Results 41 to 50 of about 6,556 (183)

The Nondystrophic Myotonias

Neurotherapeutics, 2007
The nondystrophic myotonias are a heterogeneous set of rare diseases that demonstrate clinical myotonia, electrical myotonia, or both. These disorders are distinguished from myotonic dystrophy type 1 (DM-1), the more recently described proximal myotonic myopathy/myotonic dystrophy type 2 (PROMM/DM-2), and proximal myotonic dystrophy (a variant of DM-2)
Chad R, Heatwole, Richard T, Moxley
openaire   +2 more sources

Senolytics and exercise: Dual modalities for rejuvenating muscle

The Journal of Physiology, EarlyView.
Abstract figure legend The role of senolytics on the heart and skeletal muscle. Senescent cell burden increases with ageing, disuse and disease. The senolytics dasatinib+quercetin (D+Q), navitoclax and fisetin, as well as exercise, eliminate senescent cells, reducing senescent cell burden and their senescence‐associated secretory phenotype (SASP ...
Zeynep Elif Yesilyurt‐Dirican, Ce Qi, Uchenna Okpechi, Maya Strand Ford, Georgina M. Ellison‐Hughes   +4 more
wiley   +1 more source

Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita

Frontiers in Genetics
Myotonia congenita, both in a dominant (Thomsen disease) and recessive form (Becker disease), is caused by molecular defects in CLCN1 that encodes the major skeletal muscle chloride channel, ClC-1.
Sabrina Lucchiari, Francesco Fortunato, Giovanni Meola, Andrea Mignarri, Serena Pagliarani, Stefania Corti, Stefania Corti, Giacomo P. Comi, Giacomo P. Comi, Dario Ronchi, Dario Ronchi   +10 more
doaj   +1 more source

Evaluation of Human-Induced Pluripotent Stem Cells Derived from a Patient with Schwartz–Jampel Syndrome Revealed Distinct Hyperexcitability in the Skeletal Muscles

Biomedicines, 2023
Schwartz–Jampel syndrome (SJS) is an autosomal recessive disorder caused by loss-of-function mutations in heparan sulfate proteoglycan 2 (HSPG2), which encodes the core basement membrane protein perlecan.
Yuri Yamashita, Satoshi Nakada, Kyoko Nakamura, Hidetoshi Sakurai, Kinji Ohno, Tomohide Goto, Yo Mabuchi, Chihiro Akazawa, Nobutaka Hattori, Eri Arikawa-Hirasawa   +9 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 1953-1972, September 2026.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 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, Jin-fu LIN, Cheng ZHANG, Xin-jing ZHONG, Xue-ling CHEN, Jing LI, Yu-ling ZHU   +6 more
doaj  

Clinical features of muscle stiffness in 37 dogs with concurrent naturally occurring hypercortisolism

Journal of Veterinary Internal Medicine, 2023
Background Severe muscle stiffness (SMS) in dogs with hypercortisolism (HC) is uncommon. Objectives To evaluate signalment, presentation, treatments, and long‐term outcomes of dogs with concurrent HC and SMS. Animals Thirty‐seven dogs.
Stefania Golinelli, Federico Fracassi, Ezio Bianchi, Álan Gomes Pöppl, Diego Daniel Miceli, Leontine Benedicenti, Viviani De Marco, Audrey K. Cook, Laura Espada Castro, Ian Ramsey, Kyoung Won Seo, Carlo Cantile, Gualtiero Gandini, Sean E. Hulsebosch, Edward C. Feldman   +14 more
doaj   +1 more source

Muscle Strength, Balance, and Indoor Mobility in Oculopharyngeal Muscular Dystrophy: An Exploratory Canadian Multicenter Study

Muscle &Nerve, Volume 74, Issue 3, Page 656-668, September 2026.
ABSTRACT Introduction/Aims Oculopharyngeal muscular dystrophy (OPMD) is a neuromuscular disease presenting with dysphagia, ptosis, and proximal weakness. Muscle strength and indoor mobility capacity have rarely been studied using standardized clinical outcome assessments (COAs). The objectives of this study were to (1) document muscle strength, balance,
Nicolas Bélair, Jean‐Denis Brisson, Bernard Brais, Xavier Rodrigue, Hanns Lochmüller, Luc J. Hébert, Jessica MacGregor, Brenda Dennison, Isabelle Lessard, Isabelle Côté, Elise Duchesne, Cynthia Gagnon   +11 more
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies

Frontiers in Neurology, 2020
Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in ...
Fernando Morales, Michael Pusch
doaj   +1 more source