Results 111 to 120 of about 27,308 (243)

Co-occurrence of tethered cord syndrome and cervical spine instability in hypermobile Ehlers-Danlos syndrome

Frontiers in Neurology
The Ehlers-Danlos Syndromes (EDS) represent a group of hereditary connective tissue disorders, with the hypermobile subtype (hEDS) being the most prevalent.
Cortney Gensemer, Cortney Gensemer, Victoria Daylor, Jared Nix, Russell A. Norris, Russell A. Norris, Sunil Patel   +6 more
doaj   +1 more source

Prevalence of MTHFR Polymorphisms in Patients With Hypermobile Ehlers‐Danlos Syndrome and Hypermobile Spectrum Disorders in a US Hypermobility Clinic

ACR Open Rheumatology
Objective Hypermobile Ehlers‐Danlos syndrome (hEDS) and hypermobility spectrum disorders (HSD) are characterized by joint hypermobility, joint subluxations and dislocations, hyperextensible skin, and chronic and progressive multiorgan comorbidities ...
Jacques Courseault, Meenakshi Umar, Patrick Bordnick, Jocelyn Simons, Milla Volic, Allison Stock, Gregory Bix   +6 more
doaj   +1 more source

HYPERMOBILITY ‐ NOT A CIRCUS ACT

International Journal of Clinical Practice, 2000
SUMMARYJoint hypermobility results from genetic variations in connective tissue matrix proteins resulting in stretchier tissues. For many it is an asset that confers greater facility for physical prowess. Others, less fortunate, fall prey to the associated effects of tissue fragility.
openaire   +2 more sources

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1378-1383, June 2026.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Expanding the Evaluation of Skeletal Anomalies in Patients With KBG Syndrome: Recommendations for Clinical Practice

American Journal of Medical Genetics Part A, Volume 200, Issue 6, Page 1306-1314, June 2026.
ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij, Emilie de Groot, Eleonora Orlandini, Willemijn M. Klein, Charlotte W. Ockeloen, Joyce M. Geelen   +5 more
wiley   +1 more source

Presentation and physical therapy management using a neuroplasticity approach for patients with hypermobility-related upper cervical instability: a brief report

Frontiers in Neurology
BackgroundUpper cervical instability (UCI) is a potentially disabling complication of the connective tissue disorders hypermobile Ehlers-Danlos Syndrome and Hypermobility Spectrum Disorders (hEDS/HSD).
Susan Chalela, Susan Chalela, Leslie N. Russek, Leslie N. Russek   +3 more
doaj   +1 more source

Advances in Erectile Dysfunction Management: What Does Work

Trends in Urology &Men's Health, Volume 17, Issue 3, June 2026.
ABSTRACT Erectile dysfunction (ED) is a prevalent and multifactorial disorder that substantially affects quality of life. Pathophysiology includes vascular, neurogenic, drug‐induced, and psychogenic causes, and frequently coexists with cardiometabolic disease.
Jolie Shen, Daye Park, Jasper Bash, Juan Andino   +3 more
wiley   +1 more source

Hypermobility [PDF]

Proceedings of the Royal Society of Medicine, 1971
  +5 more sources

The Postural Tachycardia Syndrome (POTS): Pathophysiology, Diagnosis & Management [PDF]

, 2006
Postural tachycardia syndrome (POTS), characterized by orthostatic tachycardia in the absence of orthostatic hypotension, has been the focus of increasing clinical interest over the last 15 years 1. Patients with POTS complain of symptoms of tachycardia,
Raj, Satish R
core   +1 more source

Axial length, myopia progression, and myopic maculopathy in Stickler syndrome

Acta Ophthalmologica, Volume 104, Issue 4, Page 423-430, June 2026.
Abstract Purpose We lack knowledge on the potentially progressive nature of and the prevalence of complications to myopia as a characteristic trait of Stickler syndrome. Methods This cross‐sectional study combines ophthalmic examination and medical record data on Danish patients with genetically confirmed Stickler syndrome type 1 (COL2A1) and type 2 ...
Kirstine B. Boysen, Mette Bertelsen, Nanna D. Rendtorff, Stense Farholt, Line Kessel   +4 more
wiley   +1 more source