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Congenital myotonic dystrophy

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https://www.readbyqxmd.com/read/28548834/subtly-modulating-glycogen-synthase-kinase-3-%C3%AE-allosteric-inhibitor-development-and-their-potential-for-the-treatment-of-chronic-diseases
#1
Valle Palomo, Daniel I Perez, Carlos Roca, Cara Anderson, Natalia Rodríguez-Muela, Concepción Perez, Jose A Morales-Garcia, Julio A Reyes, Nuria E Campillo, Ana M Perez-Castillo, Lee L Rubin, Lubov Timchenko, Carmen Gil, Ana Martinez
Glycogen synthase kinase 3 β (GSK-3β) is a central target in several unmet diseases. To increase the specificity of GSK-3β inhibitors in chronic treatments, we developed small molecules allowing subtle modulation of GSK-3β activity. Design synthesis, structure-activity relationships, and binding mode of quinoline-3-carbohydrazide derivatives as allosteric modulators of GSK-3β are presented here. Furthermore, we show how allosteric binders may overcome the β-catenin side effects associated with strong GSK-3β inhibition...
June 6, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28344438/learning-disabilities-in-neuromuscular-disorders-a-springboard-for-adult-life
#2
Guja Astrea, Roberta Battini, Sara Lenzi, Silvia Frosini, Silvia Bonetti, Elena Moretti, Silvia Perazza, Filippo M Santorelli, Chiara Pecini
Although the presence of cognitive deficits in Duchenne muscular dystrophy or myotonic dystrophy DM1 is well established in view of brain-specific expression of affected muscle proteins, in other neuromuscular disorders, such as congenital myopathies and limb-girdle muscular dystrophies, cognitive profiles are poorly defined. Also, there are limited characterization of the cognitive profile of children with congenital muscular dystrophies, notwithstanding the presence of cerebral abnormality in some forms, and in spinal muscular atrophies, with the exception of distal spinal muscular atrophy (such as the DYN1CH1- associated form)...
October 2016: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/28257691/cpg-methylation-a-parent-of-origin-effect-for-maternal-biased-transmission-of-congenital-myotonic-dystrophy
#3
Lise Barbé, Stella Lanni, Arturo López-Castel, Silvie Franck, Claudia Spits, Kathelijn Keymolen, Sara Seneca, Stephanie Tomé, Ioana Miron, Julie Letourneau, Minggao Liang, Sanaa Choufani, Rosanna Weksberg, Michael D Wilson, Zdenek Sedlacek, Cynthia Gagnon, Zuzana Musova, David Chitayat, Patrick Shannon, Jean Mathieu, Karen Sermon, Christopher E Pearson
CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of severity and ages of onset. Congenital DM1 (CDM1), the most severe form, presents distinct clinical features, large expansions, and almost exclusive maternal transmission. The correlation between CDM1 and expansion size is not absolute, suggesting contributions of other factors. We determined CpG methylation flanking the CTG repeat in 79 blood samples from 20 CDM1-affected individuals; 21, 27, and 11 individuals with DM1 but not CDM1 (henceforth non-CDM1) with maternal, paternal, and unknown inheritance; and collections of maternally and paternally derived chorionic villus samples (7 CVSs) and human embryonic stem cells (4 hESCs)...
March 2, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/28221312/what-s-in-the-literature
#4
David Lacomis, Nicholas J Silvestri, Edward J Fine, Gil I Wolfe
In this edition of this column, we review new studies concerning the pathophysiology, treatment, and outcomes of patients with necrotizing myopathy, genetic testing in congenital myopathies, and limb girdle muscular dystrophies, and the incidence of polyneuropathy in the myotonic dystrophies. Various studies in myasthenia gravis, including those concerning antibody testing, clinical features, and quality of life are also reviewed as are recent findings in congenital myasthenic syndromes. Finally, 2 studies concerning polyneuropathy are discussed, including one on the association of polyneuropathy in patients with the metabolic syndrome and one on laboratory testing in patients with otherwise idiopathic small fiber polyneuropathy...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27992942/cardiac-abnormalities-in-congenital-and-childhood-myotonic-muscular-dystrophy-type-1
#5
Anjali Sharma, Sandeep Singh, Shri K Mishra
Myotonic dystrophy often presents with cardiac abnormalities, particularly conduction defects, that factor into an increased risk of sudden cardiac death. Myotonic dystrophy has two forms, myotonic dystrophy type 1 (DM1) and DM2, and is a multisystemic disorder that presents in a wide, clinical spectrum and age range. A distinguishing feature of DM1 is the existence of a congenital form. Though research on cardiac involvement has been conducted on patients with the adult form of myotonic dystrophy, there have been few studies focused on cardiac involvement in pediatric patients with congenital myotonic dystrophy type 1 (CDM1)...
February 2017: Neuropediatrics
https://www.readbyqxmd.com/read/27922499/the-dystrophic-and-nondystrophic-myotonias
#6
Valeria A Sansone
PURPOSE OF REVIEW: This article describes clinical and electrical myotonia and provides an update on the classification, diagnosis, and management of myotonic disorders. RECENT FINDINGS: In the myotonic dystrophies, antisense oligonucleotides provide a general strategy to correct RNA gain of function and modulate the expression of CTG expanded repeats; they are currently being tested in a phase 1-2 randomized controlled trial in patients with adult-onset myotonic dystrophy type 1...
December 2016: Continuum: Lifelong Learning in Neurology
https://www.readbyqxmd.com/read/27859360/physical-function-and-mobility-in-children-with-congenital-myotonic-dystrophy
#7
Evan M Pucillo, Deanna L Dibella, Man Hung, Jerry Bounsanga, Becky Crockett, Melissa Dixon, Russell J Butterfield, Craig Campbell, Nicholas E Johnson
INTRODUCTION: Congenital myotonic dystrophy (CDM) occurs when symptoms of myotonic dystrophy present at birth. In this study we evaluated the relationship between physical function, muscle mass, and age to provide an assessment of the disease and help prepare for therapeutic trials. METHODS: CDM participants performed timed functional tests (TFTs), the first 2 minutes of 6-minute walk tests (2/6MWTs), and myometry tests, and also performed dual-energy X-ray absorption (DEXA) scans...
November 18, 2016: Muscle & Nerve
https://www.readbyqxmd.com/read/27854230/developmental-milestones-and-quality-of-life-assessment-in-a-congenital-myotonic-dystrophy-cohort
#8
Madhavi Prasad, Rhiannon Hicks, Melissa MacKay, Cam-Tu Nguyen, Craig Campbell
BACKGROUND: Congenital myotonic dystrophy (CDM) is a neuromuscular disorder caused by a CTG triplet repeat expansion in the DMPK gene. In addition to the expected motor delay, affected children often have significant developmental disability in language and cognitive realms, which ultimately impacts on quality of life. OBJECTIVE: In a prospective cohort of children with CDM to 1) present the profile of language and motor developmental milestones, and 2) describe their early childhood health related quality of life (HRQOL)...
August 30, 2016: Journal of Neuromuscular Diseases
https://www.readbyqxmd.com/read/27826760/myotonic-dystrophy-type-1-management-and-therapeutics
#9
REVIEW
Cheryl A Smith, Laurie Gutmann
Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, and a multitude of aberrant pre-mRNA splicing events. Patient presentations range from asymptomatic or mild late onset adult to severe congenital forms. Multiple organ systems may be affected. Patients may experience early cataracts, myotonia, muscle weakness/atrophy, fatigue, excessive daytime sleepiness, central/obstructive apnea, respiratory failure, cardiac arrhythmia, insulin resistance, dysphagia, GI dysmotility, cognitive impairment, Cluster C personality traits, and/or mood disorders...
December 2016: Current Treatment Options in Neurology
https://www.readbyqxmd.com/read/27695335/expanded-dmpk-repeats-in-dizygotic-twins-referred-for-diagnosis-of-autism-versus-absence-of-expanded-dmpk-repeats-at-screening-of-330-children-with-autism
#10
Zuzana Musova, Miroslava Hancarova, Marketa Havlovicova, Radka Pourova, Michal Hrdlicka, Josef Kraus, Marie Trkova, David Stejskal, Zdenek Sedlacek
Myotonic dystrophy type 1 (DM1) belongs to the broad spectrum of genetic disorders associated with autism spectrum disorders (ASD). ASD were reported predominantly in congenital and early childhood forms of DM1. We describe dizygotic twin boys with ASD who were referred for routine laboratory genetic testing and in whom karyotyping, FMR1 gene testing, and single nucleotide polymorphism array analysis yielded negative results. The father of the boys was later diagnosed with suspected DM1, and testing revealed characteristic DMPK gene expansions in his genome as well as in the genomes of both twins and their elder brother, who also suffered from ASD...
2016: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/27687340/anesthetic-management-of-a-myotonic-dystrophy-patient-with-paraganglionoma
#11
Ashwin Subramaniam, Robert Grauer, David Beilby, Ravindranath Tiruvoipati
Myotonic dystrophy (DM), though rare, can significantly complicate anesthesia due to muscular and extra-muscular involvement. When this condition is compounded by a pheochromocytoma, anesthetizing such patients becomes extra challenging. We present a case report of a 61-year-old lady with congenital DM, with the whole gamut of associated features, was diagnosed with a noradrenaline secreting paraganglionoma following investigation of refractory hypertension. We anesthetized her for an open resection of the lesion...
November 2016: Journal of Clinical Anesthesia
https://www.readbyqxmd.com/read/27671786/participation-restriction-in-childhood-phenotype-of-myotonic-dystrophy-type-1-a-systematic-retrospective-chart-review
#12
Cynthia Gagnon, Marie Kierkegaard, Catherine Blackburn, Nicolas Chrestian, Mélissa Lavoie, Marie-Frédéric Bouchard, Jean Mathieu
AIM: Myotonic dystrophy type 1 (DM1), a neuromuscular disorder, is divided into four clinical phenotypes: congenital; childhood; adult-onset, and late-onset. Publications about the childhood phenotype, especially the long-term outcome, are scarce. The aims of this study were to assess and describe participation outcomes in adults with the childhood phenotype. METHOD: A retrospective chart methodology. Data were extracted from health records for 63 adults with childhood DM1 (32 males, 31 females; mean age 34y, standard deviation [SD] 11y 6mo; range 18-54y) who had attended the Saguenay Neuromuscular Clinic, Canada...
March 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/27665240/unravelling-the-myotonic-dystrophy-type-1-clinical-spectrum-a-systematic-registry-based-study-with-implications-for-disease-classification
#13
REVIEW
M De Antonio, C Dogan, D Hamroun, M Mati, S Zerrouki, B Eymard, S Katsahian, G Bassez
The broad clinical spectrum of myotonic dystrophy type 1 (DM1) creates particular challenges for both medical care and design of clinical trials. Clinical onset spans a continuum from birth to late adulthood, with symptoms that are highly variable in both severity and nature of the affected organ systems. In the literature, this complex phenotype is divided into three grades (mild, classic, and severe) and four or five main clinical categories (congenital, infantile/juvenile, adult-onset and late-onset forms), according to symptom severity and age of onset, respectively...
October 2016: Revue Neurologique
https://www.readbyqxmd.com/read/27445241/distal-myopathies-case-studies
#14
REVIEW
Aziz Shaibani
About 15% of myopathies present with distal weakness. Lack of sensory deficit, and preservation of sensory responses and deep tendon reflexes, favors a myopathic cause for distal weakness. Electromyogram confirms this diagnosis. Profuse spontaneous discharges are common in inflammatory, metabolic, and myofibrillar myopathy (MFM). If the clinical picture indicates a specific disease such as facioscapulohumeral muscular dystrophy (FSHD), genetic testing provides the quickest diagnosis. Otherwise, muscle biopsy can distinguish specific features...
August 2016: Neurologic Clinics
https://www.readbyqxmd.com/read/27375179/-congenital-neuromuscular-diseases-with-neonatal-respiratory-failure-excluding-myotonic-dystrophy-type-1-and-infantile-spinal-muscular-atrophy-diagnosis-strategy-according-to-a-19-child-series
#15
J Raignoux, U Walther-Louvier, C Espil, L Berthomieu, E Uro-Coste, F Rivier, C Cances
UNLABELLED: Apart from spinal muscular atrophy (SMA) and myotonic dystrophy type 1 (DM1), congenital neuromuscular diseases with early neonatal symptoms mean diagnostic and prognostic challenges mainly when infants require ventilatory support. OBJECTIVES: Consider a standardized strategy for infants suspected of congenital neuromuscular disease from analysis of the literature and retrospective experience with floppy and ventilatory support-dependent infants, after exclusion of well-known diseases (DM1, SMA)...
September 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/27340611/prospect-of-gene-therapy-for-cardiomyopathy-in-hereditary-muscular-dystrophy
#16
Yongping Yue, Ibrahim M Binalsheikh, Stacey B Leach, Timothy L Domeier, Dongsheng Duan
INTRODUCTION: Cardiac involvement is a common feature in muscular dystrophies. It presents as heart failure and/or arrhythmia. Traditionally, dystrophic cardiomyopathy is treated with symptom-relieving medications. Identification of disease-causing genes and investigation on pathogenic mechanisms have opened new opportunities to treat dystrophic cardiomyopathy with gene therapy. Replacing/repairing the mutated gene and/or targeting the pathogenic process/mechanisms using alternative genes may attenuate heart disease in muscular dystrophies...
2016: Expert Opinion on Orphan Drugs
https://www.readbyqxmd.com/read/27330968/relationship-of-white-and-gray-matter-abnormalities-to-clinical-and-genetic-features-in-myotonic-dystrophy-type-1
#17
Stefano Zanigni, Stefania Evangelisti, Maria Pia Giannoccaro, Federico Oppi, Roberto Poda, Antonio Giorgio, Claudia Testa, David Neil Manners, Patrizia Avoni, Laura Ludovica Gramegna, Nicola De Stefano, Raffaele Lodi, Caterina Tonon, Rocco Liguori
BACKGROUND: Myotonic dystrophy type 1 (DM1) represents a multisystemic disorder in which diffuse brain white and gray matter alterations related to clinical and genetic features have been described. We aimed to evaluate in the brain of adult patients with DM1 (i) white and gray matter differences, including cortical-subcortical gray matter volume and cortical thickness and (ii) their correlation with clinical disability, global neuropsychological performance and triplet expansion. METHODS: We included 24 adult genetically-confirmed DM1 patients (14 males; age: 38...
2016: NeuroImage: Clinical
https://www.readbyqxmd.com/read/27306634/disease-burden-and-functional-outcomes-in-congenital-myotonic-dystrophy-a-cross-sectional-study
#18
Nicholas E Johnson, Russell Butterfield, Kiera Berggren, Man Hung, Wei Chen, Deanna DiBella, Melissa Dixon, Heather Hayes, Evan Pucillo, Jerry Bounsanga, Chad Heatwole, Craig Campbell
OBJECTIVE: Herein, we describe the disease burden and age-related changes of congenital-onset myotonic dystrophy (CDM) in childhood. METHODS: Children with CDM and age-matched controls aged 0 to 13 years were enrolled. Participants were divided into cohorts based on the following age groups: 0-2, 3-6, and 7-13 years. Each cohort received age-appropriate evaluations including functional testing, oral facial strength testing, neuropsychological testing, quality-of-life measurements, and ECG...
July 12, 2016: Neurology
https://www.readbyqxmd.com/read/27286495/identification-of-myod-interactome-using-tandem-affinity-purification-coupled-to-mass-spectrometry
#19
Ekaterina Boyarchuk, Philippe Robin, Lauriane Fritsch, Véronique Joliot, Slimane Ait-Si-Ali
Skeletal muscle terminal differentiation starts with the commitment of pluripotent mesodermal precursor cells to myoblasts. These cells have still the ability to proliferate or they can differentiate and fuse into multinucleated myotubes, which maturate further to form myofibers. Skeletal muscle terminal differentiation is orchestrated by the coordinated action of various transcription factors, in particular the members of the Muscle Regulatory Factors or MRFs (MyoD, Myogenin, Myf5, and MRF4), also called the myogenic bHLH transcription factors family...
2016: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/27258100/-i-know-that-you-know-that-i-know-neural-substrates-associated-with-social-cognition-deficits-in-dm1-patients
#20
Laura Serra, Mara Cercignani, Michela Bruschini, Lisa Cipolotti, Matteo Mancini, Gabriella Silvestri, Antonio Petrucci, Elisabetta Bucci, Giovanni Antonini, Loretta Licchelli, Barbara Spanò, Manlio Giacanelli, Carlo Caltagirone, Giovanni Meola, Marco Bozzali
Myotonic dystrophy type-1 (DM1) is a genetic multi-systemic disorder involving several organs including the brain. Despite the heterogeneity of this condition, some patients with non-congenital DM1 can present with minimal cognitive impairment on formal testing but with severe difficulties in daily-living activities including social interactions. One explanation for this paradoxical mismatch can be found in patients' dysfunctional social cognition, which can be assessed in the framework of the Theory of Mind (ToM)...
2016: PloS One
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