scholarly journals The impact of parental unaffected allele combination on the diagnostic outcome in the preimplantation genetic testing for myotonic dystrophy type 1 in Japanese ancestry

2020 ◽  
Vol 19 (3) ◽  
pp. 265-269
Author(s):  
Hiroshi Senba ◽  
Kou Sueoka ◽  
Suguru Sato ◽  
Nobuhiko Higuchi ◽  
Yuki Mizuguchi ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Preimplantation Genetic Testing ◽  
The Impact ◽  
Japanese Ancestry ◽  
Diagnostic Outcome ◽  
Allele Combination

scholarly journals Molecular Genetics and Genetic Testing in Myotonic Dystrophy Type 1

2013 ◽  
Vol 2013 ◽  
pp. 1-13 ◽  
Author(s):  
Dušanka Savić Pavićević ◽  
Jelena Miladinović ◽  
Miloš Brkušanin ◽  
Saša Šviković ◽  
Svetlana Djurica ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Molecular Genetics ◽  
Myotonic Dystrophy ◽  
Age At Onset ◽  
Gender Effect ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Ctg Repeats ◽  
Parental Gender

Myotonic dystrophy type 1 (DM1) is the most common adult onset muscular dystrophy, presenting as a multisystemic disorder with extremely variable clinical manifestation, from asymptomatic adults to severely affected neonates. A striking anticipation and parental-gender effect upon transmission are distinguishing genetic features in DM1 pedigrees. It is an autosomal dominant hereditary disease associated with an unstable expansion of CTG repeats in the 3′-UTR of theDMPKgene, with the number of repeats ranging from 50 to several thousand. The number of CTG repeats broadly correlates with both the age-at-onset and overall severity of the disease. Expanded DM1 alleles are characterized by a remarkable expansion-biased and gender-specific germline instability, and tissue-specific, expansion-biased, age-dependent, and individual-specific somatic instability. Mutational dynamics in male and female germline account for observed anticipation and parental-gender effect in DM1 pedigrees, while mutational dynamics in somatic tissues contribute toward the tissue-specificity and progressive nature of the disease. Genetic test is routinely used in diagnostic procedure for DM1 for symptomatic, asymptomatic, and prenatal testing, accompanied with appropriate genetic counseling and, as recommended, without predictive information about the disease course. We review molecular genetics of DM1 with focus on those issues important for genetic testing and counseling.

scholarly journals Effect and impact of mechanical ventilation in myotonic dystrophy type 1: a prospective cohort study

Thorax ◽  
2018 ◽  
Vol 73 (11) ◽  
pp. 1075-1078 ◽  
Author(s):  
Ghilas Boussaïd ◽  
Hélène Prigent ◽  
Pascal Laforet ◽  
Jean-Claude Raphaël ◽  
Djillali Annane ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Proportional Hazards Model ◽  
Cox Proportional Hazards Model ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Invasive Ventilation ◽  
Risk Of Death ◽  
Home Ventilation ◽  
The Impact

Few studies have assessed the impact of home ventilation in patients with myotonic dystrophy type 1 (DM1) and no specific recommendations are available. We assessed the survival associated with category of home ventilation adherence of patients with DM1 followed up at a home ventilation unit using a Cox proportional hazards model. 218 patients were included; those who refused or delayed their acceptance of non-invasive ventilation were at higher risk for severe events (invasive ventilation or death) (P=0.03). Risk of death was associated with orthopnoea (HR 2.37; 95% CI 1.17 to 4.80; P<0.02) and adherence category (100 to 90% vs >75%: HR 3.26; 95% CI 1.32 to 8.04; P<0.03). Failure to use home ventilation as prescribed may be associated with increased mortality in patients with DM1.

scholarly journals Development of a Genomic DNA Reference Material Panel for Myotonic Dystrophy Type 1 (DM1) Genetic Testing

2013 ◽  
Vol 15 (4) ◽  
pp. 518-525 ◽  
Author(s):  
Lisa Kalman ◽  
Jack Tarleton ◽  
Monica Hitch ◽  
Madhuri Hegde ◽  
Nick Hjelm ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Reference Material ◽  
Myotonic Dystrophy ◽  
Genomic Dna ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

SEVERE CONGENITAL MYOTONIC DYSTROPHY TYPE 1

2018 ◽  
Vol 97 (1) ◽  
pp. 78-81
Author(s):  
E.A. Mamaeva ◽  
◽  
L.A. Fedorova ◽  
S.E. Voronovich ◽  
V.D. Nazarov ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Congenital Myotonic Dystrophy
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