Results 51 to 60 of about 10,373 (189)
A mechanical engineer cannot open his fist - myotonia congenita [PDF]
, 2017 Myotonia congenita is a rare congenital neurological disorder, not encountered by many physicians in their clinical practice. Two types are described Thomsen and Becker.
Bhavana, Raman +1 more
core +1 more source
Muscle hypertrophy in myotonia congenita [PDF]
Journal of Neurology, Neurosurgery & Psychiatry, 2003 A 28 year old male presented to our neurology service with stiffness of a few years’ duration in all muscles. The stiffness was maximum at the onset of exercise and his muscles loosened up after some time. He had no difficulty in releasing his grip after holding an object. He had very well developed muscles in spite …
B, Varkey, L, Varkey
openaire +2 more sources
A 73‐Year‐Old Man With Several Years of Difficulty Climbing Stairs and Frequent Tripping
Annals of Clinical and Translational Neurology, Volume 13, Issue 5, Page 1078-1083, May 2026.ABSTRACT A 73‐year‐old man presented with progressive weakness and atrophy predominantly affecting the distal finger flexors and quadriceps muscles. Electrophysiological studies demonstrated mixed myogenic and neurogenic features. Muscle MRI showed inflammatory changes, and muscle biopsy revealed granulomatous myositis with histologic features ...
Mehmet Can Sari +3 more
wiley +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.We developed and implemented a 500‐gene panel for phenotype‐driven genetic testing of Mendelian disorders in South Africa's public healthcare system, achieving a 46% diagnostic yield. This platform supports scalable, cost‐effective rare disease diagnosis and lays the foundation for broader genetic services in resource‐limited settings.
Nadia Carstens +3 more
wiley +1 more source
Treatment of Becker myotonia congenita with lamotrigine: one case report and review of literatures
Chinese Journal of Contemporary Neurology and Neurosurgery, 2019 Objective To report the efficacy and safety of lamotrigine in the treatment of one case of Becker myotonia congenita. Methods and Results A 17-year-old male had muscle stiffness in the limbs as the first symptom, which could be alleviated after repeated ...
Jie ZHONG +6 more
doaj
Efficacy of Retigabine in Treating Weakness in a Mouse Model of Hypokalemic Periodic Paralysis
Muscle &Nerve, Volume 73, Issue 4, Page 663-667, April 2026.ABSTRACT Introduction/Aims Hypokalemic periodic paralysis (HypoKPP) is an ion channelopathy causing episodic skeletal muscle weakness triggered by hypokalemia. Reduced inward rectifier K+ (Kir) channel activity contributes to membrane depolarization and paralysis, suggesting that pharmacologic activation of muscle K+ channels may restore excitability ...
Kirsten Denman, Mark M. Rich
wiley +1 more source
The prevalence of hereditary neuromuscular disorders in Northern Norway
Brain and Behavior, 2021 Aim To investigate the point prevalence of hereditary neuromuscular disorders on January 1, 2020 in Northern Norway. Methods From January 1, 1999, until January 1, 2020, we screened medical and genetic hospital records in Northern Norway for hereditary ...
Kai Ivar Müller +4 more
doaj +1 more source
Can Prenatal Ultrasound and Genetic Testing Reliably Exclude Non‐Isolated Clubfoot?
Prenatal Diagnosis, Volume 46, Issue 1, Page 30-38, January 2026.ABSTRACT Objective The aim of this study is to evaluate the efficacy of prenatal second trimester ultrasound in diagnosing isolated congenital clubfoot and to assess the role of prenatal genetic testing. Methods We conducted a retrospective cohort study in the North‐West region of the Netherlands with prenatally suspected clubfoot between 16 and 24 ...
Jana M. de Vries +7 more
wiley +1 more source
Discovery and Treatment of Action Potential‐Independent Myotonia in Hyperkalemic Periodic Paralysis
Annals of Clinical and Translational Neurology, Volume 12, Issue 10, Page 2056-2067, October 2025.ABSTRACT Objective Hyperkalemic periodic paralysis (hyperKPP) is characterized by attacks of transient weakness. A subset of hyperKPP patients suffers from transient involuntary contraction of muscle (myotonia). The goal of this study was to determine mechanisms causing myotonia in hyperKPP.
Chris Dupont +4 more
wiley +1 more source