Muscle Biopsy and the Clinical Course of Infantile Spinal Muscular Atrophy
Eight infants with severe early infantile spinal muscular atrophy diagnosed by clinical presentation and muscle biopsy were studied. The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of t...
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| Veröffentlicht in: | Journal of child neurology 1991-10, Vol.6 (4), p.324-328 |
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| container_title | Journal of child neurology |
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| creator | Zalneraitis, Edwin L. Halperin, John J. Grunnet, Margaret L. Russman, Barry S. Peress, Nancy |
| description | Eight infants with severe early infantile spinal muscular atrophy diagnosed by clinical presentation and muscle biopsy were studied. The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of small myofibers. We conclude that severe infantile spinal muscular atrophy often results in myofiber atrophy similar to that found in other motor neuron diseases, and it is not solely a hypotrophic process. Muscle biopsy findings are important because they help to establish the diagnosis, but they do not help predict the severity of disease among infants with this condition. (J Child Neurol 1991;6:324-328). |
| doi_str_mv | 10.1177/088307389100600407 |
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The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of small myofibers. We conclude that severe infantile spinal muscular atrophy often results in myofiber atrophy similar to that found in other motor neuron diseases, and it is not solely a hypotrophic process. Muscle biopsy findings are important because they help to establish the diagnosis, but they do not help predict the severity of disease among infants with this condition. 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The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of small myofibers. We conclude that severe infantile spinal muscular atrophy often results in myofiber atrophy similar to that found in other motor neuron diseases, and it is not solely a hypotrophic process. Muscle biopsy findings are important because they help to establish the diagnosis, but they do not help predict the severity of disease among infants with this condition. (J Child Neurol 1991;6:324-328).</description><subject>Basement Membrane - pathology</subject><subject>Biopsy</subject><subject>Female</subject><subject>Humans</subject><subject>Infant</subject><subject>Infant, Newborn</subject><subject>Male</subject><subject>Microscopy, Electron</subject><subject>Motor Skills - physiology</subject><subject>Muscles - pathology</subject><subject>Myofibrils - pathology</subject><subject>Spinal Muscular Atrophies of Childhood - pathology</subject><issn>0883-0738</issn><issn>1708-8283</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>1991</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkDtPwzAUhS0EKqXwB5CQPLGFXj8SO2OJeBQVMQBz5Dg2TZUmwU6G_nscBYkBCaYr3fOdM3wIXRK4IUSIJUjJQDCZEoAEgIM4QnMiQEaSSnaM5iMQjcQpOvN-BwAyTmGGZiTlQBifo6fnweva4Nuq7fwBq6bE_dbgrK6aSqsaZ-3gvMGtxevGqqavAvvaVU2IxuZQK4dXvWu77eEcnVhVe3PxfRfo_f7uLXuMNi8P62y1iTRL0j6iMtbWyIKCiTUrQCWKG1OUUHJSpFyDpDYGoillSaltwgSXpiyISQSxEL4LdD3tdq79HIzv833ltalr1Zh28LmgPGZJDP-ClBCZ8jgNIJ1A7VrvnbF556q9coecQD6azn-bDqWr7_Wh2JvypzKpDflyyr36MPkueAzS_F-LXyPshRc</recordid><startdate>19911001</startdate><enddate>19911001</enddate><creator>Zalneraitis, Edwin L.</creator><creator>Halperin, John J.</creator><creator>Grunnet, Margaret L.</creator><creator>Russman, Barry S.</creator><creator>Peress, Nancy</creator><general>Sage Publications</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>7TK</scope><scope>7X8</scope></search><sort><creationdate>19911001</creationdate><title>Muscle Biopsy and the Clinical Course of Infantile Spinal Muscular Atrophy</title><author>Zalneraitis, Edwin L. ; Halperin, John J. ; Grunnet, Margaret L. ; Russman, Barry S. ; Peress, Nancy</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c369t-285cfe8b20e5c3b0a6a4eebd0d41b94c082f501c2236dcf63748edb1e671f0223</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>1991</creationdate><topic>Basement Membrane - pathology</topic><topic>Biopsy</topic><topic>Female</topic><topic>Humans</topic><topic>Infant</topic><topic>Infant, Newborn</topic><topic>Male</topic><topic>Microscopy, Electron</topic><topic>Motor Skills - physiology</topic><topic>Muscles - pathology</topic><topic>Myofibrils - pathology</topic><topic>Spinal Muscular Atrophies of Childhood - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Zalneraitis, Edwin L.</creatorcontrib><creatorcontrib>Halperin, John J.</creatorcontrib><creatorcontrib>Grunnet, Margaret L.</creatorcontrib><creatorcontrib>Russman, Barry S.</creatorcontrib><creatorcontrib>Peress, Nancy</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Neurosciences Abstracts</collection><collection>MEDLINE - Academic</collection><jtitle>Journal of child neurology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Zalneraitis, Edwin L.</au><au>Halperin, John J.</au><au>Grunnet, Margaret L.</au><au>Russman, Barry S.</au><au>Peress, Nancy</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Muscle Biopsy and the Clinical Course of Infantile Spinal Muscular Atrophy</atitle><jtitle>Journal of child neurology</jtitle><addtitle>J Child Neurol</addtitle><date>1991-10-01</date><risdate>1991</risdate><volume>6</volume><issue>4</issue><spage>324</spage><epage>328</epage><pages>324-328</pages><issn>0883-0738</issn><eissn>1708-8283</eissn><abstract>Eight infants with severe early infantile spinal muscular atrophy diagnosed by clinical presentation and muscle biopsy were studied. The extent of alterations in muscle histology, histochemistry, and ultrastructure did not reflect the relative severity of the clinical presentation or the course of the illness. In seven biopsies, ultrastructural studies demonstrated empty sleeves of basal lamina projecting from the surface of small myofibers. We conclude that severe infantile spinal muscular atrophy often results in myofiber atrophy similar to that found in other motor neuron diseases, and it is not solely a hypotrophic process. Muscle biopsy findings are important because they help to establish the diagnosis, but they do not help predict the severity of disease among infants with this condition. (J Child Neurol 1991;6:324-328).</abstract><cop>Thousand Oaks, CA</cop><pub>Sage Publications</pub><pmid>1940134</pmid><doi>10.1177/088307389100600407</doi><tpages>5</tpages></addata></record> |
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| ispartof | Journal of child neurology, 1991-10, Vol.6 (4), p.324-328 |
| issn | 0883-0738 1708-8283 |
| language | eng |
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| source | MEDLINE; SAGE Complete A-Z List |
| subjects | Basement Membrane - pathology Biopsy Female Humans Infant Infant, Newborn Male Microscopy, Electron Motor Skills - physiology Muscles - pathology Myofibrils - pathology Spinal Muscular Atrophies of Childhood - pathology |
| title | Muscle Biopsy and the Clinical Course of Infantile Spinal Muscular Atrophy |
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