Results 91 to 100 of about 20,235 (200)

Clinically Suspected Myotonic Dystrophy in Sub‐Saharan Africa: A Rare Case Report Highlighting Rehabilitation Challenges

Clinical Case Reports, Volume 14, Issue 8, August 2026.
ABSTRACT Myotonic dystrophy is an autosomal dominant multisystem disorder rarely reported in sub‐Saharan Africa. We report a 30‐year‐old Ethiopian female with progressive weakness, myotonia, positive family history, and characteristic electromyography findings. As there is no curative treatment, management is supportive. This case highlights its rarity
Abraham Sisay Abie, Sisay Gizaw, Tesfaye Berhe, Behaylu Yibe, Tamrat Petros Elias   +4 more
wiley   +1 more source

Epilepsy characteristics in patients with muscle‐eye‐brain disease: A systematic review of electroclinical features

Epileptic Disorders, Volume 28, Issue 4, Page 1007-1020, August 2026.
Abstract Background and Objectives Muscle‐Eye‐Brain disease (MEB) is a dystroglycanopathy that belongs to the congenital muscular dystrophies. Central nervous system manifestations include congenital brain abnormalities, neurodevelopmental delay, and epilepsy, making it a rare but important cause of developmental and epileptic encephalopathy.
Stefania Kalampokini, Evripidis Pityrigkas, Eleni Liouta, Georgia Pepe, Vasiliki Poulidou, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Downstream Pathways of Dystrophin Deficiency in Duchenne Muscular Dystrophy: Implications for Muscle Degeneration and Regeneration

Journal of Cachexia, Sarcopenia and Muscle, Volume 17, Issue 4, August 2026.
ABSTRACT Background Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy, primarily affecting skeletal muscle and leading to premature death. Although the loss of dystrophin has long been recognised as the primary cause of the disease, no definitive cure is currently available. As a consequence, therapeutic efforts
Raffaele Epis, Gabriele Rovetta, Giulia Ferrari, Chiara Bonfanti, Giorgia Careccia, Graziella Messina   +5 more
wiley   +1 more source

Congenital Muscular Dystrophy Due to Merosin Deficiency: Report of a New Mutation. [PDF]

Cureus, 2023
Herrera Malpica WS, Ortiz-Corredor F, Sanchez Peñarete D, Muñetones Hernández PV.   +3 more
europepmc   +1 more source

Expanding the Genotypic Spectrum of POMGNT1‐Related Muscle‐Eye‐Brain Disease: A Case Report

Molecular Genetics &Genomic Medicine, Volume 14, Issue 8, August 2026.
Compound heterozygous variants in the POMGNT1 gene expand the genotypic spectrum of Muscle‐Eye‐Brain disease, highlighting severe epilepsy with status epilepticus. Despite long disease duration, seizure freedom was achieved with intensive antiseizure polytherapy, underscoring the importance of continued therapeutic optimization in dystroglycanopathies.
Evripidis Pityrigkas, Vasiliki Poulidou, Stefania Kalampokini, Eleni Liouta, Georgia Pepe, Martha Spilioti, Vasilios K. Kimiskidis   +6 more
wiley   +1 more source

Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy. [PDF]

J Vet Intern Med, 2023
Jankelunas L, Murthy VD, Chen AV, Minor KM, Friedenberg SG, Cullen JN, Guo LT, Mickelson JR, Shelton GD.   +8 more
europepmc   +1 more source

The Swedish National Pediatric Cataract Register (PECARE): Coexisting systemic disorders 2007–2023

Acta Ophthalmologica, Volume 104, Issue 5, Page 510-516, August 2026.
Abstract Purpose To analyse the frequency and type of coexisting systemic disorders in children operated on for cataract in Sweden. Methods Data were retrieved from the Swedish National Pediatric Cataract Register (PECARE) for children operated between January 1, 2007, and December 31, 2023 (n = 975), including follow‐ups at age 1, 2, 5 and 10 ...
David Wackerberg, Jenny Gyllén, Birgitte Haargaard, Alf Nyström, Arzu Karatepe Hashas, Anna Linnarsson Wiklund, Eric Trocmé, Ulrika Kjellström, Kristina Tornqvist, Gunilla Magnusson   +9 more
wiley   +1 more source

Disproportional ventilatory response to incremental exercise in individuals with cerebral palsy

Developmental Medicine &Child Neurology, Volume 68, Issue 8, Page 1139-1151, August 2026.
Individuals with cerebral palsy demonstrate a disproportionate ventilatory response during incremental exercise. Compared with typically developing peers, respiratory frequency increases earlier and at comparable exercise intensities, contributing to higher perceived exertion and reduced ventilatory efficiency. At task failure, respiratory frequency is
Linnéa Corell, Emma Hjalmarsson, Rodrigo Fernandez‐Gonzalo, Annika Kruse, Sebastian Edman, Asta Kizyte, Rouli Wang, Arnoud Edelman Bos, Peder Sörensson, Eva Pontén, Petra E. M. van Schie, Annemieke I. Buizer, Jessica Norrbom, Daniele A. Cardinale, Ferdinand von Walden   +14 more
wiley   +1 more source

Feasibility of an Adapted Participatory Group Programme for Caregivers of Children With Complex Neurodisability in the United Kingdom: Results From the Encompass‐2 Study

Health Expectations, Volume 29, Issue 4, August 2026.
ABSTRACT Introduction ‘Encompass’ is a participatory group‐based intervention originating from low‐ and middle‐income countries, co‐developed with parents and professionals to enhance the well‐being, health literacy and empowerment of caregivers of young children with complex neurodisability.
Kirsten Prest, Kirsten Barnicot, Catherine Hurt, Cally J. Tann, Michelle Heys, Angela Harden   +5 more
wiley   +1 more source

Spontaneous mutation in the COL6A2 gene causing Ullrich congenital muscular dystrophy type 1 in a Chinese child: A case report. [PDF]

Medicine (Baltimore), 2023
Li J, Lin S, Wu Q, Feng J, Chen Q, Jiang K.   +5 more
europepmc   +1 more source