Muscle phenotype in patients with myotonic dystrophy type 1
Introduction: The pathogenesis of muscle involvement in patients with myotonic dystrophy type 1 (DM1) is not well understood. In this study, we characterized the muscle phenotype in patients with confirmed DM1. Methods: In 38 patients, muscle strength was tested by hand‐held dynamometry. Myotonia wa...
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| Veröffentlicht in: | Muscle & nerve 2013-03, Vol.47 (3), p.409-415 |
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| creator | Andersen, Grete Ørngreen, Mette C. Preisler, Nicolai Colding-J⊘rgensen, Eskild Clausen, Torben Duno, Morten Jeppesen, Tina D. Vissing, John |
| description | Introduction: The pathogenesis of muscle involvement in patients with myotonic dystrophy type 1 (DM1) is not well understood. In this study, we characterized the muscle phenotype in patients with confirmed DM1. Methods: In 38 patients, muscle strength was tested by hand‐held dynamometry. Myotonia was evaluated by a handgrip test and by analyzing the decrement of the compound muscle action potential. Muscle biopsies were assessed for morphological changes and Na+‐K+ pump content. Results: Muscle strength correlated with a decline in Na+‐K+ pump content (r = 0.60, P < 0.001) and with CTG expansion. CTG expansion did not correlate with severity of myotonia, proximal histopathological changes, or Na+‐K+ pump content. Histopathologically, we found few centrally placed nuclei (range 0.2–6.9%). Conclusions: The main findings of this study are that muscle weakness correlated inversely with CTG expansion and that central nuclei are not a prominent feature of proximal muscles in DM1. Muscle Nerve 47:409‐415, 2013 |
| doi_str_mv | 10.1002/mus.23535 |
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In this study, we characterized the muscle phenotype in patients with confirmed DM1. Methods: In 38 patients, muscle strength was tested by hand‐held dynamometry. Myotonia was evaluated by a handgrip test and by analyzing the decrement of the compound muscle action potential. Muscle biopsies were assessed for morphological changes and Na+‐K+ pump content. Results: Muscle strength correlated with a decline in Na+‐K+ pump content (r = 0.60, P < 0.001) and with CTG expansion. CTG expansion did not correlate with severity of myotonia, proximal histopathological changes, or Na+‐K+ pump content. Histopathologically, we found few centrally placed nuclei (range 0.2–6.9%). Conclusions: The main findings of this study are that muscle weakness correlated inversely with CTG expansion and that central nuclei are not a prominent feature of proximal muscles in DM1. Muscle Nerve 47:409‐415, 2013</description><identifier>ISSN: 0148-639X</identifier><identifier>EISSN: 1097-4598</identifier><identifier>DOI: 10.1002/mus.23535</identifier><identifier>PMID: 23169601</identifier><identifier>CODEN: MUNEDE</identifier><language>eng</language><publisher>United States: Blackwell Publishing Ltd</publisher><subject>Adolescent ; Adult ; Aged ; Aging - physiology ; Binding Sites ; Biopsy ; Electromyography ; Female ; Genotype & phenotype ; Hand Strength - physiology ; Humans ; Male ; Middle Aged ; Muscle Strength ; Muscle Strength Dynamometer ; Muscle Weakness - pathology ; Muscle, Skeletal - pathology ; Muscular dystrophy ; Muscular system ; myotonia ; Myotonia - pathology ; Myotonic Dystrophy - genetics ; Myotonic Dystrophy - pathology ; myotonic dystrophy type 1 ; Na+-K+ pump content ; Ouabain - metabolism ; phenotype ; Sodium-Potassium-Exchanging ATPase - genetics ; Sodium-Potassium-Exchanging ATPase - metabolism ; Trinucleotide Repeats ; vastus lateralis muscle biopsy ; Young Adult</subject><ispartof>Muscle & nerve, 2013-03, Vol.47 (3), p.409-415</ispartof><rights>Copyright © 2012 Wiley Periodicals, Inc., a Wiley company</rights><rights>Copyright © 2012 Wiley Periodicals, Inc., a Wiley company.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3915-c1c931c844eacf8b398e96a010ac49c4904d656dda6cacd86059e55a197839f43</citedby><cites>FETCH-LOGICAL-c3915-c1c931c844eacf8b398e96a010ac49c4904d656dda6cacd86059e55a197839f43</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmus.23535$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmus.23535$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>315,781,785,1418,27929,27930,45579,45580</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23169601$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Andersen, Grete</creatorcontrib><creatorcontrib>Ørngreen, Mette C.</creatorcontrib><creatorcontrib>Preisler, Nicolai</creatorcontrib><creatorcontrib>Colding-J⊘rgensen, Eskild</creatorcontrib><creatorcontrib>Clausen, Torben</creatorcontrib><creatorcontrib>Duno, Morten</creatorcontrib><creatorcontrib>Jeppesen, Tina D.</creatorcontrib><creatorcontrib>Vissing, John</creatorcontrib><title>Muscle phenotype in patients with myotonic dystrophy type 1</title><title>Muscle & nerve</title><addtitle>Muscle Nerve</addtitle><description>Introduction: The pathogenesis of muscle involvement in patients with myotonic dystrophy type 1 (DM1) is not well understood. In this study, we characterized the muscle phenotype in patients with confirmed DM1. Methods: In 38 patients, muscle strength was tested by hand‐held dynamometry. Myotonia was evaluated by a handgrip test and by analyzing the decrement of the compound muscle action potential. Muscle biopsies were assessed for morphological changes and Na+‐K+ pump content. Results: Muscle strength correlated with a decline in Na+‐K+ pump content (r = 0.60, P < 0.001) and with CTG expansion. CTG expansion did not correlate with severity of myotonia, proximal histopathological changes, or Na+‐K+ pump content. Histopathologically, we found few centrally placed nuclei (range 0.2–6.9%). Conclusions: The main findings of this study are that muscle weakness correlated inversely with CTG expansion and that central nuclei are not a prominent feature of proximal muscles in DM1. Muscle Nerve 47:409‐415, 2013</description><subject>Adolescent</subject><subject>Adult</subject><subject>Aged</subject><subject>Aging - physiology</subject><subject>Binding Sites</subject><subject>Biopsy</subject><subject>Electromyography</subject><subject>Female</subject><subject>Genotype & phenotype</subject><subject>Hand Strength - physiology</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>Muscle Strength</subject><subject>Muscle Strength Dynamometer</subject><subject>Muscle Weakness - pathology</subject><subject>Muscle, Skeletal - pathology</subject><subject>Muscular dystrophy</subject><subject>Muscular system</subject><subject>myotonia</subject><subject>Myotonia - pathology</subject><subject>Myotonic Dystrophy - genetics</subject><subject>Myotonic Dystrophy - pathology</subject><subject>myotonic dystrophy type 1</subject><subject>Na+-K+ pump content</subject><subject>Ouabain - metabolism</subject><subject>phenotype</subject><subject>Sodium-Potassium-Exchanging ATPase - genetics</subject><subject>Sodium-Potassium-Exchanging ATPase - metabolism</subject><subject>Trinucleotide Repeats</subject><subject>vastus lateralis muscle biopsy</subject><subject>Young Adult</subject><issn>0148-639X</issn><issn>1097-4598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2013</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kMtKw0AUQAdRbK0u_AEJuNFF2rmdRzK4kqJVaRW0RXEzTCdTmpqXmYSavzfpayEIF-7m3MPlIHQOuAsY93txabt9wgg7QG3AwnMpE_4hamOgvsuJ-GihE2uXGGPwuXeMWn0CXHAMbXQzLq2OjJMtTJIWVWacMHEyVYQmKayzCouFE1dpkSahdoLKFnmaLSpnDcIpOpqryJqz7e6g6f3dZPDgjl6Gj4PbkauJAOZq0IKA9ik1Ss_9GRG-EVxhwEpTUQ-mAWc8CBTXSgc-x0wYxhQIzydiTkkHXW28WZ5-l8YWMg6tNlGkEpOWVgKBPucE4wa9_IMu0zJP6u8ayqOcQi3toOsNpfPU2tzMZZaHscorCVg2RWVdVK6L1uzF1ljOYhPsyV3CGuhtgFUYmep_kxxP33ZKd3MR2sL87C9U_iW5Rzwm35-HcvI0eWWN4JP8AgPsjaQ</recordid><startdate>201303</startdate><enddate>201303</enddate><creator>Andersen, Grete</creator><creator>Ørngreen, Mette C.</creator><creator>Preisler, Nicolai</creator><creator>Colding-J⊘rgensen, Eskild</creator><creator>Clausen, Torben</creator><creator>Duno, Morten</creator><creator>Jeppesen, Tina D.</creator><creator>Vissing, John</creator><general>Blackwell Publishing Ltd</general><general>Wiley Subscription Services, Inc</general><scope>BSCLL</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>7TS</scope><scope>7U7</scope><scope>7U9</scope><scope>C1K</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope></search><sort><creationdate>201303</creationdate><title>Muscle phenotype in patients with myotonic dystrophy type 1</title><author>Andersen, Grete ; Ørngreen, Mette C. ; Preisler, Nicolai ; Colding-J⊘rgensen, Eskild ; Clausen, Torben ; Duno, Morten ; Jeppesen, Tina D. ; Vissing, John</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3915-c1c931c844eacf8b398e96a010ac49c4904d656dda6cacd86059e55a197839f43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2013</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Aged</topic><topic>Aging - physiology</topic><topic>Binding Sites</topic><topic>Biopsy</topic><topic>Electromyography</topic><topic>Female</topic><topic>Genotype & phenotype</topic><topic>Hand Strength - physiology</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>Muscle Strength</topic><topic>Muscle Strength Dynamometer</topic><topic>Muscle Weakness - pathology</topic><topic>Muscle, Skeletal - pathology</topic><topic>Muscular dystrophy</topic><topic>Muscular system</topic><topic>myotonia</topic><topic>Myotonia - pathology</topic><topic>Myotonic Dystrophy - genetics</topic><topic>Myotonic Dystrophy - pathology</topic><topic>myotonic dystrophy type 1</topic><topic>Na+-K+ pump content</topic><topic>Ouabain - metabolism</topic><topic>phenotype</topic><topic>Sodium-Potassium-Exchanging ATPase - genetics</topic><topic>Sodium-Potassium-Exchanging ATPase - metabolism</topic><topic>Trinucleotide Repeats</topic><topic>vastus lateralis muscle biopsy</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Andersen, Grete</creatorcontrib><creatorcontrib>Ørngreen, Mette C.</creatorcontrib><creatorcontrib>Preisler, Nicolai</creatorcontrib><creatorcontrib>Colding-J⊘rgensen, Eskild</creatorcontrib><creatorcontrib>Clausen, Torben</creatorcontrib><creatorcontrib>Duno, Morten</creatorcontrib><creatorcontrib>Jeppesen, Tina D.</creatorcontrib><creatorcontrib>Vissing, John</creatorcontrib><collection>Istex</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Physical Education Index</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><jtitle>Muscle & nerve</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Andersen, Grete</au><au>Ørngreen, Mette C.</au><au>Preisler, Nicolai</au><au>Colding-J⊘rgensen, Eskild</au><au>Clausen, Torben</au><au>Duno, Morten</au><au>Jeppesen, Tina D.</au><au>Vissing, John</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Muscle phenotype in patients with myotonic dystrophy type 1</atitle><jtitle>Muscle & nerve</jtitle><addtitle>Muscle Nerve</addtitle><date>2013-03</date><risdate>2013</risdate><volume>47</volume><issue>3</issue><spage>409</spage><epage>415</epage><pages>409-415</pages><issn>0148-639X</issn><eissn>1097-4598</eissn><coden>MUNEDE</coden><abstract>Introduction: The pathogenesis of muscle involvement in patients with myotonic dystrophy type 1 (DM1) is not well understood. In this study, we characterized the muscle phenotype in patients with confirmed DM1. Methods: In 38 patients, muscle strength was tested by hand‐held dynamometry. Myotonia was evaluated by a handgrip test and by analyzing the decrement of the compound muscle action potential. Muscle biopsies were assessed for morphological changes and Na+‐K+ pump content. Results: Muscle strength correlated with a decline in Na+‐K+ pump content (r = 0.60, P < 0.001) and with CTG expansion. CTG expansion did not correlate with severity of myotonia, proximal histopathological changes, or Na+‐K+ pump content. Histopathologically, we found few centrally placed nuclei (range 0.2–6.9%). Conclusions: The main findings of this study are that muscle weakness correlated inversely with CTG expansion and that central nuclei are not a prominent feature of proximal muscles in DM1. Muscle Nerve 47:409‐415, 2013</abstract><cop>United States</cop><pub>Blackwell Publishing Ltd</pub><pmid>23169601</pmid><doi>10.1002/mus.23535</doi><tpages>7</tpages></addata></record> |
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| subjects | Adolescent Adult Aged Aging - physiology Binding Sites Biopsy Electromyography Female Genotype & phenotype Hand Strength - physiology Humans Male Middle Aged Muscle Strength Muscle Strength Dynamometer Muscle Weakness - pathology Muscle, Skeletal - pathology Muscular dystrophy Muscular system myotonia Myotonia - pathology Myotonic Dystrophy - genetics Myotonic Dystrophy - pathology myotonic dystrophy type 1 Na+-K+ pump content Ouabain - metabolism phenotype Sodium-Potassium-Exchanging ATPase - genetics Sodium-Potassium-Exchanging ATPase - metabolism Trinucleotide Repeats vastus lateralis muscle biopsy Young Adult |
| title | Muscle phenotype in patients with myotonic dystrophy type 1 |
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