scholarly journals Results from an external proficiency testing program: 11 years of molecular genetics testing for myotonic dystrophy type 1

2016 ◽  
Vol 18 (12) ◽  
pp. 1290-1294 ◽  
Author(s):  
C. Sue Richards ◽  
◽  
Glenn E. Palomaki ◽  
Madhuri Hegde
Keyword(s):  
Molecular Genetics ◽  
Myotonic Dystrophy ◽  
Proficiency Testing ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Testing Program

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.

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

scholarly journals What Happened with Muscle Force, Dynamic Stability And Falls?- a 10-Year Longitudinal Follow-Up in Adults with Myotonic Dystrophy Type 1

2021 ◽  
pp. 1-10
Author(s):  
Elisabet Hammarén ◽  
Lena Kollén
Keyword(s):  
Myotonic Dystrophy ◽  
Dynamic Stability ◽  
Muscle Force ◽  
Step Test ◽  
Maximum Speed ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Patient Reported ◽  
Leg Muscle

Background: Individuals with myotonic dystrophy type 1 (DM1) are known to stumble and fall, but knowledge is scarce regarding dynamic stability in this disorder. Objective: To describe disease progress regarding muscle force, dynamic stability and patient reported unintentional falls during a ten-year period, in individuals with DM1. Methods: Quantification of isometric muscle force in four leg muscle groups and assessment of Timed 10-meter-walk in maximum speed (T10max), Timed Up&Go (TUG) and Step test (STEP) were performed at three occasions in a DM1 cohort, together with self-reported falls. Results: Thirty-four people (m/f:11/23, age:50.2 + /–9.4) participated. The muscle force loss after ten years was large in the distal ankle muscles. A steeper force decrease was seen in most muscles between year five and ten compared to the former five-year period. Males reported more falls than females, 91%vs 35%had fallen last year. A positive correlation, ρ= 0.633, p <  0.001, was shown between walking time (T10max) and number of falls. Frequent fallers were only seen among those with slower walk (T10max >  10seconds), and fewer steps in the STEP test (STEP≤5 steps). Conclusions: A diminishing leg muscle strength and worse dynamic stability were seen in the group, with a steeper decrease in the latter five years. Weak ankle dorsiflexors, a slower walk and difficulties to lift the forefoot were related to frequent falls.

scholarly journals Cognitive Deficits Associated with Sleep Apnea in Myotonic Dystrophy Type 1

2014 ◽  
Vol 1 (1) ◽  
pp. 95-98 ◽  
Author(s):  
Benjamin Gallais ◽  
Cynthia Gagnon ◽  
Jean Mathieu ◽  
Louis Richer ◽  
Stéphane Jean ◽  
...  
Keyword(s):  
Sleep Apnea ◽  
Myotonic Dystrophy ◽  
Cognitive Deficits ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type
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