Updates on Facioscapulohumeral Muscular Dystrophy (FSHD)

AXY Chin, ZX Quak, YC Chan, AML Quek… - … Treatment Options in …, 2024 - Springer
Purpose of review This review aims to provide a summary of the pathophysiology, clinical
presentation and management options for facioscapulohumeral dystrophy (FSHD). We …

An exploration of the agreement, inter-and intra-rater reliability, and reproducibility of three common methods used to measure minimum toe clearance with optical …

S Carter - Gait & Posture, 2024 - Elsevier
Background The gait variable minimum toe clearance (MTC) has been investigated
concerning trip-related fall research in older adults. However, comparing studies is difficult …

Video-based biomechanical analysis captures disease-specific movement signatures of different neuromuscular diseases

P Ruth, SD Uhlrich, C de Monts, A Falisse, S Covitz… - bioRxiv, 2024 - biorxiv.org
Assessing human movement is essential for diagnosing and monitoring movement-related
conditions. Timed function tests (TFTs) are among the most widespread assessments due to …

Muscular Dystrophy: Mutations in the Dystrophin Gene

A Agarwal, K Verma, S Tyagi, K Gupta… - Mechanism and Genetic …, 2024 - Springer
Muscular dystrophy (MD) is a heterogeneous group of genetic disorders characterized by
progressive muscle degeneration and weakness, leading to significant morbidity and …