Results 61 to 70 of about 3,828 (168)

Frequency and Circumstances of Falls Events in People Living With Spinal and Bulbar Muscular Atrophy: A Cross‐Sectional Survey

Physiotherapy Research International, Volume 31, Issue 4, October 2026.
ABSTRACT Background and Purpose Spinal and bulbar muscular atrophy (SBMA) is an adult‐onset X‐linked neuromuscular disorder associated with progressive weakness, sensory involvement and impaired mobility. Falls appear frequent in SBMA, but their real‐world frequency and circumstances have not been systematically described.
Laurence E. Lee, Luca Zampedri, Dipa Jayaseelan, Carlo Rinaldi, Pietro Fratta, Gita M. Ramdharry   +5 more
wiley   +1 more source

A Pediatric Review of Facioscapulohumeral Muscular Dystrophy [PDF]

Journal of Pediatric Neurology, 2017
AbstractFacioscapulohumeral dystrophy is one of the most common forms of muscular dystrophies worldwide. It is a complex and heterogeneous disease secondary to insufficient epigenetic repression of D4Z4 repeats and aberrant expression of DUX4 in skeletal muscles.
Jean K, Mah, Yi-Wen, Chen
openaire   +2 more sources

Diagnostic utility of inflammatory markers in formalin‐fixed and paraffin‐embedded muscle biopsies for idiopathic inflammatory myopathies

Histopathology, Volume 89, Issue 4, Page 699-709, October 2026.
Formalin‐fixed, paraffin‐embedded (FFPE) muscle tissue supports robust immunohistochemical detection of MHC II, MxA, and p62 with performance comparable to frozen sections. This approach reliably identifies the pathological signatures of inclusion body myositis, dermatomyositis, immune‐mediated necrotizing myopathy, and overlap myositis, enhancing the ...
Chinnawut Suriyonplengsaeng, Jariya Waisayarat   +1 more
wiley   +1 more source

Refining Shoulder Diagnostics: A Technical Note on Scapular Physical Examination

Arthroscopy Techniques, Volume 15, Issue 9, September 2026.
Abstract Normal scapulothoracic function relies on a delicate balance among several periscapular muscles and is essential for shoulder motion. Disturbance in this balance can lead to abnormal motion, which can impair shoulder function, leading to pain and discomfort.
Farah Selman, Nicholas Peter James Perry, Diego J. Restrepo, David Coleman, Joaquin Sanchez‐Sotelo   +4 more
wiley   +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

Genomic analysis of facioscapulohumeral muscular dystrophy [PDF]

Briefings in Functional Genomics and Proteomics, 2003
The genomic basis of facioscapulohumeral muscular dystrophy (FSHD) is of considerable interest because of the unique nature of the molecular mutation, which is a deletion within a large, complex DNA tandem array (D4Z4). This repeat maps within 30 kb of the 4q telomere.
Jannine, Clapp, Daniel J, Bolland, Jane E, Hewitt   +2 more
openaire   +2 more sources

With Regard to the Expression Status of Sarcolemmal Aquaporin 4 in Human Muscular Dystrophies

Neurology and Clinical Neuroscience, Volume 14, Issue 5, Page 354-361, September 2026.
ABSTRACT Human muscular dystrophies are inherited muscle‐wasting diseases caused by the various kinds of gene mutations. Among them, Duchenne muscular dystrophy (DMD) is a representative type. Before the discovery of the causative dystrophin gene of DMD, the fragile myofiber plasma membrane was thought to be the trigger of myofiber necrosis in DMD ...
Yoshihiro Wakayama, Takahiro Jimi
wiley   +1 more source

Drug treatment for facioscapulohumeral muscular dystrophy [PDF]

Cochrane Database of Systematic Reviews, 2000
Facioscapulohumeral muscular dystrophy is a progressive muscle disease which has no agreed treatment. Early suggestions that corticosteroids might be helpful were not supported by a subsequent open label study. The beta 2 adrenergic agonist albuterol, also known as salbutamol, is known to have anabolic effects which might be beneficial for ...
M R, Rose, R, Tawil
openaire   +2 more sources

Quantitative Guanidinium CEST‐Based pH Mapping at 3 T in Healthy and Pathological Muscle

NMR in Biomedicine, Volume 39, Issue 8, August 2026.
Chemical exchange saturation transfer (CEST) enables high‐resolution pH mapping by measuring the exchange rate between guanidinium and water protons. The current method is based on the Z‐spectra fitting with Bloch–McConnell (BM) equations and allows us to detect pH variations on the order of 0.02 pH units in the very restrained pathophysiological pH ...
Valentin Henriet, Pierre‐Yves Baudin, Benjamin Marty, Marc Lapert, Harmen Reyngoudt   +4 more
wiley   +1 more source

Beevor's sign in facioscapulohumeral muscular dystrophy [PDF]

BMJ Case Reports, 2014
The Beevor's sign is one of the classic neurological learning signs taught to medical students. It is elicited by asking a supine patient to attempt to get up by raising the head and keeping the arms crossed over the chest, while a marker (a clinical hammer) is kept at the level of the umbilicus to detect the movement of the umbilicus.
Chandramohan, Sharma, Mihir, Acharya, Banshi Lal, Kumawat, Kunal, Nath   +3 more
openaire   +2 more sources