Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint
This first description of the oculopharyngeal muscular dystrophy (OPMD) phenotype in Dutch patients shows that limb girdle weakness can occur early in the course of disease and can give the first and major complaint in OPMD patients. The aim of this study was to examine clinically, histologically an...
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| Veröffentlicht in: | Journal of neurology 2003-11, Vol.250 (11), p.1307-1312 |
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| container_title | Journal of neurology |
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| creator | VAN DER SLUIJS, Barbara M HOEFSLOOT, Lies H PADBERG, George W VAN DER MAAREL, Silvère M VAN ENGELEN, Baziel G. M |
| description | This first description of the oculopharyngeal muscular dystrophy (OPMD) phenotype in Dutch patients shows that limb girdle weakness can occur early in the course of disease and can give the first and major complaint in OPMD patients. The aim of this study was to examine clinically, histologically and genetically all Dutch OPMD patients known at the Neuromuscular Centre Nijmegen, to measure the limb girdle weakness (MRC scale) and to quantify the consequences of the limb girdle weakness on daily activities (Rankin scale). Remarkable in this population was the early onset and the severity of the limb girdle weakness. We found a higher percentage of patients with limb girdle weakness than reported before in non-Dutch OPMD populations. This limb girdle weakness caused limitations in daily activities more than the other symptoms of OPMD. It was difficult to compare the severity of the limb girdle weakness of Dutch patients with other patients because of the lack of data related to quantification of limb girdle weakness in non-Dutch OPMD patients. Because of the influence of the limb girdle weakness on the daily activities of the patients, we recommend that more attention is paid to the proximal limb muscles in OPMD patients early in the course of the disease. |
| doi_str_mv | 10.1007/s00415-003-0201-6 |
| format | Article |
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M</creator><creatorcontrib>VAN DER SLUIJS, Barbara M ; HOEFSLOOT, Lies H ; PADBERG, George W ; VAN DER MAAREL, Silvère M ; VAN ENGELEN, Baziel G. M</creatorcontrib><description>This first description of the oculopharyngeal muscular dystrophy (OPMD) phenotype in Dutch patients shows that limb girdle weakness can occur early in the course of disease and can give the first and major complaint in OPMD patients. The aim of this study was to examine clinically, histologically and genetically all Dutch OPMD patients known at the Neuromuscular Centre Nijmegen, to measure the limb girdle weakness (MRC scale) and to quantify the consequences of the limb girdle weakness on daily activities (Rankin scale). Remarkable in this population was the early onset and the severity of the limb girdle weakness. We found a higher percentage of patients with limb girdle weakness than reported before in non-Dutch OPMD populations. This limb girdle weakness caused limitations in daily activities more than the other symptoms of OPMD. It was difficult to compare the severity of the limb girdle weakness of Dutch patients with other patients because of the lack of data related to quantification of limb girdle weakness in non-Dutch OPMD patients. Because of the influence of the limb girdle weakness on the daily activities of the patients, we recommend that more attention is paid to the proximal limb muscles in OPMD patients early in the course of the disease.</description><identifier>ISSN: 0340-5354</identifier><identifier>EISSN: 1432-1459</identifier><identifier>DOI: 10.1007/s00415-003-0201-6</identifier><identifier>PMID: 14648146</identifier><identifier>CODEN: JNRYA9</identifier><language>eng</language><publisher>Berlin: Springer</publisher><subject>Adult ; Biological and medical sciences ; Biopsy ; Blepharoptosis - etiology ; Deglutition Disorders - etiology ; Diseases of striated muscles. Neuromuscular diseases ; DNA Repeat Expansion ; Dysphagia ; Extremities - pathology ; Extremities - physiopathology ; Female ; Genotype & phenotype ; Humans ; Male ; Medical sciences ; Microscopy, Electron ; Middle Aged ; Muscle Weakness - etiology ; Muscle Weakness - genetics ; Muscle, Skeletal - ultrastructure ; Muscular dystrophy ; Muscular Dystrophy, Oculopharyngeal - complications ; Muscular Dystrophy, Oculopharyngeal - genetics ; Muscular Dystrophy, Oculopharyngeal - physiopathology ; Neurology ; Poly(A)-Binding Protein II - genetics ; Polymerase Chain Reaction ; Proteins ; Questionnaires</subject><ispartof>Journal of neurology, 2003-11, Vol.250 (11), p.1307-1312</ispartof><rights>2004 INIST-CNRS</rights><rights>Copyright Springer-Verlag 2003</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c323t-970a9e595fe3bc1b1c081666ca69ae02c4eb7fb12ebeb48dcf1014aedf8404293</citedby></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=15310468$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14648146$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>VAN DER SLUIJS, Barbara M</creatorcontrib><creatorcontrib>HOEFSLOOT, Lies H</creatorcontrib><creatorcontrib>PADBERG, George W</creatorcontrib><creatorcontrib>VAN DER MAAREL, Silvère M</creatorcontrib><creatorcontrib>VAN ENGELEN, Baziel G. M</creatorcontrib><title>Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint</title><title>Journal of neurology</title><addtitle>J Neurol</addtitle><description>This first description of the oculopharyngeal muscular dystrophy (OPMD) phenotype in Dutch patients shows that limb girdle weakness can occur early in the course of disease and can give the first and major complaint in OPMD patients. The aim of this study was to examine clinically, histologically and genetically all Dutch OPMD patients known at the Neuromuscular Centre Nijmegen, to measure the limb girdle weakness (MRC scale) and to quantify the consequences of the limb girdle weakness on daily activities (Rankin scale). Remarkable in this population was the early onset and the severity of the limb girdle weakness. We found a higher percentage of patients with limb girdle weakness than reported before in non-Dutch OPMD populations. This limb girdle weakness caused limitations in daily activities more than the other symptoms of OPMD. It was difficult to compare the severity of the limb girdle weakness of Dutch patients with other patients because of the lack of data related to quantification of limb girdle weakness in non-Dutch OPMD patients. Because of the influence of the limb girdle weakness on the daily activities of the patients, we recommend that more attention is paid to the proximal limb muscles in OPMD patients early in the course of the disease.</description><subject>Adult</subject><subject>Biological and medical sciences</subject><subject>Biopsy</subject><subject>Blepharoptosis - etiology</subject><subject>Deglutition Disorders - etiology</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>DNA Repeat Expansion</subject><subject>Dysphagia</subject><subject>Extremities - pathology</subject><subject>Extremities - physiopathology</subject><subject>Female</subject><subject>Genotype & phenotype</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Microscopy, Electron</subject><subject>Middle Aged</subject><subject>Muscle Weakness - etiology</subject><subject>Muscle Weakness - genetics</subject><subject>Muscle, Skeletal - ultrastructure</subject><subject>Muscular dystrophy</subject><subject>Muscular Dystrophy, Oculopharyngeal - complications</subject><subject>Muscular Dystrophy, Oculopharyngeal - genetics</subject><subject>Muscular Dystrophy, Oculopharyngeal - physiopathology</subject><subject>Neurology</subject><subject>Poly(A)-Binding Protein II - genetics</subject><subject>Polymerase Chain Reaction</subject><subject>Proteins</subject><subject>Questionnaires</subject><issn>0340-5354</issn><issn>1432-1459</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><sourceid>ABUWG</sourceid><sourceid>AFKRA</sourceid><sourceid>BENPR</sourceid><sourceid>CCPQU</sourceid><recordid>eNpFkEtrwzAMgM3YWLtuP2CXYQY7ZpPiR5PjKHtBoZftbGzHadPl0dkJpf9-Lg30IoH0SUIfIfcIzwgwfwkAHEUCwBJIARN5QabIWZogF_klmQLjkAgm-ITchLAFgCw2rskEueRZDFOyWtmh7nYb7Q_t2umaNkOIFe1pcQi9j50D3Vf9htZVY-i68kXt6N7p39aFQHWgjd52ntqu2dW6avtbclXqOri7Mc_Iz_vb9-IzWa4-vhavy8SylPVJPgedO5GL0jFj0aCFDKWUVstcO0gtd2ZeGkydcYZnhS0RkGtXlBkHnuZsRh5Pe3e--xtc6NW2G3wbT6oUM2QoRBYhPEHWdyF4V6qdr5r4qkJQR4PqZFBFg-poUMk48zAuHkzjivPEqCwCTyOgg9V16XVrq3DmBEPgMmP_U8R5wg</recordid><startdate>20031101</startdate><enddate>20031101</enddate><creator>VAN DER SLUIJS, Barbara M</creator><creator>HOEFSLOOT, Lies H</creator><creator>PADBERG, George W</creator><creator>VAN DER MAAREL, Silvère M</creator><creator>VAN ENGELEN, Baziel G. 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M</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c323t-970a9e595fe3bc1b1c081666ca69ae02c4eb7fb12ebeb48dcf1014aedf8404293</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Adult</topic><topic>Biological and medical sciences</topic><topic>Biopsy</topic><topic>Blepharoptosis - etiology</topic><topic>Deglutition Disorders - etiology</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>DNA Repeat Expansion</topic><topic>Dysphagia</topic><topic>Extremities - pathology</topic><topic>Extremities - physiopathology</topic><topic>Female</topic><topic>Genotype & phenotype</topic><topic>Humans</topic><topic>Male</topic><topic>Medical sciences</topic><topic>Microscopy, Electron</topic><topic>Middle Aged</topic><topic>Muscle Weakness - etiology</topic><topic>Muscle Weakness - genetics</topic><topic>Muscle, Skeletal - ultrastructure</topic><topic>Muscular dystrophy</topic><topic>Muscular Dystrophy, Oculopharyngeal - complications</topic><topic>Muscular Dystrophy, Oculopharyngeal - genetics</topic><topic>Muscular Dystrophy, Oculopharyngeal - physiopathology</topic><topic>Neurology</topic><topic>Poly(A)-Binding Protein II - genetics</topic><topic>Polymerase Chain Reaction</topic><topic>Proteins</topic><topic>Questionnaires</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>VAN DER SLUIJS, Barbara M</creatorcontrib><creatorcontrib>HOEFSLOOT, Lies H</creatorcontrib><creatorcontrib>PADBERG, George W</creatorcontrib><creatorcontrib>VAN DER MAAREL, Silvère M</creatorcontrib><creatorcontrib>VAN ENGELEN, Baziel G. 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M</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint</atitle><jtitle>Journal of neurology</jtitle><addtitle>J Neurol</addtitle><date>2003-11-01</date><risdate>2003</risdate><volume>250</volume><issue>11</issue><spage>1307</spage><epage>1312</epage><pages>1307-1312</pages><issn>0340-5354</issn><eissn>1432-1459</eissn><coden>JNRYA9</coden><abstract>This first description of the oculopharyngeal muscular dystrophy (OPMD) phenotype in Dutch patients shows that limb girdle weakness can occur early in the course of disease and can give the first and major complaint in OPMD patients. The aim of this study was to examine clinically, histologically and genetically all Dutch OPMD patients known at the Neuromuscular Centre Nijmegen, to measure the limb girdle weakness (MRC scale) and to quantify the consequences of the limb girdle weakness on daily activities (Rankin scale). Remarkable in this population was the early onset and the severity of the limb girdle weakness. We found a higher percentage of patients with limb girdle weakness than reported before in non-Dutch OPMD populations. This limb girdle weakness caused limitations in daily activities more than the other symptoms of OPMD. It was difficult to compare the severity of the limb girdle weakness of Dutch patients with other patients because of the lack of data related to quantification of limb girdle weakness in non-Dutch OPMD patients. Because of the influence of the limb girdle weakness on the daily activities of the patients, we recommend that more attention is paid to the proximal limb muscles in OPMD patients early in the course of the disease.</abstract><cop>Berlin</cop><pub>Springer</pub><pmid>14648146</pmid><doi>10.1007/s00415-003-0201-6</doi><tpages>6</tpages></addata></record> |
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| subjects | Adult Biological and medical sciences Biopsy Blepharoptosis - etiology Deglutition Disorders - etiology Diseases of striated muscles. Neuromuscular diseases DNA Repeat Expansion Dysphagia Extremities - pathology Extremities - physiopathology Female Genotype & phenotype Humans Male Medical sciences Microscopy, Electron Middle Aged Muscle Weakness - etiology Muscle Weakness - genetics Muscle, Skeletal - ultrastructure Muscular dystrophy Muscular Dystrophy, Oculopharyngeal - complications Muscular Dystrophy, Oculopharyngeal - genetics Muscular Dystrophy, Oculopharyngeal - physiopathology Neurology Poly(A)-Binding Protein II - genetics Polymerase Chain Reaction Proteins Questionnaires |
| title | Oculopharyngeal muscular dystrophy with limb girdle weakness as major complaint |
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