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Brain atrophy in congenital neuromuscular disease with uniform type 1 fibers

We report a patient with congenital neuromuscular disease with uniform type 1 fibers. The patient had manifested muscle weakness and running difficulty since early childhood. Ptosis and ophthalmoplegia were evident, in addition to facial and distal weakness. Her serum creatine kinase level was norma...

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Published in:	Pediatric neurology 1997, Vol.16 (1), p.56-58
Main Authors:	Jung, Eun-Young, Hattori, Haruo, Higuchi, Yoshihisa, Mitsuyoshi, Izuru, Kanda, Toyoko
Format:	Article
Language:	English
Subjects:	Atrophy Biological and medical sciences Blepharoptosis - congenital Blepharoptosis - pathology Brain - pathology Cerebral Ventricles - pathology Child Dilatation, Pathologic Diseases of striated muscles. Neuromuscular diseases Electromyography Female Humans Intellectual Disability - pathology Medical sciences Muscle Fibers, Slow-Twitch - pathology Neurology Neuromuscular Diseases - congenital Neuromuscular Diseases - pathology Ophthalmoplegia - congenital Ophthalmoplegia - pathology
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creator	Jung, Eun-Young Hattori, Haruo Higuchi, Yoshihisa Mitsuyoshi, Izuru Kanda, Toyoko
description	We report a patient with congenital neuromuscular disease with uniform type 1 fibers. The patient had manifested muscle weakness and running difficulty since early childhood. Ptosis and ophthalmoplegia were evident, in addition to facial and distal weakness. Her serum creatine kinase level was normal, and electromyography revealed low-amplitude and short duration of motor unit potentials. A muscle biopsy specimen demonstrated absolute predominance of type 1 fibers (>98%) with no diagnostic structures. Her intelligence was borderline (IQ 80), and dilatation of the lateral ventricles was demonstrated by cranial CT. This is the first report of an abnormality in the central nervous system in congenital neuromuscular disease with uniform type 1 fibers.
doi_str_mv	10.1016/S0887-8994(96)00231-7
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The patient had manifested muscle weakness and running difficulty since early childhood. Ptosis and ophthalmoplegia were evident, in addition to facial and distal weakness. Her serum creatine kinase level was normal, and electromyography revealed low-amplitude and short duration of motor unit potentials. A muscle biopsy specimen demonstrated absolute predominance of type 1 fibers (>98%) with no diagnostic structures. Her intelligence was borderline (IQ 80), and dilatation of the lateral ventricles was demonstrated by cranial CT. This is the first report of an abnormality in the central nervous system in congenital neuromuscular disease with uniform type 1 fibers.</description><identifier>ISSN: 0887-8994</identifier><identifier>EISSN: 1873-5150</identifier><identifier>DOI: 10.1016/S0887-8994(96)00231-7</identifier><identifier>PMID: 9044404</identifier><language>eng</language><publisher>New York, NY: Elsevier Inc</publisher><subject>Atrophy ; Biological and medical sciences ; Blepharoptosis - congenital ; Blepharoptosis - pathology ; Brain - pathology ; Cerebral Ventricles - pathology ; Child ; Dilatation, Pathologic ; Diseases of striated muscles. Neuromuscular diseases ; Electromyography ; Female ; Humans ; Intellectual Disability - pathology ; Medical sciences ; Muscle Fibers, Slow-Twitch - pathology ; Neurology ; Neuromuscular Diseases - congenital ; Neuromuscular Diseases - pathology ; Ophthalmoplegia - congenital ; Ophthalmoplegia - pathology</subject><ispartof>Pediatric neurology, 1997, Vol.16 (1), p.56-58</ispartof><rights>1997</rights><rights>1997 INIST-CNRS</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c389t-87d35ea329e138c16f2149d004b1931ef1052ba6feeef14addca05d6ca40603d3</citedby><cites>FETCH-LOGICAL-c389t-87d35ea329e138c16f2149d004b1931ef1052ba6feeef14addca05d6ca40603d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,4024,27923,27924,27925</link.rule.ids><backlink>$$Uhttp://pascal-francis.inist.fr/vibad/index.php?action=getRecordDetail&idt=2587068$$DView record in Pascal Francis$$Hfree_for_read</backlink><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/9044404$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jung, Eun-Young</creatorcontrib><creatorcontrib>Hattori, Haruo</creatorcontrib><creatorcontrib>Higuchi, Yoshihisa</creatorcontrib><creatorcontrib>Mitsuyoshi, Izuru</creatorcontrib><creatorcontrib>Kanda, Toyoko</creatorcontrib><title>Brain atrophy in congenital neuromuscular disease with uniform type 1 fibers</title><title>Pediatric neurology</title><addtitle>Pediatr Neurol</addtitle><description>We report a patient with congenital neuromuscular disease with uniform type 1 fibers. The patient had manifested muscle weakness and running difficulty since early childhood. Ptosis and ophthalmoplegia were evident, in addition to facial and distal weakness. Her serum creatine kinase level was normal, and electromyography revealed low-amplitude and short duration of motor unit potentials. A muscle biopsy specimen demonstrated absolute predominance of type 1 fibers (>98%) with no diagnostic structures. Her intelligence was borderline (IQ 80), and dilatation of the lateral ventricles was demonstrated by cranial CT. This is the first report of an abnormality in the central nervous system in congenital neuromuscular disease with uniform type 1 fibers.</description><subject>Atrophy</subject><subject>Biological and medical sciences</subject><subject>Blepharoptosis - congenital</subject><subject>Blepharoptosis - pathology</subject><subject>Brain - pathology</subject><subject>Cerebral Ventricles - pathology</subject><subject>Child</subject><subject>Dilatation, Pathologic</subject><subject>Diseases of striated muscles. Neuromuscular diseases</subject><subject>Electromyography</subject><subject>Female</subject><subject>Humans</subject><subject>Intellectual Disability - pathology</subject><subject>Medical sciences</subject><subject>Muscle Fibers, Slow-Twitch - pathology</subject><subject>Neurology</subject><subject>Neuromuscular Diseases - congenital</subject><subject>Neuromuscular Diseases - pathology</subject><subject>Ophthalmoplegia - congenital</subject><subject>Ophthalmoplegia - pathology</subject><issn>0887-8994</issn><issn>1873-5150</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1997</creationdate><recordtype>article</recordtype><recordid>eNqFkMtKxDAUhoMoOo4-gpCFiC6qJ02aJitR8QYDLtR1yCSnGullTFpl3t7qDLN1dX4437nwEXLE4JwBkxfPoFSZKa3FqZZnADlnWblFJkyVPCtYAdtkskH2yH5KHwBQ6Fzskl0NQggQEzK7jja01PaxW7wv6Rhd175hG3pb0xaH2DVDckNtI_UhoU1Iv0P_Toc2VF1saL9cIGW0CnOM6YDsVLZOeLiuU_J6d_ty85DNnu4fb65mmeNK95kqPS_Q8lwj48oxWeVMaA8g5kxzhhWDIp9bWSGOWVjvnYXCS2cFSOCeT8nJau8idp8Dpt40ITmsa9tiNyRTKiUkMBjBYgW62KUUsTKLGBobl4aB-bVo_iyaX0VGS_Nn0ZTj3NH6wDBv0G-m1trG_vG6b5OzdRVt60LaYHmhSpBqxC5XGI4yvgJGk1zA1qEPEV1vfBf-eeQHLsGO5A</recordid><startdate>1997</startdate><enddate>1997</enddate><creator>Jung, Eun-Young</creator><creator>Hattori, Haruo</creator><creator>Higuchi, Yoshihisa</creator><creator>Mitsuyoshi, Izuru</creator><creator>Kanda, Toyoko</creator><general>Elsevier Inc</general><general>Elsevier</general><scope>IQODW</scope><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></search><sort><creationdate>1997</creationdate><title>Brain atrophy in congenital neuromuscular disease with uniform type 1 fibers</title><author>Jung, Eun-Young ; Hattori, Haruo ; Higuchi, Yoshihisa ; Mitsuyoshi, Izuru ; Kanda, Toyoko</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c389t-87d35ea329e138c16f2149d004b1931ef1052ba6feeef14addca05d6ca40603d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1997</creationdate><topic>Atrophy</topic><topic>Biological and medical sciences</topic><topic>Blepharoptosis - congenital</topic><topic>Blepharoptosis - pathology</topic><topic>Brain - pathology</topic><topic>Cerebral Ventricles - pathology</topic><topic>Child</topic><topic>Dilatation, Pathologic</topic><topic>Diseases of striated muscles. Neuromuscular diseases</topic><topic>Electromyography</topic><topic>Female</topic><topic>Humans</topic><topic>Intellectual Disability - pathology</topic><topic>Medical sciences</topic><topic>Muscle Fibers, Slow-Twitch - pathology</topic><topic>Neurology</topic><topic>Neuromuscular Diseases - congenital</topic><topic>Neuromuscular Diseases - pathology</topic><topic>Ophthalmoplegia - congenital</topic><topic>Ophthalmoplegia - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jung, Eun-Young</creatorcontrib><creatorcontrib>Hattori, Haruo</creatorcontrib><creatorcontrib>Higuchi, Yoshihisa</creatorcontrib><creatorcontrib>Mitsuyoshi, Izuru</creatorcontrib><creatorcontrib>Kanda, Toyoko</creatorcontrib><collection>Pascal-Francis</collection><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><jtitle>Pediatric neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jung, Eun-Young</au><au>Hattori, Haruo</au><au>Higuchi, Yoshihisa</au><au>Mitsuyoshi, Izuru</au><au>Kanda, Toyoko</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Brain atrophy in congenital neuromuscular disease with uniform type 1 fibers</atitle><jtitle>Pediatric neurology</jtitle><addtitle>Pediatr Neurol</addtitle><date>1997</date><risdate>1997</risdate><volume>16</volume><issue>1</issue><spage>56</spage><epage>58</epage><pages>56-58</pages><issn>0887-8994</issn><eissn>1873-5150</eissn><abstract>We report a patient with congenital neuromuscular disease with uniform type 1 fibers. The patient had manifested muscle weakness and running difficulty since early childhood. Ptosis and ophthalmoplegia were evident, in addition to facial and distal weakness. Her serum creatine kinase level was normal, and electromyography revealed low-amplitude and short duration of motor unit potentials. A muscle biopsy specimen demonstrated absolute predominance of type 1 fibers (>98%) with no diagnostic structures. Her intelligence was borderline (IQ 80), and dilatation of the lateral ventricles was demonstrated by cranial CT. This is the first report of an abnormality in the central nervous system in congenital neuromuscular disease with uniform type 1 fibers.</abstract><cop>New York, NY</cop><pub>Elsevier Inc</pub><pmid>9044404</pmid><doi>10.1016/S0887-8994(96)00231-7</doi><tpages>3</tpages></addata></record>
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subjects	Atrophy Biological and medical sciences Blepharoptosis - congenital Blepharoptosis - pathology Brain - pathology Cerebral Ventricles - pathology Child Dilatation, Pathologic Diseases of striated muscles. Neuromuscular diseases Electromyography Female Humans Intellectual Disability - pathology Medical sciences Muscle Fibers, Slow-Twitch - pathology Neurology Neuromuscular Diseases - congenital Neuromuscular Diseases - pathology Ophthalmoplegia - congenital Ophthalmoplegia - pathology
title	Brain atrophy in congenital neuromuscular disease with uniform type 1 fibers
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