Early and consistent pattern of proximal weakness in GNE myopathy
Background GNE myopathy is widely regarded as a distal myopathy. Involvement of proximal musculature in this condition has not been systematically studied. Methods The phenotype of genetically confirmed patients with GNE myopathy was analyzed. Fourteen groups of muscles were evaluated with Medical R...
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| Veröffentlicht in: | Muscle & nerve 2021-02, Vol.63 (2), p.199-203 |
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| creator | Khadilkar, Satish V. Chaudhari, Amit D. Singla, Madhu B. Dastur, Rashna S. Gaitonde, Pradnya S. Bhutada, Ashish G. Hegde, Madhuri R. |
| description | Background
GNE myopathy is widely regarded as a distal myopathy. Involvement of proximal musculature in this condition has not been systematically studied.
Methods
The phenotype of genetically confirmed patients with GNE myopathy was analyzed. Fourteen groups of muscles were evaluated with Medical Research Council (MRC) grading and the average muscle scores (AMS:1–10) were calculated.
Results
Fully documented AMS data was available in 31 of 65 patients. It showed a consistent pattern of severe weakness of hip adductors, hip flexors, knee flexors, and foot dorsiflexors, with milder weakness of the hip extensors and abductors. The knee extensors were largely unaffected. The proximal weakness appeared early in the course of the disease. Proximal muscle weakness was also present in the remaining 34 patients in whom the data were limited. A variant in exon 13 (c.2179G > A) was very common (81.5%).
Conclusions
The GNE phenotype in this Indian cohort exhibited mixed proximal and distal involvement. Weakness of adductors and flexors of the hip formed an integral part of the phenotype. |
| doi_str_mv | 10.1002/mus.27117 |
| format | Article |
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GNE myopathy is widely regarded as a distal myopathy. Involvement of proximal musculature in this condition has not been systematically studied.
Methods
The phenotype of genetically confirmed patients with GNE myopathy was analyzed. Fourteen groups of muscles were evaluated with Medical Research Council (MRC) grading and the average muscle scores (AMS:1–10) were calculated.
Results
Fully documented AMS data was available in 31 of 65 patients. It showed a consistent pattern of severe weakness of hip adductors, hip flexors, knee flexors, and foot dorsiflexors, with milder weakness of the hip extensors and abductors. The knee extensors were largely unaffected. The proximal weakness appeared early in the course of the disease. Proximal muscle weakness was also present in the remaining 34 patients in whom the data were limited. A variant in exon 13 (c.2179G > A) was very common (81.5%).
Conclusions
The GNE phenotype in this Indian cohort exhibited mixed proximal and distal involvement. Weakness of adductors and flexors of the hip formed an integral part of the phenotype.</description><identifier>ISSN: 0148-639X</identifier><identifier>EISSN: 1097-4598</identifier><identifier>DOI: 10.1002/mus.27117</identifier><identifier>PMID: 33197058</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Adolescent ; Adult ; Age of Onset ; Distal Myopathies - genetics ; Distal Myopathies - physiopathology ; Female ; Flexors ; foot drop ; Genotype & phenotype ; GNE myopathy ; Heterozygote ; Hip ; Homozygote ; Humans ; India ; Knee ; Male ; Medical research ; Middle Aged ; Multienzyme Complexes - genetics ; Muscle Weakness - physiopathology ; Muscle, Skeletal - physiopathology ; Muscles ; Mutation ; Myopathy ; Phenotype ; Phenotypes ; proximal weakness ; quadriceps sparing ; Retrospective Studies ; Severity of Illness Index ; Shoulder ; Young Adult</subject><ispartof>Muscle & nerve, 2021-02, Vol.63 (2), p.199-203</ispartof><rights>2020 Wiley Periodicals LLC</rights><rights>2020 Wiley Periodicals LLC.</rights><rights>2021 Wiley Periodicals, LLC.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c3537-3057c90bdbab943e38e956dfd7aaf3a73ccf1fcd32615311a1b69ba6efd365143</citedby><cites>FETCH-LOGICAL-c3537-3057c90bdbab943e38e956dfd7aaf3a73ccf1fcd32615311a1b69ba6efd365143</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.27117$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmus.27117$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,27915,27916,45565,45566</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/33197058$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Khadilkar, Satish V.</creatorcontrib><creatorcontrib>Chaudhari, Amit D.</creatorcontrib><creatorcontrib>Singla, Madhu B.</creatorcontrib><creatorcontrib>Dastur, Rashna S.</creatorcontrib><creatorcontrib>Gaitonde, Pradnya S.</creatorcontrib><creatorcontrib>Bhutada, Ashish G.</creatorcontrib><creatorcontrib>Hegde, Madhuri R.</creatorcontrib><title>Early and consistent pattern of proximal weakness in GNE myopathy</title><title>Muscle & nerve</title><addtitle>Muscle Nerve</addtitle><description>Background
GNE myopathy is widely regarded as a distal myopathy. Involvement of proximal musculature in this condition has not been systematically studied.
Methods
The phenotype of genetically confirmed patients with GNE myopathy was analyzed. Fourteen groups of muscles were evaluated with Medical Research Council (MRC) grading and the average muscle scores (AMS:1–10) were calculated.
Results
Fully documented AMS data was available in 31 of 65 patients. It showed a consistent pattern of severe weakness of hip adductors, hip flexors, knee flexors, and foot dorsiflexors, with milder weakness of the hip extensors and abductors. The knee extensors were largely unaffected. The proximal weakness appeared early in the course of the disease. Proximal muscle weakness was also present in the remaining 34 patients in whom the data were limited. A variant in exon 13 (c.2179G > A) was very common (81.5%).
Conclusions
The GNE phenotype in this Indian cohort exhibited mixed proximal and distal involvement. Weakness of adductors and flexors of the hip formed an integral part of the phenotype.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Age of Onset</subject><subject>Distal Myopathies - genetics</subject><subject>Distal Myopathies - physiopathology</subject><subject>Female</subject><subject>Flexors</subject><subject>foot drop</subject><subject>Genotype & phenotype</subject><subject>GNE myopathy</subject><subject>Heterozygote</subject><subject>Hip</subject><subject>Homozygote</subject><subject>Humans</subject><subject>India</subject><subject>Knee</subject><subject>Male</subject><subject>Medical research</subject><subject>Middle Aged</subject><subject>Multienzyme Complexes - genetics</subject><subject>Muscle Weakness - physiopathology</subject><subject>Muscle, Skeletal - physiopathology</subject><subject>Muscles</subject><subject>Mutation</subject><subject>Myopathy</subject><subject>Phenotype</subject><subject>Phenotypes</subject><subject>proximal weakness</subject><subject>quadriceps sparing</subject><subject>Retrospective Studies</subject><subject>Severity of Illness Index</subject><subject>Shoulder</subject><subject>Young Adult</subject><issn>0148-639X</issn><issn>1097-4598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp10E9LwzAYx_EgipvTg29AAl700C3PnjZpjmPMKUw96MBbSdsEO_tnNi2z796MTg-Cp1w-fHnyI-QS2BgYm06K1o6nAkAckSEwKTw_kOExGTLwQ4-jfBuQM2s3jDEIuTglA0SQggXhkMwWqs47qsqUJlVpM9vosqFb1TS6Lmll6LauvrJC5XSn1UepraVZSZdPC1p0lWPv3Tk5MSq3-uLwjsj6bvE6v_dWz8uH-WzlJRig8JAFIpEsTmMVSx81hloGPDWpUMqgEpgkBkyS4pRDgAAKYi5jxbVJkQfg44jc9F130WerbRMVmU10nqtSV62Npj4HlDJg3NHrP3RTtXXprnNKSAwxhNCp214ldWVtrU20rd1P6y4CFu13jYp9dr-rs1eHYhsXOv2VP0M6MOnBLst1938pely_9MlvhVuBOg</recordid><startdate>202102</startdate><enddate>202102</enddate><creator>Khadilkar, Satish V.</creator><creator>Chaudhari, Amit D.</creator><creator>Singla, Madhu B.</creator><creator>Dastur, Rashna S.</creator><creator>Gaitonde, Pradnya S.</creator><creator>Bhutada, Ashish G.</creator><creator>Hegde, Madhuri R.</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</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>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>202102</creationdate><title>Early and consistent pattern of proximal weakness in GNE myopathy</title><author>Khadilkar, Satish V. ; Chaudhari, Amit D. ; Singla, Madhu B. ; Dastur, Rashna S. ; Gaitonde, Pradnya S. ; Bhutada, Ashish G. ; Hegde, Madhuri R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c3537-3057c90bdbab943e38e956dfd7aaf3a73ccf1fcd32615311a1b69ba6efd365143</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Age of Onset</topic><topic>Distal Myopathies - genetics</topic><topic>Distal Myopathies - physiopathology</topic><topic>Female</topic><topic>Flexors</topic><topic>foot drop</topic><topic>Genotype & phenotype</topic><topic>GNE myopathy</topic><topic>Heterozygote</topic><topic>Hip</topic><topic>Homozygote</topic><topic>Humans</topic><topic>India</topic><topic>Knee</topic><topic>Male</topic><topic>Medical research</topic><topic>Middle Aged</topic><topic>Multienzyme Complexes - genetics</topic><topic>Muscle Weakness - physiopathology</topic><topic>Muscle, Skeletal - physiopathology</topic><topic>Muscles</topic><topic>Mutation</topic><topic>Myopathy</topic><topic>Phenotype</topic><topic>Phenotypes</topic><topic>proximal weakness</topic><topic>quadriceps sparing</topic><topic>Retrospective Studies</topic><topic>Severity of Illness Index</topic><topic>Shoulder</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Khadilkar, Satish V.</creatorcontrib><creatorcontrib>Chaudhari, Amit D.</creatorcontrib><creatorcontrib>Singla, Madhu B.</creatorcontrib><creatorcontrib>Dastur, Rashna S.</creatorcontrib><creatorcontrib>Gaitonde, Pradnya S.</creatorcontrib><creatorcontrib>Bhutada, Ashish G.</creatorcontrib><creatorcontrib>Hegde, Madhuri R.</creatorcontrib><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>Khadilkar, Satish V.</au><au>Chaudhari, Amit D.</au><au>Singla, Madhu B.</au><au>Dastur, Rashna S.</au><au>Gaitonde, Pradnya S.</au><au>Bhutada, Ashish G.</au><au>Hegde, Madhuri R.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Early and consistent pattern of proximal weakness in GNE myopathy</atitle><jtitle>Muscle & nerve</jtitle><addtitle>Muscle Nerve</addtitle><date>2021-02</date><risdate>2021</risdate><volume>63</volume><issue>2</issue><spage>199</spage><epage>203</epage><pages>199-203</pages><issn>0148-639X</issn><eissn>1097-4598</eissn><abstract>Background
GNE myopathy is widely regarded as a distal myopathy. Involvement of proximal musculature in this condition has not been systematically studied.
Methods
The phenotype of genetically confirmed patients with GNE myopathy was analyzed. Fourteen groups of muscles were evaluated with Medical Research Council (MRC) grading and the average muscle scores (AMS:1–10) were calculated.
Results
Fully documented AMS data was available in 31 of 65 patients. It showed a consistent pattern of severe weakness of hip adductors, hip flexors, knee flexors, and foot dorsiflexors, with milder weakness of the hip extensors and abductors. The knee extensors were largely unaffected. The proximal weakness appeared early in the course of the disease. Proximal muscle weakness was also present in the remaining 34 patients in whom the data were limited. A variant in exon 13 (c.2179G > A) was very common (81.5%).
Conclusions
The GNE phenotype in this Indian cohort exhibited mixed proximal and distal involvement. Weakness of adductors and flexors of the hip formed an integral part of the phenotype.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>33197058</pmid><doi>10.1002/mus.27117</doi><tpages>5</tpages></addata></record> |
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| source | MEDLINE; Wiley Online Library All Journals |
| subjects | Adolescent Adult Age of Onset Distal Myopathies - genetics Distal Myopathies - physiopathology Female Flexors foot drop Genotype & phenotype GNE myopathy Heterozygote Hip Homozygote Humans India Knee Male Medical research Middle Aged Multienzyme Complexes - genetics Muscle Weakness - physiopathology Muscle, Skeletal - physiopathology Muscles Mutation Myopathy Phenotype Phenotypes proximal weakness quadriceps sparing Retrospective Studies Severity of Illness Index Shoulder Young Adult |
| title | Early and consistent pattern of proximal weakness in GNE myopathy |
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