Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders
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 characterize...
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Frontiers Media S.A.
2020-06-01
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| Series: | Frontiers in Neurology |
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| Online Access: | https://www.frontiersin.org/article/10.3389/fneur.2020.00593/full |
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| author | Alayne P. Meyer Jennifer Roggenbuck Samantha LoRusso John Kissel Rachel M. Smith David Kline W. David Arnold |
| author_facet | Alayne P. Meyer Jennifer Roggenbuck Samantha LoRusso John Kissel Rachel M. Smith David Kline W. David Arnold |
| author_sort | Alayne P. Meyer |
| collection | DOAJ |
| description | 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 disorders may be under-utilized. |
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| id | doaj.art-21d6034152dd44de90e0943bd5ac6c6d |
| institution | Directory Open Access Journal |
| issn | 1664-2295 |
| language | English |
| last_indexed | 2024-12-10T20:13:24Z |
| publishDate | 2020-06-01 |
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| spelling | doaj.art-21d6034152dd44de90e0943bd5ac6c6d2022-12-22T01:35:15ZengFrontiers Media S.A.Frontiers in Neurology1664-22952020-06-011110.3389/fneur.2020.00593517889Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic DisordersAlayne P. Meyer0Jennifer Roggenbuck1Samantha LoRusso2John Kissel3Rachel M. Smith4David Kline5W. David Arnold6Division of Human Genetics, The Ohio State University, Columbus, OH, United StatesDivision of Human Genetics, The Ohio State University, Columbus, OH, United StatesDepartment of Neurology, The Ohio State University, Columbus, OH, United StatesDepartment of Neurology, The Ohio State University, Columbus, OH, United StatesDepartment of Biomedical Informatics, Center for Biostatistics, The Ohio State University, Columbus, OH, United StatesDepartment of Biomedical Informatics, Center for Biostatistics, The Ohio State University, Columbus, OH, United StatesDepartment of Neurology, The Ohio State University, Columbus, OH, United StatesIntroduction: 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 disorders may be under-utilized.https://www.frontiersin.org/article/10.3389/fneur.2020.00593/fullmyotoniachannelopathiesinheritedtreatmentgenotype-phenotypemyotonic dystrophy |
| spellingShingle | Alayne P. Meyer Jennifer Roggenbuck Samantha LoRusso John Kissel Rachel M. Smith David Kline W. David Arnold Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders Frontiers in Neurology myotonia channelopathies inherited treatment genotype-phenotype myotonic dystrophy |
| title | Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders |
| title_full | Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders |
| title_fullStr | Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders |
| title_full_unstemmed | Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders |
| title_short | Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders |
| title_sort | genotype phenotype correlations and characterization of medication use in inherited myotonic disorders |
| topic | myotonia channelopathies inherited treatment genotype-phenotype myotonic dystrophy |
| url | https://www.frontiersin.org/article/10.3389/fneur.2020.00593/full |
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