Hoarseness due to bilateral vocal cord paralysis as an initial manifestation of familial amyotrophic lateral sclerosis
Bulbar palsy is unusual as an initial manifestation of amyotrophic lateral sclerosis (ALS), although common in the advanced stages. In terms of bulbar palsy as a presenting symptom, dysarthria and dysphagia are of common features. Hoarseness, however, is an initial symptom of ALS in only a small num...
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Veröffentlicht in: | Amyotrophic lateral sclerosis 2005-06, Vol.6 (2), p.122-124 |
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creator | Fukae, Jiro Kubo, Shin-Ichiro Hattori, Nobutaka Komatsu, Kaoru Kato, Masaaki Aoki, Masashi Mizuno, Yoshikuni |
description | Bulbar palsy is unusual as an initial manifestation of amyotrophic lateral sclerosis (ALS), although common in the advanced stages. In terms of bulbar palsy as a presenting symptom, dysarthria and dysphagia are of common features. Hoarseness, however, is an initial symptom of ALS in only a small number of patients. We report a 43-year-old female with hoarseness due to bilateral vocal cord paralysis as the first manifestation of ALS. Gene analysis revealed a heterozygous missense mutation in the SOD1 gene, which resulted in an amino acid substitution of isoleucine 149 by threonine. Hoarseness can be the initial symptom of ALS. Therefore, in cases of bilateral vocal cord paralysis of unknown etiology, ALS should be taken into consideration. |
doi_str_mv | 10.1080/14660820510034451 |
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In terms of bulbar palsy as a presenting symptom, dysarthria and dysphagia are of common features. Hoarseness, however, is an initial symptom of ALS in only a small number of patients. We report a 43-year-old female with hoarseness due to bilateral vocal cord paralysis as the first manifestation of ALS. Gene analysis revealed a heterozygous missense mutation in the SOD1 gene, which resulted in an amino acid substitution of isoleucine 149 by threonine. Hoarseness can be the initial symptom of ALS. Therefore, in cases of bilateral vocal cord paralysis of unknown etiology, ALS should be taken into consideration.</description><identifier>ISSN: 1748-2968</identifier><identifier>ISSN: 1466-0822</identifier><identifier>EISSN: 1471-180X</identifier><identifier>DOI: 10.1080/14660820510034451</identifier><identifier>PMID: 16036438</identifier><language>eng</language><publisher>England: Informa UK Ltd</publisher><subject>Adult ; Amyotrophic Lateral Sclerosis - diagnosis ; Amyotrophic Lateral Sclerosis - physiopathology ; bilateral vocal cord paralysis ; Familial amyotrophic lateral sclerosis (FALS) ; Family Health ; Female ; hoarseness ; Hoarseness - etiology ; Humans ; Laryngoscopy - methods ; SOD1 ; Vocal Cord Paralysis - diagnosis ; Vocal Cord Paralysis - etiology</subject><ispartof>Amyotrophic lateral sclerosis, 2005-06, Vol.6 (2), p.122-124</ispartof><rights>2005 Informa UK Ltd All rights reserved: reproduction in whole or part not permitted 2005</rights><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c501t-1925a3411ad34e9f72fae991942a77fad559acaba8146f41506caf018f70c0093</citedby><cites>FETCH-LOGICAL-c501t-1925a3411ad34e9f72fae991942a77fad559acaba8146f41506caf018f70c0093</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://www.tandfonline.com/doi/pdf/10.1080/14660820510034451$$EPDF$$P50$$Ginformahealthcare$$H</linktopdf><linktohtml>$$Uhttps://www.tandfonline.com/doi/full/10.1080/14660820510034451$$EHTML$$P50$$Ginformahealthcare$$H</linktohtml><link.rule.ids>314,776,780,27901,27902,59620,59726,60409,60515,61194,61229,61375,61410</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/16036438$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Fukae, Jiro</creatorcontrib><creatorcontrib>Kubo, Shin-Ichiro</creatorcontrib><creatorcontrib>Hattori, Nobutaka</creatorcontrib><creatorcontrib>Komatsu, Kaoru</creatorcontrib><creatorcontrib>Kato, Masaaki</creatorcontrib><creatorcontrib>Aoki, Masashi</creatorcontrib><creatorcontrib>Mizuno, Yoshikuni</creatorcontrib><title>Hoarseness due to bilateral vocal cord paralysis as an initial manifestation of familial amyotrophic lateral sclerosis</title><title>Amyotrophic lateral sclerosis</title><addtitle>Amyotroph Lateral Scler Other Motor Neuron Disord</addtitle><description>Bulbar palsy is unusual as an initial manifestation of amyotrophic lateral sclerosis (ALS), although common in the advanced stages. In terms of bulbar palsy as a presenting symptom, dysarthria and dysphagia are of common features. Hoarseness, however, is an initial symptom of ALS in only a small number of patients. We report a 43-year-old female with hoarseness due to bilateral vocal cord paralysis as the first manifestation of ALS. Gene analysis revealed a heterozygous missense mutation in the SOD1 gene, which resulted in an amino acid substitution of isoleucine 149 by threonine. Hoarseness can be the initial symptom of ALS. Therefore, in cases of bilateral vocal cord paralysis of unknown etiology, ALS should be taken into consideration.</description><subject>Adult</subject><subject>Amyotrophic Lateral Sclerosis - diagnosis</subject><subject>Amyotrophic Lateral Sclerosis - physiopathology</subject><subject>bilateral vocal cord paralysis</subject><subject>Familial amyotrophic lateral sclerosis (FALS)</subject><subject>Family Health</subject><subject>Female</subject><subject>hoarseness</subject><subject>Hoarseness - etiology</subject><subject>Humans</subject><subject>Laryngoscopy - methods</subject><subject>SOD1</subject><subject>Vocal Cord Paralysis - diagnosis</subject><subject>Vocal Cord Paralysis - etiology</subject><issn>1748-2968</issn><issn>1466-0822</issn><issn>1471-180X</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2005</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkVFrFTEQhRex2Fr9Ab5Innxbnckmuwn6IqVaodAXBd_C3GzCTclursluy_33TblXRIQKIQmZ7xwmc5rmDcJ7BAUfUPQ9KA4SATohJD5rzlAM2KKCn8_rfRCq5bpXp83LUm4BJNecv2hOsYeuF506a-6uEuXiZlcKG1fHlsQ2IdLiMkV2l2zdbcoj21F92JdQGNU1szCHJdTiRHPwriy0hDSz5JmnKcTHCk37tOS02wbLfhsWG11O1eVVc-IpFvf6eJ43P75cfr-4aq9vvn67-HzdWgm4tKi5pE4g0tgJp_3APTmtUQtOw-BplFKTpQ2pOgovUEJvyQMqP4AF0N158-7gu8vp11r7NFMo1sVIs0trMb2CXkjB_wty0DigVBXEA2jrR0p23uxymCjvDYJ5TMX8k0rVvD2ar5vJjX8Uxxgq8OkAhNmnPNF9ynE0C-1jyj7TbEMx3VP-H_-Sbx3FZWspO3Ob1jzXCT_R3QMzH651</recordid><startdate>200506</startdate><enddate>200506</enddate><creator>Fukae, Jiro</creator><creator>Kubo, Shin-Ichiro</creator><creator>Hattori, Nobutaka</creator><creator>Komatsu, Kaoru</creator><creator>Kato, Masaaki</creator><creator>Aoki, Masashi</creator><creator>Mizuno, Yoshikuni</creator><general>Informa UK Ltd</general><general>Taylor & Francis</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>7TK</scope><scope>7X8</scope></search><sort><creationdate>200506</creationdate><title>Hoarseness due to bilateral vocal cord paralysis as an initial manifestation of familial amyotrophic lateral sclerosis</title><author>Fukae, Jiro ; Kubo, Shin-Ichiro ; Hattori, Nobutaka ; Komatsu, Kaoru ; Kato, Masaaki ; Aoki, Masashi ; Mizuno, Yoshikuni</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c501t-1925a3411ad34e9f72fae991942a77fad559acaba8146f41506caf018f70c0093</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2005</creationdate><topic>Adult</topic><topic>Amyotrophic Lateral Sclerosis - diagnosis</topic><topic>Amyotrophic Lateral Sclerosis - physiopathology</topic><topic>bilateral vocal cord paralysis</topic><topic>Familial amyotrophic lateral sclerosis (FALS)</topic><topic>Family Health</topic><topic>Female</topic><topic>hoarseness</topic><topic>Hoarseness - etiology</topic><topic>Humans</topic><topic>Laryngoscopy - methods</topic><topic>SOD1</topic><topic>Vocal Cord Paralysis - diagnosis</topic><topic>Vocal Cord Paralysis - etiology</topic><toplevel>online_resources</toplevel><creatorcontrib>Fukae, Jiro</creatorcontrib><creatorcontrib>Kubo, Shin-Ichiro</creatorcontrib><creatorcontrib>Hattori, Nobutaka</creatorcontrib><creatorcontrib>Komatsu, Kaoru</creatorcontrib><creatorcontrib>Kato, Masaaki</creatorcontrib><creatorcontrib>Aoki, Masashi</creatorcontrib><creatorcontrib>Mizuno, Yoshikuni</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Amyotrophic lateral sclerosis</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Fukae, Jiro</au><au>Kubo, Shin-Ichiro</au><au>Hattori, Nobutaka</au><au>Komatsu, Kaoru</au><au>Kato, Masaaki</au><au>Aoki, Masashi</au><au>Mizuno, Yoshikuni</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Hoarseness due to bilateral vocal cord paralysis as an initial manifestation of familial amyotrophic lateral sclerosis</atitle><jtitle>Amyotrophic lateral sclerosis</jtitle><addtitle>Amyotroph Lateral Scler Other Motor Neuron Disord</addtitle><date>2005-06</date><risdate>2005</risdate><volume>6</volume><issue>2</issue><spage>122</spage><epage>124</epage><pages>122-124</pages><issn>1748-2968</issn><issn>1466-0822</issn><eissn>1471-180X</eissn><abstract>Bulbar palsy is unusual as an initial manifestation of amyotrophic lateral sclerosis (ALS), although common in the advanced stages. In terms of bulbar palsy as a presenting symptom, dysarthria and dysphagia are of common features. Hoarseness, however, is an initial symptom of ALS in only a small number of patients. We report a 43-year-old female with hoarseness due to bilateral vocal cord paralysis as the first manifestation of ALS. Gene analysis revealed a heterozygous missense mutation in the SOD1 gene, which resulted in an amino acid substitution of isoleucine 149 by threonine. Hoarseness can be the initial symptom of ALS. Therefore, in cases of bilateral vocal cord paralysis of unknown etiology, ALS should be taken into consideration.</abstract><cop>England</cop><pub>Informa UK Ltd</pub><pmid>16036438</pmid><doi>10.1080/14660820510034451</doi><tpages>3</tpages></addata></record> |
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subjects | Adult Amyotrophic Lateral Sclerosis - diagnosis Amyotrophic Lateral Sclerosis - physiopathology bilateral vocal cord paralysis Familial amyotrophic lateral sclerosis (FALS) Family Health Female hoarseness Hoarseness - etiology Humans Laryngoscopy - methods SOD1 Vocal Cord Paralysis - diagnosis Vocal Cord Paralysis - etiology |
title | Hoarseness due to bilateral vocal cord paralysis as an initial manifestation of familial amyotrophic lateral sclerosis |
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