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Academic literature on the topic 'Distrofia miotonica tipo 1 (DM1)'
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Journal articles on the topic "Distrofia miotonica tipo 1 (DM1)"
Oliveira, Maria Isabelle Neves de, Natalia Cristina Picco da Silva, Luiz Carlos Boaventura, and Heloise Cazangi Borges. "Gameterapia na marcha e equilíbrio na distrofia miotônica tipo 1: relato de caso." Acta Fisiátrica 29, Supl.1 (November 30, 2022): S56—S58. http://dx.doi.org/10.11606/issn.2317-0190.v29isupl.1a204958.
Full textGutiérrez Gutiérrez, G., J. Díaz-Manera, M. Almendrote, S. Azriel, J. Eulalio Bárcena, P. Cabezudo García, A. Camacho Salas, et al. "Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert." Neurología 35, no. 3 (April 2020): 185–206. http://dx.doi.org/10.1016/j.nrl.2019.01.001.
Full textGutiérrez Gutiérrez, Gerardo, Jordi Díaz-Manera, Míriam Almendrote, Sharona Azriel, José Eulalio Bárcena, Pablo Cabezudo García, Ana Camacho Salas, et al. "Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert." Medicina Clínica 153, no. 2 (July 2019): 82.e1–82.e17. http://dx.doi.org/10.1016/j.medcli.2018.10.028.
Full textVásquez Cerdas, Melissa, Rebeca Vindas-Smith, Patricia Cuenca Berger, Gerardo Del Valle Carazo, and Fernando Morales Montero. "Estudios genético-moleculares de miotonías hereditarias en la población costarricense." Población y Salud en Mesoamérica, November 22, 2021. http://dx.doi.org/10.15517/psm.v19i2.48067.
Full textCoste Murillo, Pablo. "CASO 4-2015: FEMENINA DE 42 AÑOS CON ICTUS Y DISTROFIA MIOTONICA TIPO 1." Revista Clínica Escuela de Medicina UCR-HSJD 5, no. 2 (April 1, 2015). http://dx.doi.org/10.15517/rc_ucr-hsjd.v5i2.18867.
Full textGoñi Ros, Nuria, Paula Sienes Bailo, Ricardo González Tarancón, Loreto Martorell Sampol, and Silvia Izquierdo Álvarez. "Tamaño de repeticiones CTG no aumentado en la transmisión de un padre con alelo expandido: falsa sospecha de fenómeno de contracción." Advances in Laboratory Medicine / Avances en Medicina de Laboratorio, March 2, 2023. http://dx.doi.org/10.1515/almed-2022-0120.
Full textRomigi, A. "Guía clínica para el diagnóstico y seguimiento de la distrofia miotónica tipo 1, DM1 o enfermedad de Steinert: somnolencia y papel de la escala de somnolencia de Epworth." Neurología, July 2020. http://dx.doi.org/10.1016/j.nrl.2020.06.004.
Full textDissertations / Theses on the topic "Distrofia miotonica tipo 1 (DM1)"
Fritegotto, Chiara. "Indagini genetiche, molecolari e traslazionali in diverse forme di distrofie muscolari." Doctoral thesis, Università degli studi di Padova, 2014. http://hdl.handle.net/11577/3424084.
Full textLa Distrofia Miotonica (DM) è la più comune forma di distrofia muscolare nell’adulto. In particolare un’espansione della tripletta CTG nella regione 3’UTR del gene DMPK (myotonic dystrophy protein kinasi) è causativa della distrofia miotonica di tipo 1 (DM1; MIM# 160900), una malattia a trasmissione autosomica dominante, multisistemica che coinvolge diversi apparati del corpo umano come il sistema endocrino, il cuore, i muscoli scheletrici, oculari, il cervello. La DM1 presenta forme congenite e il coinvolgimento del sistema nervoso centrale. I microRNA sono corte molecole di RNA a singolo filamento non codificanti, in grado di regolare l’espressione genica a livello post trascrizionale. Sono coinvolti in molti processi biologici, come lo sviluppo embrionale, il differenziamento e la proliferazione cellulare. Esistono dei microRNA espressi a livello muscolare (myomiRs), in particolare il miR-1 e il miR133a/b, espressi nel muscolo scheletrico e cardiaco, e il miR-206, espresso nel muscolo scheletrico. L’obiettivo principale è di studiare il profilo di espressione di questi microRNA nel muscolo scheletrico e nel siero di pazienti affetti da distrofia miotonica di tipo 1. I risultati dello studio nel muscolo hanno mostrato una diminuzione di miR-1 e miR-133a nei pazienti DM1 rispetto ai controlli, miR-133b non mostra significative variazioni, mentre miR-206 aumenta significativamente nel muscolo di pazienti DM1. Questi dati sono stati confrontati con la valutazione semiquantitativa del grado di compromissione istopatologico delle biopsie muscolari, senza però trovare una correlazione tra alterazione dell’espressione dei microRNA e compromissione del muscolo. Si sono indagati i livelli dei microRNA nel siero di pazienti DM1 prima e dopo un periodo di riabilitazione, allo scopo di comprendere il ruolo di queste molecole a livello muscolare e in particolare il loro coinvolgimento in processi di ipertrofia e rigenerazione muscolare. Le analisi svolte sul siero al tempo zero (ingresso all’ospedale) evidenziano una diminuzione nell’espressione di miR-1, miR-133b e miR-206 rispetto ai controlli, al contrario miR-133a mostra un livello di espressione più elevato. Dopo trattamento riabilitativo (tempo 1) c’è un abbassamento significativo di tutti e quattro i microRNA analizzati
Casanova, Manuela Amaral Mucci. "Estudo da marcha da distrofia miotonica tipo 1 : parametros espaciais, temporais e cinematica." [s.n.], 2008. http://repositorio.unicamp.br/jspui/handle/REPOSIP/313862.
Full textDissertação (mestrado) - Universidade Estadual de Campinas, Faculdade de Ciencias Medicas
Made available in DSpace on 2018-08-11T03:23:57Z (GMT). No. of bitstreams: 1 Casanova_ManuelaAmaralMucci_M.pdf: 2345728 bytes, checksum: f66ccc6bdf60b6250a95b5911fe73602 (MD5) Previous issue date: 2008
Resumo: A Distrofia Miotônica tipo 1 é doença multisistêmica que afeta com freqüência o músculo estriado, repercutindo na marcha, a qual pode apresentar-se em um espectro, desde muito anormal a sutis alterações de difícil caracterização através da visão humana. O objetivo deste trabalho foi analisar as variáveis espaciais, temporais e cinemáticas da marcha de afetados pela doença. Desenhou-se estudo prospectivo do tipo caso (n = 10) e controles (n = 20); os sujeitos foram investigados quanto à clínica da marcha e submetidos ao teste de força muscular. Marcadores reflexivos foram fixados em membros superiores, inferiores, tronco e pelve. A marcha, com pés descalços, ocorreu em passarela de 6 metros, capturada por 6 câmeras. Foram coletadas e analisadas 3 amostras de cada participante através do Sistema Qualisys®. Utilizou-se o Teste Exato de Fisher e o Teste de Mann-Whitney para a comparação das variáveis demográficas entre os grupos e a estatística descritiva dos casos. Encontrou-se alterações laboratoriais nos 10 pacientes, embora 04 não tivessem clínica de marcha anormal. O comprimento da passada foi diminuído em 80% dos casos, cadência menor em 30% e velocidade lenta em 40%. Anormalidade no movimento do quadril foi observada em 100% dos pacientes, da pelve em 90% e do tornozelo em 70%. O exame laboratorial da marcha permitiu diagnosticar alterações precoces, antes do aparecimento de déficit muscular à oposição de força, como ocorreu em 2 casos. A disfunção da marcha em laboratório esteve associada à fraqueza muscular distal isoladamente em 40%; e em associação com déficit proximal e distal em outros 40%
Abstract: Myotonic Dystrophy type 1 is a multisystemic disease that frequently affects the striated muscle with repercussion on gait. Gait function may be very abnormal or exhibit subtle alterations of difficult characterization by the human eyes. With objective to analyse the spatiotemporal and kinematics variables parameters of gait in patients affected by the disease, a prospective study of type case (n = 10) and controls (n = 20) was designed. The subjects were investigated in relation to clinical aspects of gait and submitted to the muscular force test. Reflexive markers were affixed in the upper and lower extremities, trunk and pelvis. A barefooted gait was performed in a 6-meter runway and captured by 6 ProReflex cameras. Three samples of each patient were collected and analyzed by the Qualisys® System. The Exact Test of Fisher and the Mann-Whitney Test were used for comparison of demographic variables between the groups and a descriptive statistic for cases. Abnormalities were found in all 10 patients, although 4 had no clinical evidence of gait problems. Stride was diminished in 80% of the cases, cadence in 30% and slow speed in 40%. Gait dysfunction was observed in 100% of the patients¿ hips, 90% of pelvis and 70% of ankles. The laboratory examination of gait allows early detection of alterations, even before the appearance of muscular deficit by manual force opposition test as occurred in two cases. Gait dysfunction observed in the laboratory was associated with distal muscular weakness in 40% of the patients and in association with proximal and distal deficits in others 40%
Mestrado
Ciencias Biomedicas
Mestre em Ciências Médicas
MANICONE, Mariagrazia. "Biopsia cutanea finalizzata allo studio delle fibre nervose dermo-epidermiche in pazienti affetti da distrofia miotonica di tipo 1 senza segnali elettrofisiologici di neuropatia periferica." Doctoral thesis, Università Politecnica delle Marche, 2008. http://hdl.handle.net/11566/242588.
Full textCagnetti, Claudia. "Distrofia miotonica tipo 1 (Malattia di Steinert) e disturbi del sonno: prevalenza e severità dei disturbi respiratori durante il sonno al momento della diagnosi e scarsa consapevolezza da parte del paziente." Doctoral thesis, Università Politecnica delle Marche, 2011. http://hdl.handle.net/11566/241873.
Full textBackground and purpose: Myotonic dystrophy (DM) is the most common dystrophy in adults. It is an autosomal dominant disease characterized by a variety of multisystemic features. Myotonic dystrophy type 1 (DM1) is caused by trinucleotide expansion of CTG in the myotonic dystrophy protein kinase gene. Clinical manifestations of DM1 include respiratory disorders. The goals of this study were to evaluate the prevalence and the severity of respiratory disorders in DM1 patients at diagnosis and to assess the awareness of the patients about the disease and the respiratory condition. Patients and Methods: Consecutive patients with a genetically confirmed diagnosis of DM1 admitted in Clinica Neurologica of Ancona from September 2007 to October 2010 were enrolled at diagnosis. Patients underwent general and neurological physical examination, ophthalomological assessment, chest X-ray and electromyography (EMG). We analysed the clinical features of patients, the reason that led to diagnosis, the presence of symptoms suggestive of a respiratory disorder (such as fatigue, dyspnea, morning headache, etc). Nocturnal cardiorespiratory monitoring as well as spirometry and blood gases were performed in all DM1 patients. Myotonia and muscle weakness were rated using the five point muscular disability rating scale (MDRS) and excessive daytime sleepness was assessed by the Epworth Sleepiness Scale (ESS). Were regarded as suffering from impaired lung function, patients who had at least one of the following: daytime PaCO2 ≥ 45 mm Hg, forced vital capacity (FVC) <80% predicted, AHI> 10 events per hour of sleep, SaO2 <90% for ≥ 5% of the night. Indication for Noninvasive Positive Pressure Ventilation (NIV) was one of PaCO2 ≥ 45 mm Hg, nocturnal oxygen saturation ≤ 88% for 5 consecutive minutes, FVC< 50% predicted. Results: Data were collected on 21 patients (11 female/10 male), mean age 39,7 years (range 19-61 years). EMG revealed typical myotonic changes in all patients. None of the patients had chest deformity. The reason that led to diagnosis of DM1 was the presence of a sick relative in 7 cases (33.35%), the myotonic phenomenon in 3 (14.3%), detection of iperCKemia to blood tests in 2 (9, 5%), weakness in 7 (33.35%) and other reasons (headache and dizziness) in 2 (9.5%). One third of patients appeared to have normal blood gases, spirometry and nocturnal parameters while the remaining 66,7% had impaired lung function. The impaired lung function test was just the nocturnal cardiorespiratory monitoring in one patient (5%), just the spirometry in two patients (10%), blood gases and nocturnal cardiorespiratory monitoring in one patient (5%), blood gases and spirometry in three patients (15%), spirometry and nocturnal cardiorespiratory monitoring in three patients (15%), all three tests in 4 patients (20%). Of the 14 subjects with impaired respiratory function 9 had a so severe situation to met the criteria for NIV. Only four of the 21 patients properly interrogated reported symptoms suggestive of impaired lung function. One of these patients had no impairment of lung function. Conclusions: We enrolled 21 DM1 patients in three years. Probably the incidence of DM1 in our region is significantly higher than expected according to the literature. The majority of the patients enrolled had evidence of impaired lung function. No significant relationships were found between subjective complaints, clinical-demographic features and respiratory compromission (p>0.005). Timely recognition of a respiratory compromission may lead to improved survival and quality of life by the application of non-invasive ventilatory support. Importance of monitoring respiratory function in patients with DM1 is designed to avoid emergency procedures such as intubation. In relation to the heterogeneity of respiratory involvement features, all the three pneumological tests should be performed in all DM1 patients from the time of diagnosis. The guidelines regarding the indication for NIV don't take into account the differences that exist between the various neuromuscular diseases, is therefore necessary to draw up specific guidelines for each neuromuscular disease and in particular for DM1.
Pires, Maria do Rosário dos Santos Monteiro Borges. "Distrofia miotónica tipo 1 : revisão da literatura e caso clínico." Master's thesis, 2015. http://hdl.handle.net/10451/25825.
Full textA distrofia miotónica (DM) é uma doença de transmissão autossómica dominante causada por expansão instável de repetições nucleotídicas, com envolvimento multiorgânico progressivo (sistemas músculo-esquelético, cardiovascular, respiratório, gastrointestinal, endócrino, nervoso e visual). Existem duas formas de DM identificadas. A distrofia miotónica tipo 1 ou doença de Steinert tem 4 subtipos de apresentação (congénita, infantil/juvenil, adulta/clássica e tardia) e é causada pela expansão do tripleto CTG no gene DMPK. A distrofia miotónica tipo 2, também conhecida por miopatia miotónica proximal, é causada pela expansão de CCTG no gene CNBP, e tem um fenótipo extremamente variável sem subgrupos identificáveis. Após revisão da literatura sobre a distrofia miotónica tipo 1 é apresentado um caso clínico ilustrativo de distrofia miotónica tipo 1 congénita.
Myotonic dystrophy is a disease with autosomal dominant transmission caused by an unstable nucleotide repeat expansion and progressive multiorganic involvement (skeletal, cardiac, respiratory, gastrointestinal, endocrine, nervous and ocular systems). To date, two distinctive forms have been identified. Myotonic distrophy type 1 or Steinert’s disease is caused by a CTG expansion in DMPK gene. DM1 may present in four diferent forms: congenital, early childood, adult onset and late onset. Myotonic dystrophy type 2, also known as proximal myotonic myopathy, is caused by a CCTG expansion in CNBP gene with a clinical phenotype extremely variable and no distinct clinical subgroups. After reviewing the literature about myotonic distrophy type 1, it is presented a case of congenital myotonic dystrophy.