Sensory manifestations in Charcot-Marie-Tooth disease
Involvement of sensory nerves in Charcot‐Marie‐Tooth (CMT) disease is well known, however, sensory symptoms are usually overlooked. To assess the frequency and features of sensory symptoms in a cohort of patients with CMT, we investigated in a prospective study 52 consecutive CMT patients, diagnosed...
Gespeichert in:
| Veröffentlicht in: | Journal of the peripheral nervous system 2004-03, Vol.9 (1), p.7-14 |
|---|---|
| Hauptverfasser: | , , , , |
| Format: | Artikel |
| Sprache: | eng |
| Schlagworte: | |
| Online-Zugang: | Volltext |
| Tags: |
Tag hinzufügen
Keine Tags, Fügen Sie den ersten Tag hinzu!
|
| container_end_page | 14 |
|---|---|
| container_issue | 1 |
| container_start_page | 7 |
| container_title | Journal of the peripheral nervous system |
| container_volume | 9 |
| creator | Gemignani, Franco Melli, Giorgia Alfieri, Sara Inglese, Cristina Marbini, Adriana |
| description | Involvement of sensory nerves in Charcot‐Marie‐Tooth (CMT) disease is well known, however, sensory symptoms are usually overlooked. To assess the frequency and features of sensory symptoms in a cohort of patients with CMT, we investigated in a prospective study 52 consecutive CMT patients, diagnosed on the basis of clinical, neurophysiological, and genetic features and classified in CMT type 1 (CMT1) (20 patients, including 14 with CMT1A) and CMT type 2 (CMT2) (32 patients). Positive sensory symptoms were reported by 28 patients (54%), including neuropathic pain in 6 patients. Pain, either neuropathic or nociceptive, was present in 29 patients (56%) and in 15 patients as a main symptom. Positive sensory symptoms were present in 24 of 32 CMT2 patients (75%) and in 4 of 20 CMT1 patients (20%) (p |
| doi_str_mv | 10.1111/j.1085-9489.2004.09103.x |
| format | Article |
| fullrecord | <record><control><sourceid>proquest_cross</sourceid><recordid>TN_cdi_proquest_miscellaneous_80150595</recordid><sourceformat>XML</sourceformat><sourcesystem>PC</sourcesystem><sourcerecordid>19403298</sourcerecordid><originalsourceid>FETCH-LOGICAL-c4363-2741c6d24bfd99fc89b25f9166a51b76fae80dc9de099ff280a85d32ffcfa5d3</originalsourceid><addsrcrecordid>eNqNkF1PwjAUhhujEfz4C2ZX3m2edu3WXhkDihLFGIh615StDUXYsB0R_r1FUC-1N32TPuc9zYNQhCHB4VxMEwycxYJykRAAmoDAkCarPdTGjIiYA8n3Q_6GWujI-ykAzgUWh6iFKc8xpaKN2FBXvnbraK4qa7RvVGPryke2ijoT5Yq6iR-Uszoe1XUziUrrtfL6BB0YNfP6dHcfo9HN9ahzG98_9u46V_dxQdMsjUlOcZGVhI5NKYQpuBgTZgTOMsXwOM-M0hzKQpQawrMhHBRnZUqMKYwK4Ridb2sXrn5fhs_JufWFns1UpeullxwwAybYnyAWFFIieAD5Fixc7b3TRi6cnSu3lhjkRq2cyo01ubEmN2rll1q5CqNnux3L8VyXv4M7lwG43AIfdqbX_y6W_cGQfeXQEG8brG_06qdBuTeZ5WnO5MugJ5-h2x0-9F_lU_oJjRqXKg</addsrcrecordid><sourcetype>Aggregation Database</sourcetype><iscdi>true</iscdi><recordtype>article</recordtype><pqid>19403298</pqid></control><display><type>article</type><title>Sensory manifestations in Charcot-Marie-Tooth disease</title><source>MEDLINE</source><source>Wiley Online Library Journals Frontfile Complete</source><creator>Gemignani, Franco ; Melli, Giorgia ; Alfieri, Sara ; Inglese, Cristina ; Marbini, Adriana</creator><creatorcontrib>Gemignani, Franco ; Melli, Giorgia ; Alfieri, Sara ; Inglese, Cristina ; Marbini, Adriana</creatorcontrib><description>Involvement of sensory nerves in Charcot‐Marie‐Tooth (CMT) disease is well known, however, sensory symptoms are usually overlooked. To assess the frequency and features of sensory symptoms in a cohort of patients with CMT, we investigated in a prospective study 52 consecutive CMT patients, diagnosed on the basis of clinical, neurophysiological, and genetic features and classified in CMT type 1 (CMT1) (20 patients, including 14 with CMT1A) and CMT type 2 (CMT2) (32 patients). Positive sensory symptoms were reported by 28 patients (54%), including neuropathic pain in 6 patients. Pain, either neuropathic or nociceptive, was present in 29 patients (56%) and in 15 patients as a main symptom. Positive sensory symptoms were present in 24 of 32 CMT2 patients (75%) and in 4 of 20 CMT1 patients (20%) (p < 0.001); there was a presenting manifestation in 11/32 CMT2 patients vs. 1/20 in CMT1 patients (p = 0.018), and one of the main features in 6/32 CMT2 patients vs. 1/20 CMT1 patients. Frequency of positive sensory symptoms in CMT1A patients was similar to that of the entire CMT1 group. Within the CMT2 group, patients with positive sensory symptoms as a main or onset feature (11 patients) had significantly later onset (median 57 vs. 25 years; p = 0.042) and less severely impaired motor action potentials than CMT2 patients without positive sensory symptoms (8 patients). Nociceptive pain was especially frequent in CMT1A patients (10/14, 71%). Sensory manifestations in CMT seem more frequent than previously thought, especially in CMT2; however, their frequency may be different in the genetic subtypes of the disease and/or an expression of phenotypic variability. Sensory symptoms, and in particular pain, may represent an important issue in the management of CMT patients, especially in a physical medicine approach.</description><identifier>ISSN: 1085-9489</identifier><identifier>EISSN: 1529-8027</identifier><identifier>DOI: 10.1111/j.1085-9489.2004.09103.x</identifier><identifier>PMID: 14871449</identifier><language>eng</language><publisher>Oxford, UK; Malden , USA: Blackwell Science Inc</publisher><subject>Adult ; Age of Onset ; Aged ; Aged, 80 and over ; Charcot-Marie-Tooth disease ; Charcot-Marie-Tooth Disease - genetics ; Charcot-Marie-Tooth Disease - pathology ; Charcot-Marie-Tooth Disease - physiopathology ; CMT1 ; CMT2 ; Electrophysiology ; Female ; Humans ; Male ; Middle Aged ; pain ; Pain - physiopathology ; paresthesia ; positive sensory symptoms ; Prospective Studies ; Sensation Disorders - genetics ; Sensation Disorders - pathology ; Sensation Disorders - physiopathology ; Sural Nerve - pathology</subject><ispartof>Journal of the peripheral nervous system, 2004-03, Vol.9 (1), p.7-14</ispartof><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c4363-2741c6d24bfd99fc89b25f9166a51b76fae80dc9de099ff280a85d32ffcfa5d3</citedby><cites>FETCH-LOGICAL-c4363-2741c6d24bfd99fc89b25f9166a51b76fae80dc9de099ff280a85d32ffcfa5d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1111%2Fj.1085-9489.2004.09103.x$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1111%2Fj.1085-9489.2004.09103.x$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1416,27922,27923,45572,45573</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/14871449$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Gemignani, Franco</creatorcontrib><creatorcontrib>Melli, Giorgia</creatorcontrib><creatorcontrib>Alfieri, Sara</creatorcontrib><creatorcontrib>Inglese, Cristina</creatorcontrib><creatorcontrib>Marbini, Adriana</creatorcontrib><title>Sensory manifestations in Charcot-Marie-Tooth disease</title><title>Journal of the peripheral nervous system</title><addtitle>J Peripher Nerv Syst</addtitle><description>Involvement of sensory nerves in Charcot‐Marie‐Tooth (CMT) disease is well known, however, sensory symptoms are usually overlooked. To assess the frequency and features of sensory symptoms in a cohort of patients with CMT, we investigated in a prospective study 52 consecutive CMT patients, diagnosed on the basis of clinical, neurophysiological, and genetic features and classified in CMT type 1 (CMT1) (20 patients, including 14 with CMT1A) and CMT type 2 (CMT2) (32 patients). Positive sensory symptoms were reported by 28 patients (54%), including neuropathic pain in 6 patients. Pain, either neuropathic or nociceptive, was present in 29 patients (56%) and in 15 patients as a main symptom. Positive sensory symptoms were present in 24 of 32 CMT2 patients (75%) and in 4 of 20 CMT1 patients (20%) (p < 0.001); there was a presenting manifestation in 11/32 CMT2 patients vs. 1/20 in CMT1 patients (p = 0.018), and one of the main features in 6/32 CMT2 patients vs. 1/20 CMT1 patients. Frequency of positive sensory symptoms in CMT1A patients was similar to that of the entire CMT1 group. Within the CMT2 group, patients with positive sensory symptoms as a main or onset feature (11 patients) had significantly later onset (median 57 vs. 25 years; p = 0.042) and less severely impaired motor action potentials than CMT2 patients without positive sensory symptoms (8 patients). Nociceptive pain was especially frequent in CMT1A patients (10/14, 71%). Sensory manifestations in CMT seem more frequent than previously thought, especially in CMT2; however, their frequency may be different in the genetic subtypes of the disease and/or an expression of phenotypic variability. Sensory symptoms, and in particular pain, may represent an important issue in the management of CMT patients, especially in a physical medicine approach.</description><subject>Adult</subject><subject>Age of Onset</subject><subject>Aged</subject><subject>Aged, 80 and over</subject><subject>Charcot-Marie-Tooth disease</subject><subject>Charcot-Marie-Tooth Disease - genetics</subject><subject>Charcot-Marie-Tooth Disease - pathology</subject><subject>Charcot-Marie-Tooth Disease - physiopathology</subject><subject>CMT1</subject><subject>CMT2</subject><subject>Electrophysiology</subject><subject>Female</subject><subject>Humans</subject><subject>Male</subject><subject>Middle Aged</subject><subject>pain</subject><subject>Pain - physiopathology</subject><subject>paresthesia</subject><subject>positive sensory symptoms</subject><subject>Prospective Studies</subject><subject>Sensation Disorders - genetics</subject><subject>Sensation Disorders - pathology</subject><subject>Sensation Disorders - physiopathology</subject><subject>Sural Nerve - pathology</subject><issn>1085-9489</issn><issn>1529-8027</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2004</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqNkF1PwjAUhhujEfz4C2ZX3m2edu3WXhkDihLFGIh615StDUXYsB0R_r1FUC-1N32TPuc9zYNQhCHB4VxMEwycxYJykRAAmoDAkCarPdTGjIiYA8n3Q_6GWujI-ykAzgUWh6iFKc8xpaKN2FBXvnbraK4qa7RvVGPryke2ijoT5Yq6iR-Uszoe1XUziUrrtfL6BB0YNfP6dHcfo9HN9ahzG98_9u46V_dxQdMsjUlOcZGVhI5NKYQpuBgTZgTOMsXwOM-M0hzKQpQawrMhHBRnZUqMKYwK4Ridb2sXrn5fhs_JufWFns1UpeullxwwAybYnyAWFFIieAD5Fixc7b3TRi6cnSu3lhjkRq2cyo01ubEmN2rll1q5CqNnux3L8VyXv4M7lwG43AIfdqbX_y6W_cGQfeXQEG8brG_06qdBuTeZ5WnO5MugJ5-h2x0-9F_lU_oJjRqXKg</recordid><startdate>200403</startdate><enddate>200403</enddate><creator>Gemignani, Franco</creator><creator>Melli, Giorgia</creator><creator>Alfieri, Sara</creator><creator>Inglese, Cristina</creator><creator>Marbini, Adriana</creator><general>Blackwell Science Inc</general><scope>BSCLL</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>7TK</scope><scope>7X8</scope></search><sort><creationdate>200403</creationdate><title>Sensory manifestations in Charcot-Marie-Tooth disease</title><author>Gemignani, Franco ; Melli, Giorgia ; Alfieri, Sara ; Inglese, Cristina ; Marbini, Adriana</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4363-2741c6d24bfd99fc89b25f9166a51b76fae80dc9de099ff280a85d32ffcfa5d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2004</creationdate><topic>Adult</topic><topic>Age of Onset</topic><topic>Aged</topic><topic>Aged, 80 and over</topic><topic>Charcot-Marie-Tooth disease</topic><topic>Charcot-Marie-Tooth Disease - genetics</topic><topic>Charcot-Marie-Tooth Disease - pathology</topic><topic>Charcot-Marie-Tooth Disease - physiopathology</topic><topic>CMT1</topic><topic>CMT2</topic><topic>Electrophysiology</topic><topic>Female</topic><topic>Humans</topic><topic>Male</topic><topic>Middle Aged</topic><topic>pain</topic><topic>Pain - physiopathology</topic><topic>paresthesia</topic><topic>positive sensory symptoms</topic><topic>Prospective Studies</topic><topic>Sensation Disorders - genetics</topic><topic>Sensation Disorders - pathology</topic><topic>Sensation Disorders - physiopathology</topic><topic>Sural Nerve - pathology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Gemignani, Franco</creatorcontrib><creatorcontrib>Melli, Giorgia</creatorcontrib><creatorcontrib>Alfieri, Sara</creatorcontrib><creatorcontrib>Inglese, Cristina</creatorcontrib><creatorcontrib>Marbini, Adriana</creatorcontrib><collection>Istex</collection><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 the peripheral nervous system</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Gemignani, Franco</au><au>Melli, Giorgia</au><au>Alfieri, Sara</au><au>Inglese, Cristina</au><au>Marbini, Adriana</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Sensory manifestations in Charcot-Marie-Tooth disease</atitle><jtitle>Journal of the peripheral nervous system</jtitle><addtitle>J Peripher Nerv Syst</addtitle><date>2004-03</date><risdate>2004</risdate><volume>9</volume><issue>1</issue><spage>7</spage><epage>14</epage><pages>7-14</pages><issn>1085-9489</issn><eissn>1529-8027</eissn><abstract>Involvement of sensory nerves in Charcot‐Marie‐Tooth (CMT) disease is well known, however, sensory symptoms are usually overlooked. To assess the frequency and features of sensory symptoms in a cohort of patients with CMT, we investigated in a prospective study 52 consecutive CMT patients, diagnosed on the basis of clinical, neurophysiological, and genetic features and classified in CMT type 1 (CMT1) (20 patients, including 14 with CMT1A) and CMT type 2 (CMT2) (32 patients). Positive sensory symptoms were reported by 28 patients (54%), including neuropathic pain in 6 patients. Pain, either neuropathic or nociceptive, was present in 29 patients (56%) and in 15 patients as a main symptom. Positive sensory symptoms were present in 24 of 32 CMT2 patients (75%) and in 4 of 20 CMT1 patients (20%) (p < 0.001); there was a presenting manifestation in 11/32 CMT2 patients vs. 1/20 in CMT1 patients (p = 0.018), and one of the main features in 6/32 CMT2 patients vs. 1/20 CMT1 patients. Frequency of positive sensory symptoms in CMT1A patients was similar to that of the entire CMT1 group. Within the CMT2 group, patients with positive sensory symptoms as a main or onset feature (11 patients) had significantly later onset (median 57 vs. 25 years; p = 0.042) and less severely impaired motor action potentials than CMT2 patients without positive sensory symptoms (8 patients). Nociceptive pain was especially frequent in CMT1A patients (10/14, 71%). Sensory manifestations in CMT seem more frequent than previously thought, especially in CMT2; however, their frequency may be different in the genetic subtypes of the disease and/or an expression of phenotypic variability. Sensory symptoms, and in particular pain, may represent an important issue in the management of CMT patients, especially in a physical medicine approach.</abstract><cop>Oxford, UK; Malden , USA</cop><pub>Blackwell Science Inc</pub><pmid>14871449</pmid><doi>10.1111/j.1085-9489.2004.09103.x</doi><tpages>8</tpages></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1085-9489 |
| ispartof | Journal of the peripheral nervous system, 2004-03, Vol.9 (1), p.7-14 |
| issn | 1085-9489 1529-8027 |
| language | eng |
| recordid | cdi_proquest_miscellaneous_80150595 |
| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | Adult Age of Onset Aged Aged, 80 and over Charcot-Marie-Tooth disease Charcot-Marie-Tooth Disease - genetics Charcot-Marie-Tooth Disease - pathology Charcot-Marie-Tooth Disease - physiopathology CMT1 CMT2 Electrophysiology Female Humans Male Middle Aged pain Pain - physiopathology paresthesia positive sensory symptoms Prospective Studies Sensation Disorders - genetics Sensation Disorders - pathology Sensation Disorders - physiopathology Sural Nerve - pathology |
| title | Sensory manifestations in Charcot-Marie-Tooth disease |
| url | https://sfx.bib-bvb.de/sfx_tum?ctx_ver=Z39.88-2004&ctx_enc=info:ofi/enc:UTF-8&ctx_tim=2025-01-13T22%3A46%3A28IST&url_ver=Z39.88-2004&url_ctx_fmt=infofi/fmt:kev:mtx:ctx&rfr_id=info:sid/primo.exlibrisgroup.com:primo3-Article-proquest_cross&rft_val_fmt=info:ofi/fmt:kev:mtx:journal&rft.genre=article&rft.atitle=Sensory%20manifestations%20in%20Charcot-Marie-Tooth%20disease&rft.jtitle=Journal%20of%20the%20peripheral%20nervous%20system&rft.au=Gemignani,%20Franco&rft.date=2004-03&rft.volume=9&rft.issue=1&rft.spage=7&rft.epage=14&rft.pages=7-14&rft.issn=1085-9489&rft.eissn=1529-8027&rft_id=info:doi/10.1111/j.1085-9489.2004.09103.x&rft_dat=%3Cproquest_cross%3E19403298%3C/proquest_cross%3E%3Curl%3E%3C/url%3E&disable_directlink=true&sfx.directlink=off&sfx.report_link=0&rft_id=info:oai/&rft_pqid=19403298&rft_id=info:pmid/14871449&rfr_iscdi=true |