Results 71 to 80 of about 57,206 (164)

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Annals of Clinical and Translational Neurology, Volume 13, Issue 6, Page 1129-1140, June 2026.
ABSTRACT Objective To characterize whole‐body intramuscular fat distribution pattern in patients with sarcoglycanopathies and explore correlations with disease severity, duration and age at onset. Methods Retrospective, cross‐sectional, multicentric study enrolling patients with variants in one of the four sarcoglycan genes who underwent whole‐body ...
Laura Costa‐Comellas, Mauro Monforte, Angel Sanchez‐Montañez, Penélope Romero‐Duque, Elena Pegoraro, Jordi Díaz‐Manera, Dmitry Vlodavets, Lorenzo Maggi, Marco Moscatelli, Adele D‘Amico, Montse Olivé, Jorge Alonso‐Pérez, Giacomo Comi, José Miguel Escudero‐Fernández, Gabriela S. Urcuyo, Anna Pichiecchio, Angela Berardinelli, Kristl G. Claeys, Claudio Bruno, Chiara Panicucci, Sara Bortolani, Eleonora Torchia, Enzo Ricci, Soledad Monges, Jorge A. Bevilacqua, Jorge Diaz‐Jara, Maggie C. Walter, Simone Thiele, Nicoline Løkken, John Vissing, Susana Quijano‐Roy, Robert Y. Carlier, Nicol C. Voermans, Chiara Marini‐Bettolo, Michela Guglieri, Volker Straub, Lea Leonardis, Francina Munell, David Gómez‐Andrés, Giorgio Tasca   +39 more
wiley   +1 more source

Electrical Impedance Myography Detects Disease Progression over 12 to 24 Months in Facioscapulohumeral Muscular Dystrophy

Annals of Neurology, Volume 99, Issue 6, Page 1545-1554, June 2026.
Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul, Michael P. McDermott, Russell J. Butterfield, Bakri Elsheikh, Kate Eichinger, Nicholas E. Johnson, Doris G. Leung, Samantha LoRusso, Leann Lewis, William B. Martens, Perry B. Shieh, Leo H. Wang, Michaela Walker, Rabi Tawil, Jeffrey M. Statland, ReSolve Investigators of the FSHD‐CTRN, Jeffrey Statland, Mazen Dimachkie, Constantine Farmakidis, Mamantha Pasnoor, Duaa Jabari, Omar Jawdat, Melissa Currence, Sandhya Sasidharan, Kiley Higgs, Michaela Walker, Rebecca Clay, Rabi Tawil, Johanna Hamel, Kate Eichinger, Leann Lewis, Samantha LoRusso, Bakri Elsheikh, W. David Arnold, Kristina Kelly, Marco Tellez, Leo H. Wang, Matthew K Preston, Catherine Kieu, Aliya Shabbir, Russell Butterfield, Clark Moser, Melissa McIntyre, Amelia Wilson, Sarah Moldt, Katheryn Wagner, Doris Leung, Andrea Jaworek, Nikia Stinson, Mary Yep, Perry Shieh, Christy Skura, Jennifer Huynh, Nicholas Johnson, Amanda Butler, Aileen Jones, Jodie Howell, Karlien Mul, Valeria Sansone, Elena Carraro, Valentina Franchino, Erica DiNatale, Michael Nani, Sabrina Sacconi, Luisa Villa, Giulia Tammam, Jeremy Garcia, Manuela Gambella, Sandray Ayari   +68 more
wiley   +1 more source

Balance and walking in facioscapulohumeral muscular dystrophy: multiperspective assessment

, 2012
BACKGROUND: In the Facioscapulohumeral muscular dystrophy (FSHD), the association of ankle muscle impairment with knee, hip and abdominal weakness causes complex alterations of static (postural) and dynamic (walking) balance, increasing the risk of ...
Padua, Luca, Ricci, Enzo, Frusciante, Roberto, Aprile, Irene Giovanna   +3 more
core  

Facioscapulohumeral Muscular Dystrophy

Facioscapulohumeral (FSH) muscular dystrophy is the third most common dystrophy, after myotonic dystrophy and the dystrophinopathies (Duchenne and Becker), with a prevalence of approximately 1 in 20,000.
Benatar, Michael
core   +1 more source

Inheritance of a 38 kb fragment in an apparently sporadic case of facioscapulohumeral muscular dystrophy (FSHD)

, 1999
Facioscapulohumeral dystrophy (FSHD) is an autosomal-dominant muscular disorder associated with a short ...
Guazzi, Giancarlo, Villanova, Marcello, Vitelli, Francesca, Merlini, Luciano, Malandrini, Alessandro, Bruttini, Mirella, Renieri, Alessandra, Piccini, Monica   +7 more
core   +1 more source

Molecular diagnosis of facioscapulohumeral muscular dystrophy [review]

, 2002
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited neuromuscular disorder after Duchenne muscular dystrophy and myotonic dystrophy.
Upadhyaya, Meena, Cooper, David Neil
core   +1 more source

Symptomatic treatment in facioscapulohumeral dystrophy (FSHD): a case study

Medycyna Paliatywna
Facioscapulohumeral dystrophy (FSHD) represents the third most prevalent form of muscular dystrophy observed in the adult population, exhibiting an overall incidence of over 1 in 10,000 individuals.
Magdalena Bitner-Bieleszuk
doaj   +1 more source

Combined Lumbar-Sacral Plexus Block in Facioscapulohumeral Muscular Dystrophy for Hip Fracture Surgery: A Case Report

Turkish Journal of Anaesthesiology and Reanimation
Facioscapulohumeral muscular dystrophy (FSHD) is a muscular dystrophy that can affect individuals of all age groups. Its prevalence is reported to be 0.4-1 in 10,000 people. Because of the low occurrence of FSHD, anaesthetic management is primarily based
Mete Manici, İlayda Kalyoncu, Cemil Cihad Gedik, Mehmet Ali Deveci, Yavuz Gürkan   +4 more
doaj   +1 more source

The relative frequency of common neuromuscular diagnoses in a reference center

Arquivos de Neuro-Psiquiatria
The diagnostic procedure in neuromuscular patients is complex. Knowledge of the relative frequency of neuromuscular diseases within the investigated population is important to allow the neurologist to perform the most appropriate diagnostic tests ...
Ana Cotta, Júlia Filardi Paim, Elmano Carvalho, Antonio Lopes da-Cunha-Júnior, Monica M. Navarro, Jaquelin Valicek, Miriam Melo Menezes, Simone Vilela Nunes, Rafael Xavier-Neto, Sidney Baptista Junior, Luciano Romero Lima, Reinaldo Issao Takata, Antonio Pedro Vargas   +12 more
doaj   +1 more source

Elderly Onset of Weakness in Facioscapulohumeral Muscular Dystrophy

Case Reports in Neurological Medicine, 2012
A 77-year-old male is presented. He had onset of proximal weakness 10 years earlier. His course was slowly progressive. Despite having phenotypic features of facioscapulohumeral muscular dystrophy (FSH), genetic testing for this was delayed because of ...
Dominic B. Fee
doaj   +1 more source