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Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome: Report of 7 Children

Seven children (5 male, 2 female) were seen over the last 16 years with rigid spine syndrome. Six children had rigid spinal muscular dystrophy (selenoprotein N1–related myopathy [SEPN1RM]) and 1 had myopathy associated with rigid spine. The main presenting complaint in all was difficulty in bending...

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Published in:	Journal of child neurology 2014-11, Vol.29 (11), p.1436-1440
Main Authors:	Koul, Roshan, Al-Yarubi, Saif, Al-Kindy, Hussein, Al-Futaisi, Amna, Al-Thihli, Khalid, Chacko, Poovathoor Alexander, Sankhla, Dilip
Format:	Article
Language:	English
Subjects:	Adolescent Child Child, Preschool Diagnosis, Differential Female Humans Male Mallory Bodies - genetics Mallory Bodies - pathology Muscular Diseases - genetics Muscular Diseases - pathology Muscular Diseases - physiopathology Muscular Dystrophies - diagnosis Muscular Dystrophies - genetics Muscular Dystrophies - pathology Muscular Dystrophies - physiopathology Scoliosis - diagnosis Scoliosis - genetics Scoliosis - pathology Scoliosis - physiopathology Tomography, X-Ray Computed
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creator	Koul, Roshan Al-Yarubi, Saif Al-Kindy, Hussein Al-Futaisi, Amna Al-Thihli, Khalid Chacko, Poovathoor Alexander Sankhla, Dilip
description	Seven children (5 male, 2 female) were seen over the last 16 years with rigid spine syndrome. Six children had rigid spinal muscular dystrophy (selenoprotein N1–related myopathy [SEPN1RM]) and 1 had myopathy associated with rigid spine. The main presenting complaint in all was difficulty in bending the spine. The diagnosis was made on clinical features and imaging of the paraspinal muscles. Muscle histopathology revealed minimal myopathic changes to severe muscle degeneration. Genetic testing, which was only available for the last case, for selenoprotein was negative.
doi_str_mv	10.1177/0883073813479173
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Genetic testing, which was only available for the last case, for selenoprotein was negative.</description><identifier>ISSN: 0883-0738</identifier><identifier>EISSN: 1708-8283</identifier><identifier>DOI: 10.1177/0883073813479173</identifier><identifier>PMID: 23481446</identifier><language>eng</language><publisher>Los Angeles, CA: SAGE Publications</publisher><subject>Adolescent ; Child ; Child, Preschool ; Diagnosis, Differential ; Female ; Humans ; Male ; Mallory Bodies - genetics ; Mallory Bodies - pathology ; Muscular Diseases - genetics ; Muscular Diseases - pathology ; Muscular Diseases - physiopathology ; Muscular Dystrophies - diagnosis ; Muscular Dystrophies - genetics ; Muscular Dystrophies - pathology ; Muscular Dystrophies - physiopathology ; Scoliosis - diagnosis ; Scoliosis - genetics ; Scoliosis - pathology ; Scoliosis - physiopathology ; Tomography, X-Ray Computed</subject><ispartof>Journal of child neurology, 2014-11, Vol.29 (11), p.1436-1440</ispartof><rights>The Author(s) 2013</rights><rights>The Author(s) 2013.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c323t-c27c1a1d34c6084525ef5a9710767a6b9a0a104b23ee80a6de0b554197fc0403</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><link.rule.ids>314,780,784,27923,27924,79235</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/23481446$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Koul, Roshan</creatorcontrib><creatorcontrib>Al-Yarubi, Saif</creatorcontrib><creatorcontrib>Al-Kindy, Hussein</creatorcontrib><creatorcontrib>Al-Futaisi, Amna</creatorcontrib><creatorcontrib>Al-Thihli, Khalid</creatorcontrib><creatorcontrib>Chacko, Poovathoor Alexander</creatorcontrib><creatorcontrib>Sankhla, Dilip</creatorcontrib><title>Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome: Report of 7 Children</title><title>Journal of child neurology</title><addtitle>J Child Neurol</addtitle><description>Seven children (5 male, 2 female) were seen over the last 16 years with rigid spine syndrome. 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Six children had rigid spinal muscular dystrophy (selenoprotein N1–related myopathy [SEPN1RM]) and 1 had myopathy associated with rigid spine. The main presenting complaint in all was difficulty in bending the spine. The diagnosis was made on clinical features and imaging of the paraspinal muscles. Muscle histopathology revealed minimal myopathic changes to severe muscle degeneration. Genetic testing, which was only available for the last case, for selenoprotein was negative.</abstract><cop>Los Angeles, CA</cop><pub>SAGE Publications</pub><pmid>23481446</pmid><doi>10.1177/0883073813479173</doi><tpages>5</tpages></addata></record>
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subjects	Adolescent Child Child, Preschool Diagnosis, Differential Female Humans Male Mallory Bodies - genetics Mallory Bodies - pathology Muscular Diseases - genetics Muscular Diseases - pathology Muscular Diseases - physiopathology Muscular Dystrophies - diagnosis Muscular Dystrophies - genetics Muscular Dystrophies - pathology Muscular Dystrophies - physiopathology Scoliosis - diagnosis Scoliosis - genetics Scoliosis - pathology Scoliosis - physiopathology Tomography, X-Ray Computed
title	Rigid Spinal Muscular Dystrophy and Rigid Spine Syndrome: Report of 7 Children
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