Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy
Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes. The causative gene is currently unknown; therefore, diagnosis of OPDM is...
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| description | Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes. The causative gene is currently unknown; therefore, diagnosis of OPDM is based on clinical and histopathological features and genetic exclusion of similar conditions. Moreover, variable manifestations of this disorder are reported in terms of muscle involvement and severity. We present the clinical profile and magnetic resonance imaging (MRI) changes of lower limb muscles in 14 mainland Chinese patients with OPDM, emphasizing the role of muscle MRI in disease identification and differential diagnosis. The patients came from 10 unrelated families and presented with progressive external ocular, laryngopharyngeal, facial, distal limb muscle weakness that had been present since early adulthood. Serum creatine kinase was mildly to moderately elevated. Electromyography revealed myogenic changes with inconsistent myotonic discharge. The respiratory function test revealed subclinical respiratory muscle involvement. Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes. All known genes responsible for distal and myofibrillar myopathies, vacuolar myopathies, and muscular dystrophies were excluded by PCR or targeted next-generation sequencing. Muscle MRI revealed that the distal lower legs had more severe fatty replacement than the thigh muscles. Serious involvement of the soleus and long head of the biceps femoris was observed in all patients, whereas the popliteus, gracilis and short head of biceps femoris were almost completely spared, even in advanced stages. Not only does our study widen the spectrum of OPDM in China, but it also demonstrates that OPDM has a specific pattern of muscle involvement that may provide valuable information for its differential diagnosis and show further evidence supporting the conclusion that OPDM is a unique disease phenotype. |
| doi_str_mv | 10.1371/journal.pone.0128629 |
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The causative gene is currently unknown; therefore, diagnosis of OPDM is based on clinical and histopathological features and genetic exclusion of similar conditions. Moreover, variable manifestations of this disorder are reported in terms of muscle involvement and severity. We present the clinical profile and magnetic resonance imaging (MRI) changes of lower limb muscles in 14 mainland Chinese patients with OPDM, emphasizing the role of muscle MRI in disease identification and differential diagnosis. The patients came from 10 unrelated families and presented with progressive external ocular, laryngopharyngeal, facial, distal limb muscle weakness that had been present since early adulthood. Serum creatine kinase was mildly to moderately elevated. Electromyography revealed myogenic changes with inconsistent myotonic discharge. The respiratory function test revealed subclinical respiratory muscle involvement. Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes. All known genes responsible for distal and myofibrillar myopathies, vacuolar myopathies, and muscular dystrophies were excluded by PCR or targeted next-generation sequencing. Muscle MRI revealed that the distal lower legs had more severe fatty replacement than the thigh muscles. Serious involvement of the soleus and long head of the biceps femoris was observed in all patients, whereas the popliteus, gracilis and short head of biceps femoris were almost completely spared, even in advanced stages. Not only does our study widen the spectrum of OPDM in China, but it also demonstrates that OPDM has a specific pattern of muscle involvement that may provide valuable information for its differential diagnosis and show further evidence supporting the conclusion that OPDM is a unique disease phenotype.</description><identifier>ISSN: 1932-6203</identifier><identifier>EISSN: 1932-6203</identifier><identifier>DOI: 10.1371/journal.pone.0128629</identifier><identifier>PMID: 26039504</identifier><language>eng</language><publisher>United States: Public Library of Science</publisher><subject>Adult ; Care and treatment ; College professors ; Creatine ; Creatine kinase ; Creatine Kinase - blood ; Defects ; Diagnosis ; Diagnostic imaging ; Differential diagnosis ; Electrocardiography ; Electromyography ; EMG ; Female ; High-Throughput Nucleotide Sequencing ; Humans ; Kinases ; Leg ; Magnetic resonance ; Magnetic Resonance Imaging ; Male ; Methods ; Multiplexing ; Muscle, Skeletal - enzymology ; Muscle, Skeletal - pathology ; Muscle, Skeletal - physiopathology ; Muscles ; Muscular diseases ; Muscular Dystrophies - blood ; Muscular Dystrophies - diagnosis ; Muscular Dystrophies - pathology ; Muscular Dystrophies - physiopathology ; Muscular dystrophy ; Myopathy ; Neurology ; NMR ; Nuclear magnetic resonance ; Organ Specificity ; Patients ; Pedigree ; Pharynx ; Phenotypes ; Proteins ; Respiratory function ; Thigh ; Vacuoles</subject><ispartof>PloS one, 2015-06, Vol.10 (6), p.e0128629-e0128629</ispartof><rights>COPYRIGHT 2015 Public Library of Science</rights><rights>2015 Zhao et al. This is an open access article distributed under the terms of the Creative Commons Attribution License: http://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.</rights><rights>2015 Zhao et al 2015 Zhao et al</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c692t-b78dbdaeb603925035a4d83ca6d33a6d6f0c681d2535c3103f9e9d69f962a3d53</citedby><cites>FETCH-LOGICAL-c692t-b78dbdaeb603925035a4d83ca6d33a6d6f0c681d2535c3103f9e9d69f962a3d53</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454561/pdf/$$EPDF$$P50$$Gpubmedcentral$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4454561/$$EHTML$$P50$$Gpubmedcentral$$Hfree_for_read</linktohtml><link.rule.ids>230,314,723,776,780,860,881,2096,2915,23845,27901,27902,53766,53768,79343,79344</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/26039504$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Zhao, Juan</creatorcontrib><creatorcontrib>Liu, Jing</creatorcontrib><creatorcontrib>Xiao, Jiangxi</creatorcontrib><creatorcontrib>Du, Jing</creatorcontrib><creatorcontrib>Que, Chengli</creatorcontrib><creatorcontrib>Shi, Xin</creatorcontrib><creatorcontrib>Liang, Wei</creatorcontrib><creatorcontrib>Sun, Weiping</creatorcontrib><creatorcontrib>Zhang, Wei</creatorcontrib><creatorcontrib>Lv, He</creatorcontrib><creatorcontrib>Yuan, Yun</creatorcontrib><creatorcontrib>Wang, Zhaoxia</creatorcontrib><title>Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy</title><title>PloS one</title><addtitle>PLoS One</addtitle><description>Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes. The causative gene is currently unknown; therefore, diagnosis of OPDM is based on clinical and histopathological features and genetic exclusion of similar conditions. Moreover, variable manifestations of this disorder are reported in terms of muscle involvement and severity. We present the clinical profile and magnetic resonance imaging (MRI) changes of lower limb muscles in 14 mainland Chinese patients with OPDM, emphasizing the role of muscle MRI in disease identification and differential diagnosis. The patients came from 10 unrelated families and presented with progressive external ocular, laryngopharyngeal, facial, distal limb muscle weakness that had been present since early adulthood. Serum creatine kinase was mildly to moderately elevated. Electromyography revealed myogenic changes with inconsistent myotonic discharge. The respiratory function test revealed subclinical respiratory muscle involvement. Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes. All known genes responsible for distal and myofibrillar myopathies, vacuolar myopathies, and muscular dystrophies were excluded by PCR or targeted next-generation sequencing. Muscle MRI revealed that the distal lower legs had more severe fatty replacement than the thigh muscles. Serious involvement of the soleus and long head of the biceps femoris was observed in all patients, whereas the popliteus, gracilis and short head of biceps femoris were almost completely spared, even in advanced stages. 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enzymology</subject><subject>Muscle, Skeletal - pathology</subject><subject>Muscle, Skeletal - physiopathology</subject><subject>Muscles</subject><subject>Muscular diseases</subject><subject>Muscular Dystrophies - blood</subject><subject>Muscular Dystrophies - diagnosis</subject><subject>Muscular Dystrophies - pathology</subject><subject>Muscular Dystrophies - physiopathology</subject><subject>Muscular dystrophy</subject><subject>Myopathy</subject><subject>Neurology</subject><subject>NMR</subject><subject>Nuclear magnetic resonance</subject><subject>Organ Specificity</subject><subject>Patients</subject><subject>Pedigree</subject><subject>Pharynx</subject><subject>Phenotypes</subject><subject>Proteins</subject><subject>Respiratory function</subject><subject>Thigh</subject><subject>Vacuoles</subject><issn>1932-6203</issn><issn>1932-6203</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2015</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>BENPR</sourceid><sourceid>DOA</sourceid><recordid>eNqNk1uL1DAUx4so7rr6DUQLgujDjElzmfZFWAYvAwsL3l7DaS5thjQZm1adb2-6M7tMZR-k0IT0d_45599zsuw5RktMVvjdNoy9B7fcBa-XCBclL6oH2TmuSLHgBSIPT_Zn2ZMYtwgxUnL-ODsrOCIVQ_Q8M2tnvZXgcvAq78Yonc5tB431TW6sV2mNufU5pnkH1rsJk631Oup8B4PVfoj5bzu0eZCjC7sW-r1vgrJxSKLdPiSo3T_NHhlwUT87rhfZ948fvq0_L66uP23Wl1cLyatiWNSrUtUKdD3lVzBEGFBVEglcEZJe3CDJS6wKRpgkGBFT6UrxylS8AKIYucheHnR3LkRxtCgKzEu2YhUpcSI2B0IF2Ipdn2rt9yKAFTcHoW8E9INNNggDqxoxXYNBiAIywBjXLGUoWU0rWSet98fbxrrTSiYvenAz0fkXb1vRhF-CUkYZn5J5cxTow89Rx0F0Nkrtkss6jDd5c4oJqsqEvvoHvb-6I9VAKsB6E9K9chIVl7SYWoGuJmp5D5UepTsrUz8Zm85nAW9nAYkZ9J-hgTFGsfn65f_Z6x9z9vUJ22pwQxuDGwcbfJyD9ADKPsTYa3NnMkZiGodbN8Q0DuI4DinsxekPugu67X_yF86EBmw</recordid><startdate>20150603</startdate><enddate>20150603</enddate><creator>Zhao, Juan</creator><creator>Liu, Jing</creator><creator>Xiao, Jiangxi</creator><creator>Du, Jing</creator><creator>Que, Chengli</creator><creator>Shi, Xin</creator><creator>Liang, Wei</creator><creator>Sun, Weiping</creator><creator>Zhang, Wei</creator><creator>Lv, He</creator><creator>Yuan, Yun</creator><creator>Wang, Zhaoxia</creator><general>Public Library of Science</general><general>Public Library of Science (PLoS)</general><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>IOV</scope><scope>ISR</scope><scope>3V.</scope><scope>7QG</scope><scope>7QL</scope><scope>7QO</scope><scope>7RV</scope><scope>7SN</scope><scope>7SS</scope><scope>7T5</scope><scope>7TG</scope><scope>7TM</scope><scope>7U9</scope><scope>7X2</scope><scope>7X7</scope><scope>7XB</scope><scope>88E</scope><scope>8AO</scope><scope>8C1</scope><scope>8FD</scope><scope>8FE</scope><scope>8FG</scope><scope>8FH</scope><scope>8FI</scope><scope>8FJ</scope><scope>8FK</scope><scope>ABJCF</scope><scope>ABUWG</scope><scope>AEUYN</scope><scope>AFKRA</scope><scope>ARAPS</scope><scope>ATCPS</scope><scope>AZQEC</scope><scope>BBNVY</scope><scope>BENPR</scope><scope>BGLVJ</scope><scope>BHPHI</scope><scope>C1K</scope><scope>CCPQU</scope><scope>D1I</scope><scope>DWQXO</scope><scope>FR3</scope><scope>FYUFA</scope><scope>GHDGH</scope><scope>GNUQQ</scope><scope>H94</scope><scope>HCIFZ</scope><scope>K9.</scope><scope>KB.</scope><scope>KB0</scope><scope>KL.</scope><scope>L6V</scope><scope>LK8</scope><scope>M0K</scope><scope>M0S</scope><scope>M1P</scope><scope>M7N</scope><scope>M7P</scope><scope>M7S</scope><scope>NAPCQ</scope><scope>P5Z</scope><scope>P62</scope><scope>P64</scope><scope>PATMY</scope><scope>PDBOC</scope><scope>PIMPY</scope><scope>PQEST</scope><scope>PQQKQ</scope><scope>PQUKI</scope><scope>PRINS</scope><scope>PTHSS</scope><scope>PYCSY</scope><scope>RC3</scope><scope>7X8</scope><scope>5PM</scope><scope>DOA</scope></search><sort><creationdate>20150603</creationdate><title>Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy</title><author>Zhao, Juan ; Liu, Jing ; Xiao, Jiangxi ; Du, Jing ; Que, Chengli ; Shi, Xin ; Liang, Wei ; Sun, Weiping ; Zhang, Wei ; Lv, He ; Yuan, Yun ; Wang, Zhaoxia</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c692t-b78dbdaeb603925035a4d83ca6d33a6d6f0c681d2535c3103f9e9d69f962a3d53</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2015</creationdate><topic>Adult</topic><topic>Care and treatment</topic><topic>College professors</topic><topic>Creatine</topic><topic>Creatine kinase</topic><topic>Creatine Kinase - 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Academic</collection><collection>PubMed Central (Full Participant titles)</collection><collection>DOAJ Directory of Open Access Journals</collection><jtitle>PloS one</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zhao, Juan</au><au>Liu, Jing</au><au>Xiao, Jiangxi</au><au>Du, Jing</au><au>Que, Chengli</au><au>Shi, Xin</au><au>Liang, Wei</au><au>Sun, Weiping</au><au>Zhang, Wei</au><au>Lv, He</au><au>Yuan, Yun</au><au>Wang, Zhaoxia</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy</atitle><jtitle>PloS one</jtitle><addtitle>PLoS One</addtitle><date>2015-06-03</date><risdate>2015</risdate><volume>10</volume><issue>6</issue><spage>e0128629</spage><epage>e0128629</epage><pages>e0128629-e0128629</pages><issn>1932-6203</issn><eissn>1932-6203</eissn><abstract>Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes. The causative gene is currently unknown; therefore, diagnosis of OPDM is based on clinical and histopathological features and genetic exclusion of similar conditions. Moreover, variable manifestations of this disorder are reported in terms of muscle involvement and severity. We present the clinical profile and magnetic resonance imaging (MRI) changes of lower limb muscles in 14 mainland Chinese patients with OPDM, emphasizing the role of muscle MRI in disease identification and differential diagnosis. The patients came from 10 unrelated families and presented with progressive external ocular, laryngopharyngeal, facial, distal limb muscle weakness that had been present since early adulthood. Serum creatine kinase was mildly to moderately elevated. Electromyography revealed myogenic changes with inconsistent myotonic discharge. The respiratory function test revealed subclinical respiratory muscle involvement. Myopathological findings showed rimmed vacuoles with varying degrees of muscular dystrophic changes. All known genes responsible for distal and myofibrillar myopathies, vacuolar myopathies, and muscular dystrophies were excluded by PCR or targeted next-generation sequencing. Muscle MRI revealed that the distal lower legs had more severe fatty replacement than the thigh muscles. Serious involvement of the soleus and long head of the biceps femoris was observed in all patients, whereas the popliteus, gracilis and short head of biceps femoris were almost completely spared, even in advanced stages. Not only does our study widen the spectrum of OPDM in China, but it also demonstrates that OPDM has a specific pattern of muscle involvement that may provide valuable information for its differential diagnosis and show further evidence supporting the conclusion that OPDM is a unique disease phenotype.</abstract><cop>United States</cop><pub>Public Library of Science</pub><pmid>26039504</pmid><doi>10.1371/journal.pone.0128629</doi><oa>free_for_read</oa></addata></record> |
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| ispartof | PloS one, 2015-06, Vol.10 (6), p.e0128629-e0128629 |
| issn | 1932-6203 1932-6203 |
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| subjects | Adult Care and treatment College professors Creatine Creatine kinase Creatine Kinase - blood Defects Diagnosis Diagnostic imaging Differential diagnosis Electrocardiography Electromyography EMG Female High-Throughput Nucleotide Sequencing Humans Kinases Leg Magnetic resonance Magnetic Resonance Imaging Male Methods Multiplexing Muscle, Skeletal - enzymology Muscle, Skeletal - pathology Muscle, Skeletal - physiopathology Muscles Muscular diseases Muscular Dystrophies - blood Muscular Dystrophies - diagnosis Muscular Dystrophies - pathology Muscular Dystrophies - physiopathology Muscular dystrophy Myopathy Neurology NMR Nuclear magnetic resonance Organ Specificity Patients Pedigree Pharynx Phenotypes Proteins Respiratory function Thigh Vacuoles |
| title | Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-02-01T17%3A13%3A32IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-gale_plos_&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Clinical%20and%20muscle%20imaging%20findings%20in%2014%20mainland%20chinese%20patients%20with%20oculopharyngodistal%20myopathy&rft.jtitle=PloS%20one&rft.au=Zhao,%20Juan&rft.date=2015-06-03&rft.volume=10&rft.issue=6&rft.spage=e0128629&rft.epage=e0128629&rft.pages=e0128629-e0128629&rft.issn=1932-6203&rft.eissn=1932-6203&rft_id=info:doi/10.1371/journal.pone.0128629&rft_dat=%3Cgale_plos_%3EA426203471%3C/gale_plos_%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=1685759381&rft_id=info:pmid/26039504&rft_galeid=A426203471&rft_doaj_id=oai_doaj_org_article_fa7b05ebaf004a0fa556e58dbc5b49cb&rfr_iscdi=true |