Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders

Frontiers in Neurology
Alayne P MeyerW David Arnold

Abstract

Introduction: Inherited myotonic disorders are genetically heterogeneous and associated with overlapping clinical features of muscle stiffness, weakness, and pain. Data on genotype-phenotype correlations are limited. In this study, clinical features and treatment patterns in genetically characterized myotonic disorders were compared. Methods: A retrospective chart review was completed in patients with genetic variants in CLCN1, SCN4A, DMPK, and CNBP to document clinical signs and symptoms, clinical testing, and antimyotonia medication use. Results: A total of 142 patients (27 CLCN1, 15 SCN4A, 89 DMPK, and 11 CNBP) were reviewed. The frequency of reported symptoms (stiffness, weakness, and pain) and electromyographic spontaneous activity were remarkably similar across genotypes. Most patients were not treated with antimyotonia agents, but those with non-dystrophic disorders were more likely to be on a treatment. Discussion: Among the features reviewed, we did not identify clinical or electrophysiological differences to distinguish CLCN1- and SCN4A-related myotonia. Weakness and pain were more prevalent in non-dystrophic disorders than previously identified. In addition, our results suggest that medical treatments in myotonic dis...Continue Reading

References

Oct 1, 1995·Current Opinion in Neurology·F Lehmann-Horn, R Rüdel
Mar 31, 2007·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Chad R Heatwole, Richard T Moxley
Dec 11, 2007·Muscle & Nerve·Timothy M Miller
Mar 14, 2008·European Journal of Human Genetics : EJHG·Jeroen TripIeke B Ginjaar
Feb 13, 2009·Journal of Neurology, Neurosurgery, and Psychiatry·J TripC G Faber
Nov 18, 2009·Brain : a Journal of Neurology·E MatthewsUNKNOWN CINCH Investigators
Dec 22, 2011·Journal of Biomedicine & Biotechnology·Chih-Yung Tang, Tsung-Yu Chen
Oct 4, 2012·JAMA : the Journal of the American Medical Association·Jeffrey M StatlandUNKNOWN Consortium for Clinical Investigation of Neurologic Channelopathies
Mar 22, 2013·Neurology·Alejandro HorgaMichael G Hanna
Mar 29, 2013·Muscle & Nerve·Chad R HeatwoleEric L Logigian
Jun 19, 2013·Brain : a Journal of Neurology·Jaya R TrivediUNKNOWN CINCH Consortium
Dec 24, 2013·Experimental Neurology·Jaya R TrivediRobert C Griggs
Jul 20, 2014·Neurologic Clinics·Charles A Thornton
Aug 15, 2014·Current Opinion in Neurology·Chris Turner, David Hilton-Jones
Feb 3, 2016·Frontiers in Pharmacology·Gildas LoussouarnFlavien Charpentier
Jan 13, 2017·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Giovanni Meola, Rosanna Cardani
Sep 25, 2017·Handbook of Experimental Pharmacology·Stephen C Cannon
Oct 21, 2017·Brain : a Journal of Neurology·Grete AndersenJohn Vissing
Dec 12, 2018·JAMA : the Journal of the American Medical Association·Bas C StunnenbergGert Jan van der Wilt

❮ Previous
Next ❯

Citations

Dec 17, 2020·Journal of Neuromuscular Diseases·Jean-François DesaphyBertrand Fontaine

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.

Related Papers

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
G Meola, Valeria A Sansone
Handbook of Clinical Neurology
Frank Lehmann-Horn, Karin Jurkat-Rott
© 2021 Meta ULC. All rights reserved