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Congenital myotonic dystrophy

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https://www.readbyqxmd.com/read/29901230/orofacial-strength-dysarthria-and-dysphagia-in-congenital-myotonic-dystrophy
#1
Kiera N Berggren, Man Hung, Melissa M Dixon, Jerry Bounsanga, Becky Crockett, Mary D Foye, Yushan Gu, Craig Campbell, Russell J Butterfield, Nicholas E Johnson
INTRODUCTION: We describe an exploratory study of orofacial function in children with congenital myotonic dystrophy (CDM) versus healthy controls. METHODS: We evaluated 41 children with CDM and 29 healthy controls for speech and swallow function and for lingual and labial strength. RESULTS: The Iowa Oral Performance Instrument (IOPI), measuring tongue strength, and a lip force meter (LFM), measuring lip strength, had excellent inter-rater reliability with ICCs of 0...
June 14, 2018: Muscle & Nerve
https://www.readbyqxmd.com/read/29892259/abnormalities-in-skeletal-muscle-myogenesis-growth-and-regeneration-in-myotonic-dystrophy
#2
REVIEW
Laurène M André, C Rosanne M Ausems, Derick G Wansink, Bé Wieringa
Myotonic dystrophy type 1 (DM1) and 2 (DM2) are autosomal dominant degenerative neuromuscular disorders characterized by progressive skeletal muscle weakness, atrophy, and myotonia with progeroid features. Although both DM1 and DM2 are characterized by skeletal muscle dysfunction and also share other clinical features, the diseases differ in the muscle groups that are affected. In DM1, distal muscles are mainly affected, whereas in DM2 problems are mostly found in proximal muscles. In addition, manifestation in DM1 is generally more severe, with possible congenital or childhood-onset of disease and prominent CNS involvement...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29871899/myotonic-dystrophy-type-1-clinical-manifestations-in-children-and-adolescents
#3
Genevieve Ho, Kate A Carey, Michael Cardamone, Michelle A Farrar
OBJECTIVE: Myotonic dystrophy type 1 (DM1) is an autosomal-dominant neuromuscular disease with variable severity affecting all ages; however, current care guidelines are adult-focused. The objective of the present study was to profile DM1 in childhood and propose a framework to guide paediatric-focused management. DESIGN, SETTING AND PATIENTS: 40 children with DM1 (mean age 12.8 years; range 2-19) were studied retrospectively for a total of 513 follow-up years at Sydney Children's Hospital...
June 5, 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/29687899/myotonic-dystrophy-and-developmental-regulation-of-rna-processing
#4
James D Thomas, Ruan Oliveira, Łukasz J Sznajder, Maurice S Swanson
Myotonic dystrophy (DM) is a multisystemic disorder caused by microsatellite expansion mutations in two unrelated genes leading to similar, yet distinct, diseases. DM disease presentation is highly variable and distinguished by differences in age-of-onset and symptom severity. In the most severe form, DM presents with congenital onset and profound developmental defects. At the molecular level, DM pathogenesis is characterized by a toxic RNA gain-of-function mechanism that involves the transcription of noncoding microsatellite expansions...
March 25, 2018: Comprehensive Physiology
https://www.readbyqxmd.com/read/29433794/clinically-variable-nemaline-myopathy-in-a-three-generation-family-caused-by-mutation-of-the-skeletal-muscle-alpha-actin-gene
#5
Vilma-Lotta Lehtokari, Maria Gardberg, Katarina Pelin, Carina Wallgren-Pettersson
We present here a Finnish nemaline myopathy family with a dominant mutation in the skeletal muscle α-actin gene, p.(Glu85Lys), segregating in three generations. The index patient, a 5-year-old boy, had the typical form of nemaline myopathy with congenital muscle weakness and motor milestones delayed but reached, while his mother never had sought medical attention for her very mild muscle weakness, and his maternal grandmother had been misdiagnosed as having myotonic dystrophy. This illustrates the clinical variability in nemaline myopathy...
April 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29420722/craniofacial-morphology-and-growth-in-young-patients-with-congenital-or-childhood-onset-myotonic-dystrophy
#6
Clara Fontinha, Monica Engvall, Lotta Sjögreen, Stavros Kiliaridis
Background/objectives: This study investigated the craniofacial morphology of young individuals with congenital or childhood onset myotonic dystrophy type 1 (DM1) compared to healthy subjects. The study also followed growth changes in their facial morphology over a 5-year period. Materials/methods: Lateral cephalograms of the 26 subjects (young patients with DM1 from west and south Sweden) were taken at baseline and after a 5-year period. These radiographs were compared with normal standards based on healthy individuals from the Michigan Growth Study, according to their age and sex, using paired t-tests (P < 0...
February 6, 2018: European Journal of Orthodontics
https://www.readbyqxmd.com/read/29398295/genotype-and-other-determinants-of-respiratory-function-in-myotonic-dystrophy-type-1
#7
Ghilas Boussaïd, Karim Wahbi, Pascal Laforet, Bruno Eymard, Tanya Stojkovic, Anthony Behin, Annane Djillali, David Orlikowski, Hélène Prigent, Frédéric Lofaso
New treatments are being developed for myotonic dystrophy type 1 (DM1). To evaluate their efficacy, knowledge about the natural history of respiratory dysfunction and its relationship with the genotype will be crucial. Also needed is information on factors predicting the time-course of respiratory function in DM1. Using data from 283 patients, we built a segmented linear mixed-effects regression model to assess respiratory function changes over time. Respiratory variables associated with the CTG repeat number were identified by multivariate linear regression analysis...
March 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29383602/recurrence-of-gastric-masses-in-a-neonate-with-congenital-myotonic-dystrophy
#8
Pooja Shivananda Siddhi, Imogen Storey
No abstract text is available yet for this article.
January 31, 2018: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/29361396/childhood-onset-form-of-myotonic-dystrophy-type-1-and-autism-spectrum-disorder-is-there-comorbidity
#9
N Angeard, E Huerta, A Jacquette, D Cohen, J Xavier, M Gargiulo, L Servais, B Eymard, D Héron
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder with neuromuscular symptoms and brain dysfunctions. Depending on the phenotypic expression, the degree of cognitive impairment remains heterogeneous, ranging from moderate to severe intellectual disability in the congenital form, to executive, visuospatial and personality dysfunction in the adult-onset form. Studies exploring the cognitive or psychiatric impairments in the childhood form of DM1, characterized by an age of onset between one and ten years, uneventful pre and post natal history and normal development the first year of life, are scarce and show conflicting results in regard to a comorbid diagnosis of Autism Spectrum Disorder (ASD)...
March 2018: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/29327796/speech-characteristics-in-the-congenital-and-childhood-onset-forms-of-myotonic-dystrophy-type-1
#10
Lotta Sjögreen, Åsa Mårtensson, Anne-Berit Ekström
BACKGROUND: Myotonic dystrophy type 1 (DM1) is a slowly progressive multi-systemic disease with an autosomal-dominant inheritance caused by a mutation on chromosome 19 (19q13.3). AIMS: To explore speech characteristics in a group of individuals with the congenital and childhood-onset forms of DM1 in terms of intelligibility, speech-sound production, nasality and compensatory articulation. A further aim was to analyse whether speech characteristics were correlated to subforms of DM1 and if speech outcome could be related to muscle strength...
January 12, 2018: International Journal of Language & Communication Disorders
https://www.readbyqxmd.com/read/29203592/correction-of-gsk3%C3%AE-at-young-age-prevents-muscle-pathology-in-mice-with-myotonic-dystrophy-type-1
#11
Christina Wei, Lauren Stock, Leila Valanejad, Zachary A Zalewski, Rebekah Karns, Jack Puymirat, David Nelson, David Witte, Jim Woodgett, Nikolai A Timchenko, Lubov Timchenko
Myotonic dystrophy type 1 (DM1) is a progressive neuromuscular disease caused by expanded CUG repeats, which misregulate RNA metabolism through several RNA-binding proteins, including CUG-binding protein/CUGBP1 elav-like factor 1 (CUGBP1/CELF1) and muscleblind 1 protein. Mutant CUG repeats elevate CUGBP1 and alter CUGBP1 activity via a glycogen synthase kinase 3β (GSK3β)-cyclin D3-cyclin D-dependent kinase 4 (CDK4) signaling pathway. Inhibition of GSK3β corrects abnormal activity of CUGBP1 in DM1 mice [human skeletal actin mRNA, containing long repeats ( HSALR ) model]...
April 2018: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://www.readbyqxmd.com/read/29196274/neuromuscular-diseases-diagnosis-and-management
#12
REVIEW
P Mary, L Servais, R Vialle
Neuromuscular diseases (NMDs) affect the peripheral nervous system, which includes the motor neurons and sensory neurons; the muscle itself; or the neuromuscular junction. Thus, the term NMDs encompasses a vast array of different syndromes. Some of these syndromes are of direct relevance to paediatric orthopaedic surgeons, either because the presenting manifestation is a functional sign (e.g., toe-walking) or deformity (e.g., pes cavus or scoliosis) suggesting a need for orthopaedic attention or because orthopaedic abnormalities requiring treatment develop during the course of a known NMD...
February 2018: Orthopaedics & Traumatology, Surgery & Research: OTSR
https://www.readbyqxmd.com/read/29113982/nanopore-sequencing-of-complex-genomic-rearrangements-in-yeast-reveals-mechanisms-of-repeat-mediated-double-strand-break-repair
#13
Ryan J McGinty, Rachel G Rubinstein, Alexander J Neil, Margaret Dominska, Denis Kiktev, Thomas D Petes, Sergei M Mirkin
Improper DNA double-strand break (DSB) repair results in complex genomic rearrangements (CGRs) in many cancers and various congenital disorders in humans. Trinucleotide repeat sequences, such as (GAA)n repeats in Friedreich's ataxia, (CTG)n repeats in myotonic dystrophy, and (CGG)n repeats in fragile X syndrome, are also subject to double-strand breaks within the repetitive tract followed by DNA repair. Mapping the outcomes of CGRs is important for understanding their causes and potential phenotypic effects...
December 2017: Genome Research
https://www.readbyqxmd.com/read/29091763/aberrant-myokine-signaling-in-congenital-myotonic-dystrophy
#14
Masayuki Nakamori, Kohei Hamanaka, James D Thomas, Eric T Wang, Yukiko K Hayashi, Masanori P Takahashi, Maurice S Swanson, Ichizo Nishino, Hideki Mochizuki
Myotonic dystrophy types 1 (DM1) and 2 (DM2) are dominantly inherited neuromuscular disorders caused by a toxic gain of function of expanded CUG and CCUG repeats, respectively. Although both disorders are clinically similar, congenital myotonic dystrophy (CDM), a severe DM form, is found only in DM1. CDM is also characterized by muscle fiber immaturity not observed in adult DM, suggesting specific pathological mechanisms. Here, we revealed upregulation of the interleukin-6 (IL-6) myokine signaling pathway in CDM muscles...
October 31, 2017: Cell Reports
https://www.readbyqxmd.com/read/29072789/abnormally-invasive-placentation-in-a-woman-with-congenital-myotonic-dystrophy
#15
Lise-Marie Dorcier, Frédéric Coatleven, Hugo Madar, Loïc Sentilhes
No abstract text is available yet for this article.
March 2018: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/28988213/management-of-pneumatosis-intestinalis-in-children-over-the-age-of-6-months-a-conservative-approach
#16
Leel Nellihela, Mohamed Mutalib, David Thompson, Kammermeier Jochen, Manasvi Upadhyaya
BACKGROUND: Pneumatosis intestinalis (PI) is an uncommon and poorly understood condition. Although it can be an incidental finding in asymptomatic individuals, it can also be secondary to life-threatening bowel ischaemia and sepsis. In premature infants, it is a pathognomonic sign of necrotising enterocolitis. There is no consensus regarding management and long-term outcome of children with PI. AIM: Review of our experience of PI in children beyond the early infantile period...
April 2018: Archives of Disease in Childhood
https://www.readbyqxmd.com/read/28914735/palliative-care-in-neuromuscular-diseases
#17
Marianne de Visser, David J Oliver
PURPOSE OF REVIEW: Palliative care is an approach that improves the quality of life of patients and their families facing the problem associated with life-threatening illness. Neuromuscular disorders (NMDs) are characterized by progressive muscle weakness, leading to pronounced and incapacitating physical disabilities. Most NMDs are not amenable to curative treatment and would thus qualify for palliative care. Amyotrophic lateral sclerosis is a relentlessly progressive disease, which leads to death about 2 years after onset due to respiratory muscle weakness...
December 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28879884/global-muscular-dystrophy-research-a-25-year-bibliometric-perspective
#18
REVIEW
Shri Ram
Muscular dystrophy is a genetic disorder leading to progressive weakness of muscles caused due to dysfunction in or lack of protein in muscle cells. The prevalence of muscular dystrophy has been observed globally and is becoming a critical area of study for better health services. The purpose of the study is to analyze the research strength of muscular dystrophy using bibliographic literature. A quantitative literature analysis was carried out on muscular dystrophy from 1991 to 2015 for assessing the global research trends...
September 2017: Neurology India
https://www.readbyqxmd.com/read/28833235/abstracts
#19
M McIntyre, M Dixon, E M Pucillo, D DiBella, R Crockett, M Hung, J Bounsanga, R J Butterfield, C Campbell, N E Johnson
INTRODUCTION: Children with congenital myotonic dystrophy (CDM) have communication and motor delays. It's not well studied how communication delays affect performance on functional measures such as four-stair climb (4SC), rise from floor (RFF) and 10-meter run (10MR). METHODS: 49 participants with CDM were recruited in to three age-based cohorts. Motor performance was assessed in the two oldest cohorts using the 4SC, RFF and 10MR. Each participant's Age Equivalent Receptive Communication was calculated using the Vineland Adaptive Behavior Scales-II...
August 22, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28791262/clinical-characteristics-of-pregnancies-complicated-by-congenital-myotonic-dystrophy
#20
Cheonga Yee, Suk-Joo Choi, Soo-Young Oh, Chang-Seok Ki, Cheong-Rae Roh, Jong-Hwa Kim
OBJECTIVE: Although the conventional prevalence of myotonic dystrophy is 1:8,000, the prevalence in Korean population was recently reported as 1:1,245. With higher domestic result than expected, we aimed to investigate the clinical characteristics of pregnancies complicated by congenital myotonic dystrophy in our institution. METHODS: We have reviewed 11 paired cases of neonates diagnosed with congenital myotonic dystrophy and their mothers between July 2004 and May 2014, with clinical features including maternal history of infertility, prenatal ultrasonographic findings, and neonatal outcomes...
July 2017: Obstetrics & Gynecology Science
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