Myotonic Dystrophy
What's New
Last Posted: May 30, 2024
- Maternal cell contamination in postnatal umbilical cord blood samples implies a low risk for genetic misdiagnoses.
Sanne P Smeekens et al. Prenat Diagn 2024 - Diagnosis and Management of Myotonic Dystrophy Type 1
J Hartman et al, JAMA March 11, 2024 - Cancer and Myotonic Dystrophy.
Eleonora S D'Ambrosio et al. Journal of clinical medicine 2023 12(5) - Reproductive choices and intrafamilial communication in neurogenetic diseases with different self-estimated severities.
Pierron Lucie et al. Journal of medical genetics 2022 - Characterization of full-length CNBP expanded alleles in myotonic dystrophy type 2 patients by Cas9-mediated enrichment and nanopore sequencing.
Alfano Massimiliano et al. eLife 2022 11 - [Increased use of genetic health care in Iceland 2012-2017].
Hognason Hakon Bjorn et al. Laeknabladid 2021 108(1) 11-16 - Myotonic Dystrophy at a Glance
Myotonic Dystrophy Foundation, September 15,2021 - Myotonic Dystrophy
CDC, 2021 - Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy.
van As Daniël et al. Journal of neuromuscular diseases 2021 - Population Based Prevalence of Myotonic Dystrophy Type 1 Using Genetic Analysis of State-wide Blood Screening Program.
Johnson Nicholas E et al. Neurology 2021 Jan - Electrocardiographic predictors of infrahissian conduction disturbances in myotonic dystrophy type 1.
Joosten Isis B T et al. Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology 2020 Nov - The impact of parental unaffected allele combination on the diagnostic outcome in the preimplantation genetic testing for myotonic dystrophy type 1 in Japanese ancestry.
Senba Hiroshi et al. Reproductive medicine and biology 2020 Jul 19(3) 265-269 - Evaluating the Diagnostic and Prognostic Value of Biomarkers for Heart Disease and Major Adverse Cardiac Events in Patients With Muscular Dystrophy.
Nikhanj Anish et al. European heart journal. Quality of care & clinical outcomes 2020 Jul - Recent advances in molecular therapies for neurological disease: triplet repeat disorders.
Gonzalez-Alegre Pedro et al. Human molecular genetics 2019 28(R1) R80-R87 - Clinical Care Recommendations for Cardiologists Treating Adults With Myotonic Dystrophy.
McNally Elizabeth M et al. Journal of the American Heart Association 2020 Feb 9(4) e014006 - [Current status of the predictive genetic testing for hereditary neurological diseases in Shinshu University Hospital].
Tanaka Keiko et al. Rinsho shinkeigaku = Clinical neurology 2013 53(3) 196-204 - Family communication following a diagnosis of myotonic dystrophy: To tell or not to tell?
Taylor Shelby et al. Journal of genetic counseling 2019 Aug - Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotyping Following Whole-Genome Amplification.
Lian Mulias et al. Frontiers in genetics 2019 10589 - Living with Muscular Dystrophy
CDC, 2019 - New pharmacotherapies for genetic neuromuscular disorders: opportunities and challenges.
Ricci Federica et al. Expert review of clinical pharmacology 2019 Jun - The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
De Antonio Marie et al. Orphanet journal of rare diseases 2019 Jun 14(1) 122 - Clinical guide for the diagnosis and follow-up of myotonic dystrophy type 1, MD1 or Steinert's disease.
Gutiérrez Gutiérrez G et al. Neurologia (Barcelona, Spain) 2019 Apr - A Nationwide, Population-Based Prevalence Study of Genetic Muscle Disorders.
Theadom Alice et al. Neuroepidemiology 2019 Jan 52(3-4) 128-135 - Survival Patterns and Cancer Determinants in Families with Myotonic Dystrophy Type I.
Best Ana et al. European journal of neurology 2018 Jul - Preimplantation Genetic Diagnosis for Myotonic Dystrophy Type 1 and Analysis of the Effect of the Disease on the Reproductive Outcome of the Affected Female Patients.
Fernández Raquel María et al. BioMed research international 2017 20179165363 - ETHICAL AND GENETIC ASPECTS REGARDING PRESYMPTOMATIC TESTING FOR NEURODEGENERATIVE DISEASES.
Rev Med Chir Soc Med Nat Iasi. 2016 Jan-Mar;120(1):15-22. - Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1.
Richards C Sue et al. Genetics in medicine : official journal of the American College of Medical Genetics 2016 Jun - A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
Dai Yi et al. Neuromuscul. Disord. 2015 Mar 17. - Follow-up nationwide survey on predictive genetic testing for late-onset hereditary neurological diseases in Japan.
- Congenital myotonic dystrophy
From NCATS Genetic and Rare Diseases Information Center
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Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
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