Swallowing impairments in Amyotrophic Lateral Sclerosis and Myotonic Dystrophy type 1: Looking for the portrait of dysphagic patient in neuromuscular diseases

2018 ◽  
Vol 42 (1) ◽  
pp. 93-102 ◽  
Author(s):  
Elisa Andrenelli ◽  
Federica Lucia Galli ◽  
Rosaria Gesuita ◽  
Edlira Skrami ◽  
Francesco Ottavio Logullo ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Myotonic Dystrophy ◽  
Neuromuscular Diseases ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Dysphagic Patient ◽  
Lateral Sclerosis

scholarly journals A patient with myotonic dystrophy diagnosed after experiencing sudden respiratory failure: a case report

2020 ◽  
Vol 6 (1) ◽  
Author(s):  
Noriaki Nishihara ◽  
Shunsuke Tachibana ◽  
Hajime Sonoda ◽  
Michiaki Yamakage
Keyword(s):  
Respiratory Failure ◽  
Myotonic Dystrophy ◽  
Delayed Diagnosis ◽  
Neuromuscular Diseases ◽  
Acute Onset ◽  
Myotonic Dystrophy Type 1 ◽  
Myotonic Dystrophy Type ◽  
Case Presentation ◽  
Multiple Organs

Abstract Background Myotonic dystrophy is a disorder affecting multiple organs including skeletal muscles and causes respiratory failure. We describe a patient who developed respiratory failure, with delayed diagnosis of myotonic dystrophy type 1 as the cause. Case presentation A 62-year-old woman developed acute onset of dyspnea after showing hypertension and tachycardia and was transported to our hospital. On arrival at our institution, SpO2 was 80% with a non-rebreather mask. With a diagnosis of acute phase heart failure, she underwent tracheal intubation. However, weaning from the respirator was difficult in the intensive care unit (ICU). A detailed interview revealed that her brother was affected with myotonic dystrophy type 1. She was also diagnosed with myotonic dystrophy type 1 by a genetic test. Conclusions Taking a careful past and family history and prompt genetic testing is required on suspicion of neuromuscular diseases in a patient with respiratory failure by an unknown cause.

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.

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