Cardiac Manifestations in Myotonic Dystrophy Type 1 Patients Followed Using a Standard Protocol in a Specialized Unit

2013 ◽  
Vol 66 (3) ◽  
pp. 193-197
Author(s):  
María Facenda-Lorenzo ◽  
Julio Hernández-Afonso ◽  
Marcos Rodríguez-Esteban ◽  
Juan C. de León-Hernández ◽  
José J. Grillo-Pérez
2021 ◽  
Vol 22 (21) ◽  
pp. 11874
Author(s):  
Mani S. Mahadevan ◽  
Ramesh S. Yadava ◽  
Mahua Mandal

Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy affecting adults and children, is a multi-systemic disorder affecting skeletal, cardiac, and smooth muscles as well as neurologic, endocrine and other systems. This review is on the cardiac pathology associated with DM1. The heart is one of the primary organs affected in DM1. Cardiac conduction defects are seen in up to 75% of adult DM1 cases and sudden death due to cardiac arrhythmias is one of the most common causes of death in DM1. Unfortunately, the pathogenesis of cardiac manifestations in DM1 is ill defined. In this review, we provide an overview of the history of cardiac studies in DM1, clinical manifestations, and pathology of the heart in DM1. This is followed by a discussion of emerging data about the utility of cardiac magnetic resonance imaging (CMR) as a biomarker for cardiac disease in DM1, and ends with a discussion on models of cardiac RNA toxicity in DM1 and recent clinical guidelines for cardiologic management of individuals with DM1.


2012 ◽  
Vol 160 (2) ◽  
pp. 82-88 ◽  
Author(s):  
Helle Petri ◽  
John Vissing ◽  
Nanna Witting ◽  
Henning Bundgaard ◽  
Lars Køber

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

2021 ◽  
pp. 1-10
Author(s):  
Elisabet Hammarén ◽  
Lena Kollén

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.


Sign in / Sign up

Export Citation Format

Share Document