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Diaphragmatic dysfunction in Collagen VI myopathies
Abstract Collagen VI-related myopathies are hereditary disorders causing progressive restrictive respiratory insufficiency. Specific diaphragm involvement has been suggested by a drop in supine volumes. This pilot study aimed at characterizing the respiratory muscle phenotype in patients with COL6A1...
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| Published in: | Neuromuscular disorders : NMD 2014-02, Vol.24 (2), p.125-133 |
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| cites | cdi_FETCH-LOGICAL-c441t-52373792c1dd415da493d2d333a10e6300a4f2affb53659998cc2082606cd4b83 |
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| container_title | Neuromuscular disorders : NMD |
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| creator | Quijano-Roy, S Khirani, S Colella, M Ramirez, A Aloui, S Wehbi, S de Becdelievre, A Carlier, R.Y Allamand, V Richard, P Azzi, V Estournet, B Fauroux, B |
| description | Abstract Collagen VI-related myopathies are hereditary disorders causing progressive restrictive respiratory insufficiency. Specific diaphragm involvement has been suggested by a drop in supine volumes. This pilot study aimed at characterizing the respiratory muscle phenotype in patients with COL6A1 - 3 genes mutations. Lung function, blood gases, muscle strength and respiratory mechanics were measured in 7 patients between 2002 and 2012. Patients were classified as Early-Severe ( n = 3), Moderate-Progressive ( n = 2) and Mild ( n = 2) according to clinical disease presentation. Seven patients (aged 6–28) were evaluated. Forced vital capacity distinguished the Mild group (>60% predicted) from the two other groups ( |
| doi_str_mv | 10.1016/j.nmd.2013.11.002 |
| format | article |
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Specific diaphragm involvement has been suggested by a drop in supine volumes. This pilot study aimed at characterizing the respiratory muscle phenotype in patients with COL6A1 - 3 genes mutations. Lung function, blood gases, muscle strength and respiratory mechanics were measured in 7 patients between 2002 and 2012. Patients were classified as Early-Severe ( n = 3), Moderate-Progressive ( n = 2) and Mild ( n = 2) according to clinical disease presentation. Seven patients (aged 6–28) were evaluated. Forced vital capacity distinguished the Mild group (>60% predicted) from the two other groups (<50% predicted). This distinction was also possible using the motor function measure scale. Diaphragmatic dysfunction at rest was observed in all the Early - Severe and Moderate - Progressive patients. During a voluntary sniff maneuver diaphragmatic dysfunction was observed in all patients, as assessed by a negative gastric pressure. All patients had diaphragmatic fatigue assessed by a tension-time index over the threshold of 0.15. Diaphragmatic dysfunction during a maximal voluntary maneuver and diaphragmatic fatigue are constant features in Collagen VI myopathies. These observations can assist the diagnosis and should be taken in account for the clinical management, with the early detection of sleep-disordered breathing.</description><identifier>ISSN: 0960-8966</identifier><identifier>EISSN: 1873-2364</identifier><identifier>DOI: 10.1016/j.nmd.2013.11.002</identifier><identifier>PMID: 24314752</identifier><language>eng</language><publisher>England: Elsevier B.V</publisher><subject>Adolescent ; Adult ; Bethlem myopathy ; Child ; Collagen Type VI - genetics ; Collagen Type VI - metabolism ; COLVI-related myopathy ; Diagnosis, Differential ; Diaphragm ; Diaphragm - physiopathology ; Female ; Genotyping Techniques ; Humans ; Immunohistochemistry ; Male ; Motor Activity - physiology ; Motor function measure scale ; Muscle Strength - genetics ; Muscle Strength - physiology ; Muscular Diseases - diagnosis ; Muscular Diseases - genetics ; Muscular Diseases - physiopathology ; Neurology ; Phenotype ; Respiratory function ; Rest - physiology ; Severity of Illness Index ; Ullrich congenital muscular dystrophy ; Vital Capacity ; Whole body muscle magnetic resonance imaging ; Young Adult</subject><ispartof>Neuromuscular disorders : NMD, 2014-02, Vol.24 (2), p.125-133</ispartof><rights>Elsevier B.V.</rights><rights>2013 Elsevier B.V.</rights><rights>Copyright © 2013 Elsevier B.V. All rights reserved.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c441t-52373792c1dd415da493d2d333a10e6300a4f2affb53659998cc2082606cd4b83</citedby><cites>FETCH-LOGICAL-c441t-52373792c1dd415da493d2d333a10e6300a4f2affb53659998cc2082606cd4b83</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/24314752$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Quijano-Roy, S</creatorcontrib><creatorcontrib>Khirani, S</creatorcontrib><creatorcontrib>Colella, M</creatorcontrib><creatorcontrib>Ramirez, A</creatorcontrib><creatorcontrib>Aloui, S</creatorcontrib><creatorcontrib>Wehbi, S</creatorcontrib><creatorcontrib>de Becdelievre, A</creatorcontrib><creatorcontrib>Carlier, R.Y</creatorcontrib><creatorcontrib>Allamand, V</creatorcontrib><creatorcontrib>Richard, P</creatorcontrib><creatorcontrib>Azzi, V</creatorcontrib><creatorcontrib>Estournet, B</creatorcontrib><creatorcontrib>Fauroux, B</creatorcontrib><title>Diaphragmatic dysfunction in Collagen VI myopathies</title><title>Neuromuscular disorders : NMD</title><addtitle>Neuromuscul Disord</addtitle><description>Abstract Collagen VI-related myopathies are hereditary disorders causing progressive restrictive respiratory insufficiency. Specific diaphragm involvement has been suggested by a drop in supine volumes. This pilot study aimed at characterizing the respiratory muscle phenotype in patients with COL6A1 - 3 genes mutations. Lung function, blood gases, muscle strength and respiratory mechanics were measured in 7 patients between 2002 and 2012. Patients were classified as Early-Severe ( n = 3), Moderate-Progressive ( n = 2) and Mild ( n = 2) according to clinical disease presentation. Seven patients (aged 6–28) were evaluated. Forced vital capacity distinguished the Mild group (>60% predicted) from the two other groups (<50% predicted). This distinction was also possible using the motor function measure scale. Diaphragmatic dysfunction at rest was observed in all the Early - Severe and Moderate - Progressive patients. During a voluntary sniff maneuver diaphragmatic dysfunction was observed in all patients, as assessed by a negative gastric pressure. All patients had diaphragmatic fatigue assessed by a tension-time index over the threshold of 0.15. Diaphragmatic dysfunction during a maximal voluntary maneuver and diaphragmatic fatigue are constant features in Collagen VI myopathies. These observations can assist the diagnosis and should be taken in account for the clinical management, with the early detection of sleep-disordered breathing.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Bethlem myopathy</subject><subject>Child</subject><subject>Collagen Type VI - genetics</subject><subject>Collagen Type VI - metabolism</subject><subject>COLVI-related myopathy</subject><subject>Diagnosis, Differential</subject><subject>Diaphragm</subject><subject>Diaphragm - physiopathology</subject><subject>Female</subject><subject>Genotyping Techniques</subject><subject>Humans</subject><subject>Immunohistochemistry</subject><subject>Male</subject><subject>Motor Activity - physiology</subject><subject>Motor function measure scale</subject><subject>Muscle Strength - genetics</subject><subject>Muscle Strength - physiology</subject><subject>Muscular Diseases - diagnosis</subject><subject>Muscular Diseases - genetics</subject><subject>Muscular Diseases - physiopathology</subject><subject>Neurology</subject><subject>Phenotype</subject><subject>Respiratory function</subject><subject>Rest - physiology</subject><subject>Severity of Illness Index</subject><subject>Ullrich congenital muscular dystrophy</subject><subject>Vital Capacity</subject><subject>Whole body muscle magnetic resonance imaging</subject><subject>Young Adult</subject><issn>0960-8966</issn><issn>1873-2364</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2014</creationdate><recordtype>article</recordtype><recordid>eNqFkU1r3DAURUVIaaZpf0A2wcts7L4nyZJFoVCmX4FAF026FRpJTjS15alkB-bfV8MkXXTRrt7m3MvjXEIuEBoEFG-3TRxdQwFZg9gA0BOywk6ymjLBT8kKlIC6U0KckVc5bwGwlUK-JGeUM-SypSvCPgaze0jmfjRzsJXb536Jdg5TrEKs1tMwmHsfqx_X1bifdmZ-CD6_Ji96M2T_5umek7vPn27XX-ubb1-u1x9uass5znVLmWRSUYvOcWyd4Yo56hhjBsELBmB4T03fb1omWqVUZy2FjgoQ1vFNx87J1bF3l6Zfi8-zHkO2vrwU_bRkjS0KWUol_z_KlSo4k7SgeERtmnJOvte7FEaT9hpBH7TqrS5a9UGrRtRFa8lcPtUvm9G7P4lnjwV4dwR88fEYfNLZBh-tdyF5O2s3hX_Wv_8rbYcQgzXDT7_3eTstKRbRGnWmGvT3w66HWbE4VIoB-w2YeZpN</recordid><startdate>20140201</startdate><enddate>20140201</enddate><creator>Quijano-Roy, S</creator><creator>Khirani, S</creator><creator>Colella, M</creator><creator>Ramirez, A</creator><creator>Aloui, S</creator><creator>Wehbi, S</creator><creator>de Becdelievre, A</creator><creator>Carlier, R.Y</creator><creator>Allamand, V</creator><creator>Richard, P</creator><creator>Azzi, V</creator><creator>Estournet, B</creator><creator>Fauroux, B</creator><general>Elsevier B.V</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>7X8</scope><scope>7TK</scope></search><sort><creationdate>20140201</creationdate><title>Diaphragmatic dysfunction in Collagen VI myopathies</title><author>Quijano-Roy, S ; Khirani, S ; Colella, M ; Ramirez, A ; Aloui, S ; Wehbi, S ; de Becdelievre, A ; Carlier, R.Y ; Allamand, V ; Richard, P ; Azzi, V ; Estournet, B ; Fauroux, B</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c441t-52373792c1dd415da493d2d333a10e6300a4f2affb53659998cc2082606cd4b83</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2014</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Bethlem myopathy</topic><topic>Child</topic><topic>Collagen Type VI - genetics</topic><topic>Collagen Type VI - metabolism</topic><topic>COLVI-related myopathy</topic><topic>Diagnosis, Differential</topic><topic>Diaphragm</topic><topic>Diaphragm - physiopathology</topic><topic>Female</topic><topic>Genotyping Techniques</topic><topic>Humans</topic><topic>Immunohistochemistry</topic><topic>Male</topic><topic>Motor Activity - physiology</topic><topic>Motor function measure scale</topic><topic>Muscle Strength - genetics</topic><topic>Muscle Strength - physiology</topic><topic>Muscular Diseases - diagnosis</topic><topic>Muscular Diseases - genetics</topic><topic>Muscular Diseases - physiopathology</topic><topic>Neurology</topic><topic>Phenotype</topic><topic>Respiratory function</topic><topic>Rest - physiology</topic><topic>Severity of Illness Index</topic><topic>Ullrich congenital muscular dystrophy</topic><topic>Vital Capacity</topic><topic>Whole body muscle magnetic resonance imaging</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Quijano-Roy, S</creatorcontrib><creatorcontrib>Khirani, S</creatorcontrib><creatorcontrib>Colella, M</creatorcontrib><creatorcontrib>Ramirez, A</creatorcontrib><creatorcontrib>Aloui, S</creatorcontrib><creatorcontrib>Wehbi, S</creatorcontrib><creatorcontrib>de Becdelievre, A</creatorcontrib><creatorcontrib>Carlier, R.Y</creatorcontrib><creatorcontrib>Allamand, V</creatorcontrib><creatorcontrib>Richard, P</creatorcontrib><creatorcontrib>Azzi, V</creatorcontrib><creatorcontrib>Estournet, B</creatorcontrib><creatorcontrib>Fauroux, B</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>MEDLINE - Academic</collection><collection>Neurosciences Abstracts</collection><jtitle>Neuromuscular disorders : NMD</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Quijano-Roy, S</au><au>Khirani, S</au><au>Colella, M</au><au>Ramirez, A</au><au>Aloui, S</au><au>Wehbi, S</au><au>de Becdelievre, A</au><au>Carlier, R.Y</au><au>Allamand, V</au><au>Richard, P</au><au>Azzi, V</au><au>Estournet, B</au><au>Fauroux, B</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Diaphragmatic dysfunction in Collagen VI myopathies</atitle><jtitle>Neuromuscular disorders : NMD</jtitle><addtitle>Neuromuscul Disord</addtitle><date>2014-02-01</date><risdate>2014</risdate><volume>24</volume><issue>2</issue><spage>125</spage><epage>133</epage><pages>125-133</pages><issn>0960-8966</issn><eissn>1873-2364</eissn><abstract>Abstract Collagen VI-related myopathies are hereditary disorders causing progressive restrictive respiratory insufficiency. Specific diaphragm involvement has been suggested by a drop in supine volumes. This pilot study aimed at characterizing the respiratory muscle phenotype in patients with COL6A1 - 3 genes mutations. Lung function, blood gases, muscle strength and respiratory mechanics were measured in 7 patients between 2002 and 2012. Patients were classified as Early-Severe ( n = 3), Moderate-Progressive ( n = 2) and Mild ( n = 2) according to clinical disease presentation. Seven patients (aged 6–28) were evaluated. Forced vital capacity distinguished the Mild group (>60% predicted) from the two other groups (<50% predicted). This distinction was also possible using the motor function measure scale. Diaphragmatic dysfunction at rest was observed in all the Early - Severe and Moderate - Progressive patients. During a voluntary sniff maneuver diaphragmatic dysfunction was observed in all patients, as assessed by a negative gastric pressure. All patients had diaphragmatic fatigue assessed by a tension-time index over the threshold of 0.15. Diaphragmatic dysfunction during a maximal voluntary maneuver and diaphragmatic fatigue are constant features in Collagen VI myopathies. These observations can assist the diagnosis and should be taken in account for the clinical management, with the early detection of sleep-disordered breathing.</abstract><cop>England</cop><pub>Elsevier B.V</pub><pmid>24314752</pmid><doi>10.1016/j.nmd.2013.11.002</doi><tpages>9</tpages></addata></record> |
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| ispartof | Neuromuscular disorders : NMD, 2014-02, Vol.24 (2), p.125-133 |
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| source | ScienceDirect Freedom Collection 2022-2024 |
| subjects | Adolescent Adult Bethlem myopathy Child Collagen Type VI - genetics Collagen Type VI - metabolism COLVI-related myopathy Diagnosis, Differential Diaphragm Diaphragm - physiopathology Female Genotyping Techniques Humans Immunohistochemistry Male Motor Activity - physiology Motor function measure scale Muscle Strength - genetics Muscle Strength - physiology Muscular Diseases - diagnosis Muscular Diseases - genetics Muscular Diseases - physiopathology Neurology Phenotype Respiratory function Rest - physiology Severity of Illness Index Ullrich congenital muscular dystrophy Vital Capacity Whole body muscle magnetic resonance imaging Young Adult |
| title | Diaphragmatic dysfunction in Collagen VI myopathies |
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