Myotonic dystrophy type 1: 13 years of experience at a tertiary hospital. Clinical and epidemiological study and genotype-phenotype correlation

Neurología (English Edition) - Tập 38 - Trang 530-540 - 2023
J.P. Sánchez Marín1, P. Sienes Bailo1, R. Lahoz Alonso1, J.L. Capablo Liesa2, J. Gazulla Abio2,3, J.A. Giménez Muñoz4, P.J. Modrego Pardo2, B. Pardiñas Barón2, S. Izquierdo Álvarez5
1Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, Zaragoza, Spain
2Servicio de Neurología, Hospital Universitario Miguel Servet, Zaragoza, Spain
3Neurología, Centro Médico de Especialidades Ramón y Cajal, Zaragoza, Spain
4Neurología, Hospital Royo Villanova, Zaragoza, Spain
5Sección de Genética Clínica, Servicio de Bioquímica Clínica, Hospital Universitario Miguel Servet, Zaragoza, Spain

Tài liệu tham khảo

Fernández-Torrón, 2017, Miotonías distróficas, 417

Kamsteeg, 2012, Best practice guidelines and recommendations on the molecular diagnosis of myotonic dystrophy types 1 and 2, Eur J Hum Genet., 20, 1203, 10.1038/ejhg.2012.108

Ranum, 2004, Myotonic dystrophy: RNA pathogenesis comes into focus, Am J Hum Genet., 74, 793, 10.1086/383590

Tomé, 2020, DM1 phenotype variability and triplet repeat instability: challenges in the development of new therapies, Int J Mol Sci., 21, 457, 10.3390/ijms21020457

Hermans, 2013, Fatigue and daytime sleepiness scale in myotonic dystrophy type 1, Muscle Nerve., 47, 89, 10.1002/mus.23478

Bugiardini, 2014, Consensus on cerebral involvement in myotonic dystrophy: workshop report: May 24-27, 2013, Ferrere (AT), Italy, Neuromuscul Disord., 24, 445, 10.1016/j.nmd.2014.01.013

Gomes, 2014, Cardiovascular profile in myotonic dystrophy type 1: analysis of a case series in a specialized center, Rev Port Cardiol., 33, 765, 10.1016/j.repc.2014.06.003

Sansone, 2015, 207th ENMC Workshop on chronic respiratory insufficiency in myotonic dystrophies: management and implications for research, 27-29 June 2014, Naarden, The Netherlands, Neuromuscul Disord., 25, 432, 10.1016/j.nmd.2015.01.011

Wahbi, 2020, Cardiovascular manifestations of myotonic dystrophy, Trends Cardiovasc Med., 30, 232, 10.1016/j.tcm.2019.06.001

Smith, 2016, Myotonic dystrophy type 1 management and therapeutics, Curr Treat Options Neurol., 18, 52, 10.1007/s11940-016-0434-1

Petty, 2019, The prevalence of faecal incontinence in myotonic dystrophy type 1, Neuromuscul Disord., 29, 562, 10.1016/j.nmd.2019.05.009

Vitiello, 2020, Eye involvement in patients with myotonic dystrophy, Neurologia., 35, 674, 10.1016/j.nrl.2019.10.004

Gaszynski, 2016, Opioid-free general anesthesia in patient with Steinert syndrome (myotonic dystrophy): case report, Medicine (Baltimore)., 95, 10.1097/MD.0000000000004885

Wenninger, 2018, Core clinical phenotypes in myotonic dystrophies, Front Neurol., 9, 303, 10.3389/fneur.2018.00303

Pagola-Lorz, 2019, Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region, Orphanet J Rare Dis., 14, 276, 10.1186/s13023-019-1227-x

Joosten, 2020, Parental repeat length instability in myotonic dystrophy type 1 pre- and protomutations, Eur J Hum Genet., 10.1038/s41431-020-0601-4

Mladenovic, 2006, Epidemiology of myotonic dystrophy type 1 (Steinert disease) in Belgrade (Serbia), Clin Neurol Neurosurg, 108, 757, 10.1016/j.clineuro.2006.04.004

Lindberg, 2017, Prevalence of myotonic dystrophy type 1 in adults in western Sweden, Neuromuscul Disord., 27, 159, 10.1016/j.nmd.2016.12.005

Pan, 2001, Haplotype analysis of the myotonic dystrophy type 1 (DM1) locus in Taiwan: implications for low prevalence and founder mutations of Taiwanese myotonic dystrophy type 1, Eur J Hum Genet., 9, 638, 10.1038/sj.ejhg.5200684

Ambrose, 2017, Analysis of CTG repeat length variation in the DMPK gene in the general population and the molecular diagnosis of myotonic dystrophy type 1 in Malaysia, BMJ Open., 7, 10.1136/bmjopen-2015-010711

Hagerman, 2019, The myotonic dystrophy experience: a North American cross-sectional study, Muscle Nerve., 59, 457, 10.1002/mus.26420

Turner, 2010, The myotonic dystrophies: diagnosis and management, J Neurol Neurosurg Psychiatry., 81, 358, 10.1136/jnnp.2008.158261

Overend, 2019, Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes, Hum Mol Genet., 28, 2245, 10.1093/hmg/ddz055

Barbé, 2017, CpG methylation, a parent-of-0rigin effect for maternal-biased transmission of congenital myotonic dystrophy, Am J Hum Genet., 100, 488, 10.1016/j.ajhg.2017.01.033

Ashizawa, 2018, Consensus-based care recommendations for adults with myotonic dystrophy type 1, Neurol Clin Pract., 8, 507, 10.1212/CPJ.0000000000000531

Hilbert, 2017, High frequency of gastrointestinal manifestations in myotonic dystrophy type 1 and type 2, Neurology., 89, 1348, 10.1212/WNL.0000000000004420

Armendáriz-Cuevas, 2010, [Myotonic dystrophy. 18 years experience in a neuropaediatric clinic], An Pediatr (Barc)., 72, 133, 10.1016/j.anpedi.2009.09.019

Stokes, 2019, Clinical and genetic characteristics of childhood-onset myotonic dystrophy, Muscle Nerve., 60, 732, 10.1002/mus.26716