Muscle dystrophy type 1 is the most common form of muscular dystrophy and is characterized by progressive distal dominant muscle weakness, muscle atrophy, and myotonic phenomena. Patients with progressive neuromuscular diseases such as myotonic dystrophy type 1 are prone to muscle weakness, movement disorders, and fatigue due to their underlying disease, which may limit their physical activity and ambulation. Six courses of gait training with a hybrid assistive limb (HAL) were performed in an adult male with myotonic dystrophy type 1 over 4.5 years. The two-minute walking distance and knee joint strength tended to increase, and the Timed Up and Go test time tended to decrease with gait training with HAL before and after each intervention. In the long term, the two-minute walking distance decreased slowly, but the Timed Up and Go and knee joint strength tended to be maintained. Functional ambulation category and activities of daily living levels were also maintained. These results suggest that intermittent gait training may be an effective rehabilitation method for maintaining gait independence and activities of daily living in patients with myotonic dystrophy type 1. The frequency and number of interventions should be considered for further effectiveness.
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http://dx.doi.org/10.7759/cureus.71030 | DOI Listing |
J Cell Biol
March 2025
Department of Pulmonary Medicine, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.
Epithelial cells can become polyploid upon tissue injury, but mechanosensitive cues that trigger this state are poorly understood. Using an Madin Darby Canine Kidney (MDCK) cell knock-out/reconstitution system, we show that α-catenin mutants that alter force-sensitive binding to F-actin or middle (M)-domain promote cytokinesis failure and binucleation, particularly near epithelial wound-fronts. We identified Leucine Zipper Tumor Suppressor 2 (LZTS2), a factor previously implicated in abscission, as a conformation sensitive proximity partner of α-catenin.
View Article and Find Full Text PDFCornea
January 2025
Department of Ophthalmology, University of Washington, Seattle, WA.
Purpose: To evaluate associations between sociodemographic factors and surgical management in patients with Fuchs Endothelial Corneal Dystrophy (FECD).
Methods: Patients >40 years old with FECD diagnosis and subsequent corneal edema between 2007 and 2020 were identified from the American Academy of Ophthalmology IRIS Registry (Intelligent Research in Sight). Multivariable Cox proportional hazards models were fit to examine the relationships between sociodemographic variables and time from FECD diagnosis to penetrating keratoplasty (PK) and endothelial keratoplasty (EK)/PK.
Muscle Nerve
January 2025
Faculty of Health Sciences, Kobe Tokiwa University, Kobe, Japan.
Introduction: A 20 kDa fragment at the N-terminus of titin is highly excreted in the urine of patients with Duchenne muscular dystrophy (DMD), making urine titin a prominent biomarker for muscle breakdown. This N-terminal fragment is presumed to be a product of degradation by a protein-degrading enzyme, calpain 3; however, whether calpain 3 is required remains unclear. We aimed to determine whether urine titin elevation occurs in the absence of calpain 3.
View Article and Find Full Text PDFClin Case Rep
January 2025
Craig R Dufresne Fairfax Virginia USA.
Freeman-Burian syndrome is a rare craniofacial syndrome surrounded by fake news. This situation shows the strong connection between the quality of a literature search and clinical reasoning displayed in patient care, especially in care of patients with rare conditions.
View Article and Find Full Text PDFJ Neurol
January 2025
John Walton Muscular Dystrophy Research Centre, Newcastle University, Newcastle-upon-Tyne, UK.
PROPEL (ATB200-03; NCT03729362) compared the efficacy and safety of cipaglucosidase alfa plus miglustat (cipa + mig), a two-component therapy for late-onset Pompe disease (LOPD), versus alglucosidase alfa plus placebo (alg + pbo). The primary endpoint was change in 6-min walk distance (6MWD) from baseline to week 52. During PROPEL, COVID-19 interrupted some planned study visits and assessment windows, leading to delayed visits, make-up assessments for patients who missed ≥ 3 successive infusions before planned assessments at weeks 38 and 52, and some advanced visits (end-of-study/early-termination visits).
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