scholarly journals Fuchs' Endothelial Corneal Dystrophy in Patients With Myotonic Dystrophy, Type 1

2018 ◽  
Vol 59 (7) ◽  
pp. 3053 ◽  
Author(s):  
Nelson S. Winkler ◽  
Margherita Milone ◽  
Jennifer M. Martinez-Thompson ◽  
Harish Raja ◽  
Ross A. Aleff ◽  
...  
Keyword(s):  
Myotonic Dystrophy ◽  
Corneal Dystrophy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type

Dual corneal involvement by endothelial and epithelial corneal dystrophies in Steinert’s disease: A case of triple dystrophy

2019 ◽  
pp. 112067211987237
Author(s):  
Amparo Gargallo-Benedicto ◽  
Vicente Tomás Pérez-Torregrosa ◽  
Rodrigo Clemente-Tomás ◽  
Antonio Miguel Duch-Samper
Keyword(s):  
Basement Membrane ◽  
Myotonic Dystrophy ◽  
Anterior Segment ◽  
Corneal Dystrophy ◽  
Specular Microscopy ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Epithelial Basement Membrane ◽  
Epithelial Basement

Introduction: A case of dual corneal involvement due to Fuchs endothelial corneal dystrophy and epithelial basement membrane corneal dystrophy in a patient with Steinert’s myotonic dystrophy type 1 is described, and a literature review on the triple association is made. Case description: A 52-year-old male diagnosed with myotonic dystrophy type 1 presented due to progressive bilateral vision loss during the past year. A full ophthalmological evaluation was made, with biomicroscopy, funduscopy, anterior segment optical coherence tomography, and endothelial cell count using specular microscopy. Exploration revealed bilateral superior palpebral ptosis, visual acuity 0.5 in the right eye and 0.3 in the left eye, and with an intraocular pressure of 11 and 10 mmHg, respectively. Biomicroscopy revealed map-dot-fingerprint lesions characteristic of epithelial basement membrane corneal dystrophy in both eyes, as well as abundant endothelial guttae due to Fuchs endothelial corneal dystrophy (stage II) and bilateral nuclear and posterior subcapsular cataracts. Specular microscopy in turn showed cell loss and a destructured endothelial map. Finally, anterior segment optical coherence tomography revealed the accumulation of epithelial basement membrane and hyperreflective endothelial excrescences corresponding to guttae. Conclusion: The association of Fuchs endothelial corneal dystrophy with myotonic dystrophy has been described and explained by a common genetic basis in the expansion of a CTG trinucleotide repeat, though this is the first reported case of the triple association of Fuchs endothelial corneal dystrophy, epithelial basement membrane corneal dystrophy, and myotonic dystrophy type 1. New mutations or still unknown genetic alterations could possibly explain the triple association reported in our case.

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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