophy. AU - Nazarian, Saman. AU - Wagner, Kathryn R.. AU - Caffo, Brian S.. AU - Tomaselli, Gordon F.. PY - 2011/2/1. Y1 - 2011/2/1. N2 - Background: Patients with type I myotonic muscular dystrophy (DM1) are at risk for sudden death due to atrioventricular conduction block. We sought to characterize the trends and predictors of time-dependent electrocardiographic (ECG) variations in patients with DM1. Methods: Seventy patients with DM1 underwent standard electrocardiography at first evaluation and routine and symptom prompted follow-up. Individual variations in ECG conduction intervals were assessed using spaghetti plots. Clinical predictors of conduction disease progression were assessed using multivariate random effects regression models of panel data clustered by patient and adjusted for heart rate. Results: Substantial individual variability was noted in time-dependent changes in PR, QRS, ...

Materials and Methods :. Subjects:. Adult ambulatory patients (18 years of age and older) with a clinical diagnosis of myotonic dystrophy type I were investigated prospectively as part of routine follow-up, from april 2008 to june 2010. Patients were clinically evaluated in the department of Internal Medicine and lung function was assessed in the department of Pulmonary Function Testing, both from the University Hospital of Nancy. Pulmonary tests were ordered for clinical indications, not part of a study protocol. The supine evaluation was added of the conventional lung function testing. All individual were examined and categorized according to a standardized five-point muscular-impairment rating scale, in which a score of 1 indicates no muscular impairment, 2 minimal signs without distal weakness except for digit flexors, 3 distal weakness without proximal weakness except for elbow extensors, 4 moderate proximal weakness, and 5 severe weakness (MIRS).. Lung and respiratory muscle ...

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 ...

TY - JOUR. T1 - Effect of myotonic dystrophy trinucleotide repeat expansion on dmpk transcription and processing. AU - Krahe, Ralf. AU - Ashizawa, Tetsuo. AU - Abbruzzese, Claudia. AU - Roeder, Elizabeth. AU - Carango, Paul. AU - Giacanelli, Manlio. AU - Funanage, Vicky L.. AU - Siciliano, Michael J.. N1 - Copyright: Copyright 2017 Elsevier B.V., All rights reserved.. PY - 1995/7/1. Y1 - 1995/7/1. N2 - The myotonic dystrophy (DM) mutation has been identified as an unstable, expanded (CTG)n repeat in the 3′ untranslated region of a gene designated DM protein kinase (DMPK). Both decreased and increased levels of mutant DMPK mRNA as well as decreased levels of protein have been variously reported and invoked to explain disparate molecular bases of this dominantly inherited disease. Most recently, increased nucleosome binding to such expanded repeats has been interpreted as support for transcriptional repression. A quantitative allele-specific RT-PCR procedure was developed and applied to a ...

The mutation underlying myotonic dystrophy is the expansion of polymorphic CTG repeat in the 3-noncoding region of the myotonin protein kinase (MtPK) gene mapping to chromosome 19q13.3. A full-length cDNA of human MtPK was cloned and expressed in COS-1 cells. We purified native full-length MtPK from rat skeletal muscle. This 70 kDa MtPK is localized in sarcoplasmic reticulum fraction, whereas the previously reported 55 kDa protein was observed in nuclear extract or the sarcoplasmic reticulum membrane. Based on the cDNA sequence, human MtPK was previously reported to have two amino acid sequence variations at the C-terminus, one GAARAP (RAP type) and PALPEP (PEP type). The MtPK purified appeared to be almost entirely RAP type. Stable expression of MtPK in mouse C2C12 cells caused the activation of chloride efflux. Expansion of CTG repeats suppressed myogenic differentiation. Collectively, the results indicate that prolonged MtPK activation provides a link between intracellular signal transduction

Myotonic dystrophy (DM) type 1 is associated with an expansion of (|50) CTG repeats within the 3 untranslated region (UTR) of the dystrophin myotonin protein kinase gene (dmpk). In the corresponding mRNA transcript, the CUG repeats form an extended stem-loop structure. The double-stranded RNA of the stem sequesters RNA binding proteins away from their normal cellular targets resulting in aberrant transcription, alternative splicing patterns, or both, thereby leading to DM. To better understand the structural basis of DM type 1, we determined to 1.58-A resolution the x-ray crystal structure of an 18-bp RNA containing six CUG repeats. The CUG repeats form antiparallel double-stranded helices that stack end-on-end in the crystal to form infinite, pseudocontinuous helices similar to the long CUG stem loops formed by the expanded CUG repeats in DM type 1. The CUG helix is very similar in structure to A-form RNA with the exception of the unique U-U mismatches. This structure provides a high-resolution view

AMO Pharma has been conducting a Phase 2a clinical trial of Tideglusib (also known as AMO-02) for adolescents and adults with congenital myotonic dystrophy. Tideglusib is an antagonist for GSK3β, a cell signaling molecule thought to play a role in the pathogenesis of myotonic dystrophy. The AMO clinical trial is a single-blind study of 400 mg and 1000 mg doses of Tideglusib; single-blind means that those conducting the trial know the dose that each patient received and there was no placebo control included in the study. The study is being conducted at Newcastle University.. AMO recently reported interim data from the first cohort of 8 patients who received the 1000 mg dose of Tideglusib. Small, Phase 2a studies such as this are informative as to whether the candidate therapeutic is safe and well-tolerated. AMO reported that no trial subjects withdrew from the study as a result of adverse events or other issues.. Phase 2a studies also are used as a pilot to determine proof of the scientific ...

Myotonic Dystrophy (DM) a multi-systemic disorder, is the most common adult muscular dystrophy form. Among the pathological manifestations observed in the skeletal musculature include non-muscle defects as insulin resistance. Aberrant regulation has postulated involvement in the disease progression of DM1 specific insulin resistance characteristic of the disorder. RNA binding proteins involved in alternative splicing affect inclusion of spliced exons by binding to sequence specific cis-acting elements in pre-mRNA. The MBNL as well as the CELF class of proteins regulate alternative splicing of pre-mRNA insulin receptor (IR) by working antagonistically as a result of their distinct pre-mRNA binding sites. Of the two isoforms of insulin receptor (IR), the expression of the B isoform is affected to yield the non-muscle, low signaling isoform A. Here attempts are made to demonstrate a relationship between the muscleblind proteins and alternatively spliced insulin receptor by which protein-RNA binding ...

Myotonic Dystrophy (DM) a multi-systemic disorder, is the most common adult muscular dystrophy form. Among the pathological manifestations observed in the skeletal musculature include non-muscle defects as insulin resistance. Aberrant regulation has postulated involvement in the disease progression of DM1 specific insulin resistance characteristic of the disorder. RNA binding proteins involved in alternative splicing affect inclusion of spliced exons by binding to sequence specific cis-acting elements in pre-mRNA. The MBNL as well as the CELF class of proteins regulate alternative splicing of pre-mRNA insulin receptor (IR) by working antagonistically as a result of their distinct pre-mRNA binding sites. Of the two isoforms of insulin receptor (IR), the expression of the B isoform is affected to yield the non-muscle, low signaling isoform A. Here attempts are made to demonstrate a relationship between the muscleblind proteins and alternatively spliced insulin receptor by which protein-RNA binding ...

The personal essay below was written by Alex Wiggans, grandson of MDF community members Dr. Glen Wiggans and Marlo Wiggans.. Have you ever heard of a disease called myotonic dystrophy? Most likely not, although you probably have heard of muscular dystrophy. You might have even donated money to the Muscular Dystrophy Association and written your name on a shamrock. Myotonic dystrophy is a form of muscular dystrophy, but it is rare and not well-researched. It is a disease that few will know about. But I have to watch it take its course every day. The biggest barrier that will have a lasting impression on me is myotonic dystrophy. My father is afflicted with this horrific disease. The disease causes muscle deterioration, heart problems, breathing problems, loss of balance, personality changes, extreme fatigue, and digestive issues. My family has to work together as a team, be committed to each other, and have the courage to believe.. My family has to work together as a team to overcome barriers ...

© 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

TY - JOUR. T1 - The syntenic relationship of proximal mouse chromosome 7 and the myotonic dystrophy gene region on human chromosome 19q. AU - Saunders, Ann M.. AU - Seldin, Michael F. PY - 1990. Y1 - 1990. N2 - The syntenic relationship of the myotonic dystrophy (DM) gene region on human chromosome 19q and proximal mouse chromosome 7 was examined using an interspecific backcross between C3H/HeJ- gld gld mice and Mus spretus. Segregation analyses were used to order homologs of nine human loci linked were the DM gene. Their order from the centromere was Prkcg, [Apoe, Atpa-2, Ckmm, D19S19h, Ercc-2], Cyp2b, Mag. Lhb. Two other murine loci, D7Rp2 and Ngfg, were also positioned within this interval. Homologs for five human chromosome 11 and 15 loci (Calc, Fes, Hras-1, Igflr, Tyr) were localized within an 18-cM span telomeric to Lhb. Comparison of the gene orders indicates an inversion extending from Prkcg through the interval between Mag and Lhb. This study establishes a detailed map of proximal mouse ...

Looking for myotonic dystrophy? Find out information about myotonic dystrophy. A hereditary disease, transmitted as an autosomal dominant, characterized by lack of normal relaxation of muscles after contraction, slowly progressive... Explanation of myotonic dystrophy

Somatic mosaicism of the expanded CTG repeat in myotonic dystrophy type 1 is age-dependent, tissuespecific and expansion-biased, contributing toward the tissue-specificity and progressive nature of the symptoms. Previously, using regression modelling of repeat instability we showed that variation in the rate of somatic expansion in blood DNA contributes toward variation in age of onset, directly implicating somatic expansion in the disease pathway. Here, we confirm these results using a larger more genetically homogenous Costa Rican DM1 cohort (p , 0.001). Interestingly, we also provide evidence that supports subtle sex-dependent differences in repeat length-dependent age at onset and somatic mutational dynamics. Previously, we demonstrated that variation in the rate of somatic expansion was a heritable quantitative trait. Given the important role that DNA mismatch repair genes play in mediating expansions in mouse models, we tested for modifier gene effects with 13 DNA mismatch gene ...

Background: Heart failure is associated with elongation of cardiomyocytes and loss of sarcomeres. Although the transcription factor myocyte enhancer factor-2 (MEF2) has an important role in this adverse remodeling, the mechanism underlying the structural changes of cardiomyocytes remains to be elucidated. In a screen for MEF2 target genes, we have recently identified myotonic dystrophy protein kinase (DMPK) as a potential mediator of adverse cardiomyocyte remodeling. However, it remains to be determined whether DMPK levels are increased in failing hearts and if DMPK is sufficient to induce structural remodeling of cardiomyocytes.. Methods and Results: Since the DMPK gene is subject to extensive alternative splicing, we performed RT-PCR and QPCR analysis of known DMPK splice variants in hearts from mice subjected to transverse aortic constriction (TAC) or sham surgery. This demonstrated a 1.6 fold increase in the DMPK E isoform in failing mouse hearts compared to controls (P,0.05). To test the ...

Patients with myotonic dystrophy frequently suffer from excess daytime sleepiness, which can be a significant cause of disability. Previous studies have indicated that this excess daytime sleepiness is only occasionally due to obstructive sleep apnoea and may be principally of central nervous system origin. Modafinil has been successfully used to treat narcolepsy, a central disorder causing excess daytime sleepiness. We have investigated the use of this drug in myotonic dystrophy patients with excess daytime sleepiness. Patients were recruited from a clinic population on the basis of screening with the Epworth Sleepiness Scale. Patients scoring 10 and above were invited to participate in a randomized double-blind crossover trial of modafinil versus placebo, with four weeks in each arm of the study separated by a 2-week washout period. Patients were assessed by polysomnography at baseline. The primary outcome measures were change in both the Epworth Sleepiness Scale and a modified Maintenance of

Patients with myotonic dystrophy frequently suffer from excess daytime sleepiness, which can be a significant cause of disability. Previous studies have indicated that this excess daytime sleepiness is only occasionally due to obstructive sleep apnoea and may be principally of central nervous system origin. Modafinil has been successfully used to treat narcolepsy, a central disorder causing excess daytime sleepiness. We have investigated the use of this drug in myotonic dystrophy patients with excess daytime sleepiness. Patients were recruited from a clinic population on the basis of screening with the Epworth Sleepiness Scale. Patients scoring 10 and above were invited to participate in a randomized double-blind crossover trial of modafinil versus placebo, with four weeks in each arm of the study separated by a 2-week washout period. Patients were assessed by polysomnography at baseline. The primary outcome measures were change in both the Epworth Sleepiness Scale and a modified Maintenance of

TY - JOUR. T1 - Aberrant Expression of a Non-muscle RBFOX2 Isoform Triggers Cardiac Conduction Defects in Myotonic Dystrophy. AU - Misra, Chaitali. AU - Bangru, Sushant. AU - Lin, Feikai. AU - Lam, Kin. AU - Koenig, Sara N.. AU - Lubbers, Ellen R.. AU - Hedhli, Jamila. AU - Murphy, Nathaniel P.. AU - Parker, Darren J.. AU - Dobrucki, Lawrence W.. AU - Cooper, Thomas A.. AU - Tajkhorshid, Emad. AU - Mohler, Peter J.. AU - Kalsotra, Auinash. PY - 2020/3/23. Y1 - 2020/3/23. N2 - Myotonic dystrophy type 1 (DM1) is a multisystemic genetic disorder caused by the CTG repeat expansion in the 3′-untranslated region of DMPK gene. Heart dysfunctions occur in ∼80% of DM1 patients and are the second leading cause of DM1-related deaths. Herein, we report that upregulation of a non-muscle splice isoform of RNA-binding protein RBFOX2 in DM1 heart tissue-due to altered splicing factor and microRNA activities-induces cardiac conduction defects in DM1 individuals. Mice engineered to express the non-muscle ...

Myotonic Dystrophy is a multi-system disease, which can initially present with symptoms of ptosis, ophthalmoplegia, extraocular myotonia, and decreased visual acuity. Myotonic Dystrophy is a tri-nucleotide repeat, autosomal dominant disease characterized by an inability to relax (myotonia) and muscle wasting (muscular dystrophy). In addition to the myotonia and muscular dystrophy, Myotonic Dystrophy 1 is a debilitating multi-system disease having affects on the eye, pulmonary, cardiac, endocrine, and central nervous system. Respiratory failure is the leading cause of death in theses patients, responsible for 30% of mortalities. Cardiac conduction abnormalities are the second leading cause of death at approximately 20% of mortalities.

Research on the genetic defect that causes myotonic muscular dystrophy has revealed that the mutation disrupts an array of metabolic pathways in muscle cells through its effects on two key proteins. A study published in Nature Structural & Molecular Biology shows that the loss of a single protein accounts for most of the molecular abnormalities associated with the disease, while loss of a second protein also seems to play an important role.. Each of the affected proteins interacts with an array of genes that are active in muscle cells and other tissues, said coauthor Manuel Ares, professor of molecular, cell, and developmental biology at the University of California, Santa Cruz. The study reveals a cascading sequence of molecular events in which a mutation in one gene ends up affecting hundreds of other genes and the physiological processes that depend on them.. This is a genetic disease in which there isnt just one gene that is affected, Ares said. Our hope is that by chasing down more of ...

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 ...

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 ...

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

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.

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 ...

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 is an inherited type of muscular dystrophy that affects the muscles and other body systems. People who have myotonic dystrophy have muscle wasting and weakness in their lower legs, hands, neck and face that get worse over time. Signs and symptoms of myotonic dystrophy usually develop when a person is in his or her twenties or thirties. The severity of myotonic dystrophy varies widely among those who have it, even among family members.. The weakness and muscle wasting that occurs slowly progress to the point of disability. Usually, disability does not become severe until fifteen to twenty years after the symptoms appear. The progression of muscle weakness is slower and is less serious in people who are older when the muscle weakness is first noticed.. There are two types of myotonic dystrophy: Type 1 and Type 2. The two types are caused by alterations (mutations) in two different genes. The symptoms of Type 2 myotonic dystrophy are usually milder than those of Type 1. A severe ...

When a patient with mitral valve prolapse was found to have myotonic dystrophy, his family was studied to ascertain the occurrence of these abnormalities. Of 25 relatives screened, 8 had evidence of both myotonic dystrophy and mitral valve prolapse and 2 had evidence of myotonic dystrophy alone. Thirteen patients had evidence of neither condition and 1 had mitral valve prolapse alone. The association of these two conditions within a family has not previously been observed and valvular heart disease has not been recognized in myotonic dystrophy. This association should be looked for in other patients. ...

Trinucleotide repeat expansions are responsible for more than two dozens severe neurological disorders in humans. A double-strand break between two short CAG/CTG trinucleotide repeats was formerly shown to induce a high frequency of repeat contractions in yeast. Here, using a dedicated TALEN, we show that induction of a double-strand break into a CAG/ CTG trinucleotide repeat in heterozygous yeast diploid cells results in gene conversion of the repeat tract with near 100% efficacy, deleting the repeat tract. Induction of the same TALEN in homozygous yeast diploids leads to contractions of both repeats to a final length of 3-13 triplets, with 100% efficacy in cells that survived the double-strand breaks. Whole-genome sequencing of surviving yeast cells shows that the TALEN does not increase mutation rate. No other CAG/CTG repeat of the yeast genome showed any length alteration or mutation. No large genomic rearrangement such as aneuploidy, segmental duplication or translocation was detected. It is the

Myotonic dystrophy type 1 (DM1) is the most common disease that can cause muscle weakness and atrophy among adults. Normal pressure hydrocephalus (NPH) is characterized by the triad of gait disturbance, cognitive impairment and urinary incontinence. The association between DM1 and NPH is extremely rare. We report a Chinese female patient with DM1 in association with NPH. The patient presented with a history of 3-year of walking instability and cognitive impairment. Her brain MRI showed ventriculomegaly with normal cerebrospinal fluid (CSF) pressure and the CSF tap-test was positive, which indicated the diagnosis of probable NPH. DM1 was confirmed by genetic testing. Four patients with DM1-NPH association were found before. The association between NPH and DM1 may not be just a coincidence, NPH may occur in DM1 later in life and it is vital to recognize the association as a shunt surgery may improve patients quality of life.

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: The strongest genetic association of Fuchs endothelial corneal dystrophy (FECD) is with an expanded trinucleotide repeat (CTG·CAG) in an intron of the TCF4 gene. The same expanded repeat sequence in the 3UTR of the DMPK gene causes Myotonic Dystrophy type 1 (DM1) via a RNA toxicity mechanism. In DM1, poly(CUG) transcripts accumulate in foci and sequester the splicing factor MBNL1, causing missplicing of essential transcripts in skeletal muscle. Our hypothesis is that the same molecular mechanism causes RNA toxicity in the corneal endothelium of FECD patients. Because FECD patients do not present signs or symptoms of DM1, we also ask whether the molecular signature of RNA toxicity is present in muscle cells derived from FECD patients.. Methods: Corneal endothelial tissue was obtained at the time of endothelial keratoplasty, and skin fibroblasts were derived from skin biopsy specimens from patients with FECD. Using fluorescence in situ hybridization (FISH), protein-RNA aggregates can be ...

Myotonic dystrophy (DM) and facioscapulohumeral muscular dystrophy (FSHD) are inherited disorders characterized by progressive muscle weakness and loss of muscle tissue. The purpose of this registry is to connect people with DM or FSHD with researchers studying these diseases. The registry will offer individuals with DM and FSHD an opportunity to participate in research that focuses of their diseases. The registry will also help scientists to accomplish research on DM and FSHD and to distribute their findings to patients and care providers ...

TY - JOUR. T1 - Stargardt-like macular dystrophy protein ELOVL4 exerts a dominant negative effect by recruiting wild-type protein into aggresomes. AU - Vasireddy, Vidyullatha. AU - Vijayasarathy, Camasamudram. AU - Huang, Jibiao. AU - Wang, Xiaofei F.. AU - Jablonski, Monica M.. AU - Petty, Howard R.. AU - Sieving, Paul A.. AU - Ayyagari, Radha. PY - 2005/8/30. Y1 - 2005/8/30. N2 - Purpose: Mutations in the gene Elongation of very long-chain fatty acids-4 (ELOVL4) have been shown to be associated with autosomal dominant Stargardt-like macular dystrophy (STGD3). ELOVL4 is expressed in photoreceptors and encodes a putative transmembrane protein of 314 amino acids with an endoplasmic reticulum (ER) retention signal. A 5 bp deletion in exon 6 of ELOVL4 observed in some STGD3 patients results in the truncation of the protein and loss of the ER retention signal. To understand the disease mechanism underlying STGD3 we studied the intracellular trafficking of the wild-type and a 5 bp deletion mutant of ...

Myotonic Dystrophy type 1 (DM1) is an inherited disease seen as a IL18BP antibody the shortcoming to relax contracted muscles. concentrations (nanomolar) in comparison to its make use of as an over-all transcription PF-04691502 inhibitor or chemotherapeutic. ActD also considerably reversed DM1-linked splicing defects within a DM1 mouse model and do so inside the presently approved individual treatment range. RNA-seq analyses showed that low PF-04691502 concentrations of ActD didnt inhibit transcription within a DM1 PF-04691502 mouse super model tiffany livingston globally. These total results indicate that transcription inhibition of CTG expansions is a PF-04691502 appealing remedy approach for DM1. Launch Myotonic dystrophy (DM) the most frequent type of adult starting point muscular dystrophy is normally an illness seen as a (however not limited by) myotonia muscles wasting insulin level of resistance cardiomyopathy and cognitive dysfunctions (Ranum et al. 2006 Cho et al. 2007 DM provides two ...

TY - JOUR. T1 - Clarification on Uveal Melanoma Associated With Myotonic Dystrophy. AU - Silvestri, Gabriella. AU - Rossi, Salvatore. AU - Perna, Alessia. PY - 2018/12/1. Y1 - 2018/12/1. UR - http://www.scopus.com/inward/record.url?scp=85058604748&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=85058604748&partnerID=8YFLogxK. U2 - 10.1001/jamaophthalmol.2018.4056. DO - 10.1001/jamaophthalmol.2018.4056. M3 - Article. C2 - 30193333. VL - 136. SP - 1426. EP - 1427. JO - JAMA Ophthalmology. JF - JAMA Ophthalmology. SN - 2168-6165. IS - 12. ER - ...

Defects in DNA replication, repair and recombination cause microsatellite expansions in DM1 and DM2 (Lopez Castel et al, 2010; Mirkin, 2007). Both the DMPK and CNBP genes are broadly expressed and microsatellite C(C)TG expansions are dynamic, tend to increase with age and show a high degree of somatic mosaicism (Higham et al, 2012; Morales et al, 2012). Because different tissues, and even individual cells within tissues, contain different repeat lengths and varying degrees of pathology, the development of animal models that faithfully recapitulate the consequences of these microsatellite expansions has been exceptionally challenging.. Transgenic poly(CUG) mouse models have provided key insights into the DM pathogenic mechanism (Sicot & Gomes-Pereira, 2013). For example, HSALR transgenic mice, which express an expanded (CUG)∼220 repeat only in skeletal muscles, develop multiple DM-like muscle abnormalities, including myotonia, fibre size variability, split fibres and centralized myonuclei ...

Charles Thornton, a professor of neurology at the University of Rochester (N.Y.), has received MDA support for research in myotonic muscular dystrophy (MMD, also known as DM) and other neuromuscular diseases. Hes currently developingantisense oligonucleotides and small molecules for MMD. Thornton also co-directs the MDA clinic and directs the MDA/ALS Center at the University of Rochester Medical Center.

The goal of this study is to confirm the genetic status of Registry members with suspected FSHD. Genetic testing (DNA testing) by a blood draw can determine whether a patient has FSHD1, FSHD2, or neither. Clinical trials for FSHD often require patients to have had a genetically confirmed FSHD to participate. This study will increase the number of Registry members able to participate in future clinical trials ...

Per the NIH website: The National Institutes of Health (NIH), a part of the U.S. Department of Health and Human Services, is the primary Federal agency for conducting and supporting medical research. Helping to lead the way toward important medical discoveries that improve peoples health and save lives, NIH scientists investigate ways to prevent disease as well as the causes, treatments, and even cures for common and rare diseases. Composed of 27 Institutes and Centers, the NIH provides leadership and financial support to researchers in every state and throughout the world ...

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Centers RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.. ...

TY - THES. T1 - Noninvasive prenatal screening and diagnosis. T2 - from bench to clinic. AU - Mersy, Elke. PY - 2016. Y1 - 2016. N2 - The blood of a pregnant woman contains DNA from her unborn child. This DNA can be tested by taking a blood sample from the mother-to-be. In this dissertation, a blood sample was used to determine the sex of the baby and to test for the inheritance of myotonic dystrophy, a chronic muscular disorder. This dissertation also assessed the responsible use of this blood test to screen for Downs syndrome and less severe chromosomal disorders during pregnancy. All pregnant women will be able to request this test to screen for Downs syndrome as of April 2017.. AB - The blood of a pregnant woman contains DNA from her unborn child. This DNA can be tested by taking a blood sample from the mother-to-be. In this dissertation, a blood sample was used to determine the sex of the baby and to test for the inheritance of myotonic dystrophy, a chronic muscular disorder. This ...

The 8th international Myotonic Dystrophy Consortium Meeting (IDMC-8) will take place in Clearwater Beach, Florida, between 30th November and 3rd December.. Graduate students, postdoctoral fellows and medical fellows (classified on the IDMC-8 website as Young Scientists) are particularly encouraged to attend: based on current fundraising efforts, the organising committee hope to reimburse a significant proportion of travel and accommodation costs for Young Scientists, and multiple prizes will also be awarded for best oral and poster presentations.. The IDMC is an informal group of clinicians and research scientists with a common interest in understanding the molecular basis of myotonic dystrophy (DM), and generating effective treatment strategies. The IDMC-8 meeting provides a forum for scientific presentations and discussions, as well as promoting interaction between clinicians, scientists, patients and their families. ...

The tongue is a very important muscle and holds countless clues for the neurologist. It is innervated by the last of the 12 cranial nerves, the hypoglossal nerve. which may be paralysed by a very localised stroke and this is often in the context of a condition called cervical artery dissection. This is a tear in one of the big arteries in the neck which take blood to the brain. The tear may arise from trivial neck movements and manipulations such as look up for a long time or staying too long on the hairdressers couch. A clot then forms at the site of the tear, and this then migrates to block a smaller blood vessel supplying the brainstem where the hypoglossal nerve sets off from…phew! Anyway, when this kind of stroke occurs, the tongue deviates to the the weaker side when it is poked out.. The more general weakness of the tongue is seen in conditions such as motor neurone disease (MND), in which the tongue also quivers at rest-something neurologists call fasciculations. The cheeky neurologist ...

In international collaboration with the TREAT-NMD alliance, we have established Remudy, which runs three official national registries for dystrophinopathy, GNE myopathy, and myotonic dystrophy. The myotonic dystrophy registration was recently launched in collaboration with Osaka University and several institutes in the National Hospital Organization. The aim of Remudy is to develop clinical research infrastructure and accelerate clinical development research for these rare diseases in Japan. To date, we have provided data sets for feasibility studies in response to inquiries, sent out information on clinical trials to the candidates in preparation for recruitment phases and, implemented a new registry-based research format to present the natural history and epidemiological data of rare diseases. Remudy provides a prototype clinical research infrastructure to help efforts to overcome these rare and incurable diseases. Recently, Remudy started operating a user-friendly, secure web-based registry ...

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The molecular missteps that disrupt brain function in the most common form of adult-onset muscular dystrophy have been revealed in a new study. Myotonic dystrophy is marked by progressive muscle wasting and weakness, as well as sleepiness, memory problems, and mental retardation. A new mouse model reported in the journal Neuron reproduces key cognitive and behavioral symptoms of this disease and could be used to develop drug treatments, which are currently lacking.

As of mid-2002, gene therapy treatment of LGMD was tried in a very small number of patients. These early experiments delivered a functional gene to a very small muscle in the foot and were designed to test the long-term safety and effectiveness of the treatment. Gene therapy for DMD is much more problematic, because of the immense size of the gene and the distribution throughout the body that would be required for effective treatment. Drug treatment with prednisone or other corticosteroids is being used, although at best this provides another six to twelve months of mobility before a wheelchair becomes necessary. There are no effective treatments for myotonic dystrophy as of 2002, although research continues in many laboratories worldwide.. ...

Ward C.R. , 2007. 37(4): p.745-54, vii. Thyroid storm is a syndrome described in human medicine to define a multisystemic disorder resulting from organ exposure

Alomari MH, Kozakewich HPW, Kerr CL, Uller W, Davis SL, Chaudry G, Liang MG, Orbach DB, Mulliken JB, Greene AK, Afshar S, Fishman SJ, Taghinia AH, Al-Ibraheemi A, Alomari AI. Congenital Disseminated Pyogenic Granuloma: Characterization of an Aggressive Multisystemic Disorder. J Pediatr. 2020 Jul 02 ...

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By Johanne Bissonnette Univalor recently obtained financial support from the Quebec government and AmorChem to support the research of Dr. Pascal Chartrand, from the Université de Montréal. This work aims to develop a treatment against type I myotonic dystrophy, a rare genetic disease against which there is no treatment. On the occasion of International Rare Disease Day, which will be held on February 28 with the theme Join Together for Better Care, Vector considers the challenges of developing drugs to treat rare diseases and the difficulties facing the people affected by these conditions. Related articles will follow in the next issue of the Univalor newsletter.. ...

The Myotonic Dystrophy Foundation (MDF) formally announces the first two $100,000 awards under its postdoctoral fellowship program.

Improving the quality of life of people living with myotonic dystrophy through funding for basic and translational research efforts and patient advocacy.. ...

TY - JOUR. T1 - The epidemiology of neuromuscular disorders: Age at onset and gender in the Netherlands. AU - Deenen, Johanna C. W.. AU - van Doorn, Pieter A.. AU - Faber, Karin. AU - van der Kooi, Anneke J.. AU - Kuks, Jan B. M.. AU - Notermans, Nicolette C.. AU - Visser, Leo H.. AU - Horlings, Corinne G. C.. AU - Verschuuren, Jan J. G. M.. AU - Verbeek, Andre L. M.. AU - van Engelen, Baziel G. M.. PY - 2016/7. Y1 - 2016/7. KW - Neuromuscular disorders. KW - Neuromuscular diseases. KW - Epidemiology. KW - Age. KW - Gender. U2 - 10.1016/j.nmd.2016.04.011. DO - 10.1016/j.nmd.2016.04.011. M3 - Article. VL - 26. SP - 447. EP - 452. JO - Neuromuscular Disorders. JF - Neuromuscular Disorders. SN - 0960-8966. IS - 7. ER - ...

Acrogeria, Gottron type is a premature aging syndrome. Characteristic signs include fragile, thin skin on the hands and feet. Other parts of the body (e.g., face, forearms, and lower legs) are variably affected. It is generally considered to be a mild, nonprogressive, congenital form of skin atrophy due to the loss of the fatty tissue directly under the skin. Other symptoms reported in individual cases include small hands and feet, prominent veins on the chest, small stature, small jaw, premature senility, premature hair greying, endocrine disturbances, and cataracts. Currently the cause of this condition is unknown ...

A type 1 excludes note is a pure excludes. It means not coded here. A type 1 excludes note indicates that the code excluded should never be used at the same time as P61. A type 1 excludes note is for used for when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition ...

A type 1 excludes note is a pure excludes. It means not coded here. A type 1 excludes note indicates that the code excluded should never be used at the same time as A88. A type 1 excludes note is for used for when two conditions cannot occur together, such as a congenital form versus an acquired form of the same condition ...

Definition of Thoracic-pelvic-phalangeal dystrophy with photos and pictures, translations, sample usage, and additional links for more information.

Vulvar Dystrophy According to the American Congress of Obstetricians and Gynecologists educational resources, vulvar dystrophy is the growth of abnormal skin on the vulva.

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