The myotonic dystrophy experience: a North American cross‐sectional study
ABSTRACT Introduction: Myotonic dystrophy (DM) is a chronic, multisystemic, neurological condition. Patients and caregivers are uniquely suited to identify what symptoms are most important and highlight the unmet needs that are most relevant to DM. Methods: We conducted a North American, cross‐secti...
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| Veröffentlicht in: | Muscle & nerve 2019-04, Vol.59 (4), p.457-464 |
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| container_title | Muscle & nerve |
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| creator | Hagerman, Katharine A. Howe, Sarah J. Heatwole, Chad R. |
| description | ABSTRACT
Introduction: Myotonic dystrophy (DM) is a chronic, multisystemic, neurological condition. Patients and caregivers are uniquely suited to identify what symptoms are most important and highlight the unmet needs that are most relevant to DM. Methods: We conducted a North American, cross‐sectional study of people with DM type‐1, congenital DM, and DM type‐2 and their family members. We sent patients and caregivers separate surveys to identify and quantitate the issues of greatest importance, examine the differences between groups, and identify the most important challenges experienced by this population. Results: 1,180 people with DM and 402 family members/caregivers responded to the surveys. They reported considerable physical and cognitive symptoms, extensive diagnostic delays, and varying clinical phenotypes on the basis of DM type. Discussion: Marked disease burden and numerous unmet needs exist in DM. These needs vary based on DM type and highlight the complex clinical phenotypes of these neurological disorders. Muscle Nerve 59:457–464, 2019 |
| doi_str_mv | 10.1002/mus.26420 |
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Introduction: Myotonic dystrophy (DM) is a chronic, multisystemic, neurological condition. Patients and caregivers are uniquely suited to identify what symptoms are most important and highlight the unmet needs that are most relevant to DM. Methods: We conducted a North American, cross‐sectional study of people with DM type‐1, congenital DM, and DM type‐2 and their family members. We sent patients and caregivers separate surveys to identify and quantitate the issues of greatest importance, examine the differences between groups, and identify the most important challenges experienced by this population. Results: 1,180 people with DM and 402 family members/caregivers responded to the surveys. They reported considerable physical and cognitive symptoms, extensive diagnostic delays, and varying clinical phenotypes on the basis of DM type. Discussion: Marked disease burden and numerous unmet needs exist in DM. These needs vary based on DM type and highlight the complex clinical phenotypes of these neurological disorders. Muscle Nerve 59:457–464, 2019</description><identifier>ISSN: 0148-639X</identifier><identifier>EISSN: 1097-4598</identifier><identifier>DOI: 10.1002/mus.26420</identifier><identifier>PMID: 30677147</identifier><language>eng</language><publisher>United States: Wiley Subscription Services, Inc</publisher><subject>caregiver ; Caregivers ; Clinical ; Clinical s ; Cognitive ability ; Cross-sectional studies ; Diagnostic systems ; Dystrophy ; Muscles ; Myotonic dystrophy ; Neurological diseases ; neuromuscular disease ; patient report ; Patients ; Phenotypes ; Polls & surveys ; Signs and symptoms ; unmet needs</subject><ispartof>Muscle & nerve, 2019-04, Vol.59 (4), p.457-464</ispartof><rights>2019 The Authors. published by Wiley Periodicals, Inc.</rights><rights>2019 The Authors. Muscle & Nerve published by Wiley Periodicals, Inc.</rights><rights>2019 Wiley Periodicals, Inc.</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c5090-d1413233e18b0fce79cc35c362eee00cb05433c5e808f14e6d8bdf9d657a5c7d3</citedby><cites>FETCH-LOGICAL-c5090-d1413233e18b0fce79cc35c362eee00cb05433c5e808f14e6d8bdf9d657a5c7d3</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktopdf>$$Uhttps://onlinelibrary.wiley.com/doi/pdf/10.1002%2Fmus.26420$$EPDF$$P50$$Gwiley$$Hfree_for_read</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmus.26420$$EHTML$$P50$$Gwiley$$Hfree_for_read</linktohtml><link.rule.ids>230,314,780,784,885,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/30677147$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Hagerman, Katharine A.</creatorcontrib><creatorcontrib>Howe, Sarah J.</creatorcontrib><creatorcontrib>Heatwole, Chad R.</creatorcontrib><creatorcontrib>Christopher Project Reference Group</creatorcontrib><creatorcontrib>the Christopher Project Reference Group</creatorcontrib><title>The myotonic dystrophy experience: a North American cross‐sectional study</title><title>Muscle & nerve</title><addtitle>Muscle Nerve</addtitle><description>ABSTRACT
Introduction: Myotonic dystrophy (DM) is a chronic, multisystemic, neurological condition. Patients and caregivers are uniquely suited to identify what symptoms are most important and highlight the unmet needs that are most relevant to DM. Methods: We conducted a North American, cross‐sectional study of people with DM type‐1, congenital DM, and DM type‐2 and their family members. We sent patients and caregivers separate surveys to identify and quantitate the issues of greatest importance, examine the differences between groups, and identify the most important challenges experienced by this population. Results: 1,180 people with DM and 402 family members/caregivers responded to the surveys. They reported considerable physical and cognitive symptoms, extensive diagnostic delays, and varying clinical phenotypes on the basis of DM type. Discussion: Marked disease burden and numerous unmet needs exist in DM. These needs vary based on DM type and highlight the complex clinical phenotypes of these neurological disorders. Muscle Nerve 59:457–464, 2019</description><subject>caregiver</subject><subject>Caregivers</subject><subject>Clinical</subject><subject>Clinical s</subject><subject>Cognitive ability</subject><subject>Cross-sectional studies</subject><subject>Diagnostic systems</subject><subject>Dystrophy</subject><subject>Muscles</subject><subject>Myotonic dystrophy</subject><subject>Neurological diseases</subject><subject>neuromuscular disease</subject><subject>patient report</subject><subject>Patients</subject><subject>Phenotypes</subject><subject>Polls & surveys</subject><subject>Signs and symptoms</subject><subject>unmet needs</subject><issn>0148-639X</issn><issn>1097-4598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2019</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><sourceid>WIN</sourceid><recordid>eNp1kc9O3DAQh62Kqiy0h74AisSlHMKO438xh0oIQVuVtoeC1JvldSZsUBIvdtKSG4_QZ-yTNNmlCCpxGmnm06eZ-RHylsIhBcjmTR8PM8kzeEFmFLRKudD5FpkB5Xkqmf6xTXZivAYAmkv1imwzkEpRrmbk88USk2bwnW8rlxRD7IJfLYcEb1cYKmwdHiU2-epDt0yOm7HlbJu44GP8c_c7ousq39o6iV1fDK_Jy9LWEd_c111yeXZ6cfIxPf_24dPJ8XnqBGhIC8opyxhDmi-gdKi0c0w4JjNEBHALEJwxJzCHvKQcZZEvilIXUigrnCrYLnm_8a76RYOFw7YLtjarUDU2DMbbyjydtNXSXPmfRgoNUshR8O5eEPxNj7EzTRUd1rVt0ffRZFRprjjjE7r_H3rt-zCePFEacgZ8TR1sqPVnApYPy1AwU0SmmbRTRCO793j7B_JfJiMw3wC_qhqH503my-X3jfIvyAidRg</recordid><startdate>201904</startdate><enddate>201904</enddate><creator>Hagerman, Katharine A.</creator><creator>Howe, Sarah J.</creator><creator>Heatwole, Chad R.</creator><general>Wiley Subscription Services, Inc</general><general>John Wiley and Sons Inc</general><scope>24P</scope><scope>WIN</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>7T5</scope><scope>7TK</scope><scope>7TM</scope><scope>7TS</scope><scope>7U7</scope><scope>7U9</scope><scope>C1K</scope><scope>H94</scope><scope>K9.</scope><scope>NAPCQ</scope><scope>7X8</scope><scope>5PM</scope></search><sort><creationdate>201904</creationdate><title>The myotonic dystrophy experience: a North American cross‐sectional study</title><author>Hagerman, Katharine A. ; Howe, Sarah J. ; Heatwole, Chad R.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c5090-d1413233e18b0fce79cc35c362eee00cb05433c5e808f14e6d8bdf9d657a5c7d3</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2019</creationdate><topic>caregiver</topic><topic>Caregivers</topic><topic>Clinical</topic><topic>Clinical s</topic><topic>Cognitive ability</topic><topic>Cross-sectional studies</topic><topic>Diagnostic systems</topic><topic>Dystrophy</topic><topic>Muscles</topic><topic>Myotonic dystrophy</topic><topic>Neurological diseases</topic><topic>neuromuscular disease</topic><topic>patient report</topic><topic>Patients</topic><topic>Phenotypes</topic><topic>Polls & surveys</topic><topic>Signs and symptoms</topic><topic>unmet needs</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Hagerman, Katharine A.</creatorcontrib><creatorcontrib>Howe, Sarah J.</creatorcontrib><creatorcontrib>Heatwole, Chad R.</creatorcontrib><creatorcontrib>Christopher Project Reference Group</creatorcontrib><creatorcontrib>the Christopher Project Reference Group</creatorcontrib><collection>Wiley Online Library Open Access</collection><collection>Wiley Online Library (Open Access Collection)</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Immunology Abstracts</collection><collection>Neurosciences Abstracts</collection><collection>Nucleic Acids Abstracts</collection><collection>Physical Education Index</collection><collection>Toxicology Abstracts</collection><collection>Virology and AIDS Abstracts</collection><collection>Environmental Sciences and Pollution Management</collection><collection>AIDS and Cancer Research Abstracts</collection><collection>ProQuest Health & Medical Complete (Alumni)</collection><collection>Nursing & Allied Health Premium</collection><collection>MEDLINE - Academic</collection><collection>PubMed Central (Full Participant titles)</collection><jtitle>Muscle & nerve</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Hagerman, Katharine A.</au><au>Howe, Sarah J.</au><au>Heatwole, Chad R.</au><aucorp>Christopher Project Reference Group</aucorp><aucorp>the Christopher Project Reference Group</aucorp><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>The myotonic dystrophy experience: a North American cross‐sectional study</atitle><jtitle>Muscle & nerve</jtitle><addtitle>Muscle Nerve</addtitle><date>2019-04</date><risdate>2019</risdate><volume>59</volume><issue>4</issue><spage>457</spage><epage>464</epage><pages>457-464</pages><issn>0148-639X</issn><eissn>1097-4598</eissn><abstract>ABSTRACT
Introduction: Myotonic dystrophy (DM) is a chronic, multisystemic, neurological condition. Patients and caregivers are uniquely suited to identify what symptoms are most important and highlight the unmet needs that are most relevant to DM. Methods: We conducted a North American, cross‐sectional study of people with DM type‐1, congenital DM, and DM type‐2 and their family members. We sent patients and caregivers separate surveys to identify and quantitate the issues of greatest importance, examine the differences between groups, and identify the most important challenges experienced by this population. Results: 1,180 people with DM and 402 family members/caregivers responded to the surveys. They reported considerable physical and cognitive symptoms, extensive diagnostic delays, and varying clinical phenotypes on the basis of DM type. Discussion: Marked disease burden and numerous unmet needs exist in DM. These needs vary based on DM type and highlight the complex clinical phenotypes of these neurological disorders. Muscle Nerve 59:457–464, 2019</abstract><cop>United States</cop><pub>Wiley Subscription Services, Inc</pub><pmid>30677147</pmid><doi>10.1002/mus.26420</doi><tpages>8</tpages><oa>free_for_read</oa></addata></record> |
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| subjects | caregiver Caregivers Clinical Clinical s Cognitive ability Cross-sectional studies Diagnostic systems Dystrophy Muscles Myotonic dystrophy Neurological diseases neuromuscular disease patient report Patients Phenotypes Polls & surveys Signs and symptoms unmet needs |
| title | The myotonic dystrophy experience: a North American cross‐sectional study |
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