This study explores the single-cell transcriptomics of TAZ-deficient murine corneal endothelium in the context of Fuchs Endothelial Corneal Dystrophy (FECD), a polygenic disease affecting millions globally. The research utilizes a TAZ-deficient mouse model to mimic late-onset FECD, revealing reduced

2 views • 39 slides

This informative document discusses the classification of neuromuscular disorders, focusing on muscle and muscle membrane disorders such as Muscular Dystrophy. It delves into the characteristics, pathology, and clinical presentations of different types of muscular dystrophies, including Duchenne and

0 views • 42 slides

Myotonic dystrophy is a multisystem genetic disorder that can affect individuals at different stages of life, from infants to adults. It presents with various symptoms such as muscle weakness, myotonia, cognitive and behavioral issues, respiratory problems, and more. The disease progression and mani

0 views • 38 slides

Myotonic dystrophy presents challenges in respiratory and sleep function. The condition can lead to pulmonary complications, such as ineffective cough, pneumonia, and respiratory failure, making proactive management crucial. Treatment strategies include vaccinating against infections, utilizing vent

0 views • 10 slides

Develop an intuitive hand orthosis to support individuals with Duchenne Muscular Dystrophy (DMD). The project aims to enhance active hand support through high-tech, multi-DOF orthoses designed by a team of researchers focusing on control strategies, functional development, and integration with exist

0 views • 9 slides

Explore the significance of exercise for individuals with Facioscapulohumeral Muscular Dystrophy (FSHD) through research findings and therapeutic strategies. Delve into topics like active aging, functional capacity, cognitive-behavioral therapy effects, and more to optimize health and well-being for

0 views • 20 slides

Explore the etiological classification of cataracts, focusing on metabolic and complicated types such as diabetic cataracts, galactosemia-related cataracts, myotonic dystrophy-related cataracts, and hypocalcaemic cataracts. Learn about distinct morphological subtypes, pathophysiology, and specific c

0 views • 31 slides

Explore the genetic basis of Myotonic Dystrophy, including trinucleotide repeat expansions in the DMPK and CNBP genes, leading to impaired gene function and symptoms. Learn about autosomal dominant inheritance and the phenomenon of anticipation in symptom severity.

0 views • 15 slides

Using a client-centered and multidisciplinary approach, rehabilitation for Myotonic Dystrophy focuses on addressing personal factors, physical therapy, occupational therapy, and enhancing mobility. The rehab team aims to improve health outcomes and quality of life by addressing personal care, mobili

0 views • 19 slides

Comprehensive overview of respiratory care in Facioscapulohumeral Muscular Dystrophy (FSHD) based on the American Academy of Neurology guidelines. Covers incidence of respiratory insufficiency, assessment of lung function, treatment options including noninvasive ventilation, and strategies for maint

0 views • 16 slides