Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy
Introduction/Aims The dystrophinopathies primarily affect males; however, female carriers of pathogenic dystrophin variants can develop skeletal muscle symptoms. This study aimed to evaluate muscle involvement and symptoms in females with dystrophinopathy using quantitative magnetic resonance imagin...
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| Veröffentlicht in: | Muscle & nerve 2024-11, Vol.70 (5), p.988-999 |
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| creator | Jenkins, Breana M. Dixon, Lathan D. Kokesh, Kevin J. Zingariello, Carla D. Vandenborne, Krista Walter, Glenn A. Barnard, Alison M. |
| description | Introduction/Aims
The dystrophinopathies primarily affect males; however, female carriers of pathogenic dystrophin variants can develop skeletal muscle symptoms. This study aimed to evaluate muscle involvement and symptoms in females with dystrophinopathy using quantitative magnetic resonance imaging (MRI), functional assessments, and patient‐reported outcomes.
Methods
Controls and females with dystrophinopathy with muscle symptoms of pain, weakness, fatigue, or excessive tightness were enrolled in this cross‐sectional study. Participants underwent lower extremity MRI to quantify muscle inflammation, replacement by fat, and disease asymmetry. Cardiac MRI, functional ability, muscle symptoms, and serum creatine kinase levels were also evaluated.
Results
Six pediatric females with dystrophinopathy (mean age: 11.7 years), 11 adult females with dystrophinopathy (mean age: 41.3 years), and seven controls enrolled. The mean fat fraction was increased in females with dystrophinopathy compared to controls in the soleus (0.11 vs. 0.03, p = .0272) and vastus lateralis (0.16 vs. 0.03, p = .004). Magnetic resonance spectroscopy water T2, indicative of muscle inflammation, was elevated in the soleus and/or vastus lateralis in 11 of 17 individuals. North Star Ambulatory Assessment score was lower in the dystrophinopathy group compared to controls (29 vs. 34 points, p = .0428). From cardiac MRI, left ventricle T1 relaxation times were elevated in females with dystrophinopathy compared to controls (1311 ± 55 vs. 1263 ± 25 ms, p |
| doi_str_mv | 10.1002/mus.28235 |
| format | Article |
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The dystrophinopathies primarily affect males; however, female carriers of pathogenic dystrophin variants can develop skeletal muscle symptoms. This study aimed to evaluate muscle involvement and symptoms in females with dystrophinopathy using quantitative magnetic resonance imaging (MRI), functional assessments, and patient‐reported outcomes.
Methods
Controls and females with dystrophinopathy with muscle symptoms of pain, weakness, fatigue, or excessive tightness were enrolled in this cross‐sectional study. Participants underwent lower extremity MRI to quantify muscle inflammation, replacement by fat, and disease asymmetry. Cardiac MRI, functional ability, muscle symptoms, and serum creatine kinase levels were also evaluated.
Results
Six pediatric females with dystrophinopathy (mean age: 11.7 years), 11 adult females with dystrophinopathy (mean age: 41.3 years), and seven controls enrolled. The mean fat fraction was increased in females with dystrophinopathy compared to controls in the soleus (0.11 vs. 0.03, p = .0272) and vastus lateralis (0.16 vs. 0.03, p = .004). Magnetic resonance spectroscopy water T2, indicative of muscle inflammation, was elevated in the soleus and/or vastus lateralis in 11 of 17 individuals. North Star Ambulatory Assessment score was lower in the dystrophinopathy group compared to controls (29 vs. 34 points, p = .0428). From cardiac MRI, left ventricle T1 relaxation times were elevated in females with dystrophinopathy compared to controls (1311 ± 55 vs. 1263 ± 25 ms, p < .05), but ejection fraction and circumferential strain did not differ.
Discussion
Symptomatic females with dystrophinopathy quantitatively demonstrate muscle replacement by fat and inflammation, along with impairments in functional ability and cardiac function. Additional research is needed to evaluate how symptoms and muscle involvement change longitudinally.</description><identifier>ISSN: 0148-639X</identifier><identifier>ISSN: 1097-4598</identifier><identifier>EISSN: 1097-4598</identifier><identifier>DOI: 10.1002/mus.28235</identifier><identifier>PMID: 39221574</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Adolescent ; Adult ; Cardiac muscle ; Child ; Coronary artery disease ; Creatine ; Creatine kinase ; Creatine Kinase - blood ; Cross-Sectional Studies ; Duchenne muscular dystrophy ; Dystrophin ; Dystrophin - genetics ; fat fraction ; Female ; Females ; Functional magnetic resonance imaging ; Heart diseases ; Hemispheric laterality ; Humans ; Inflammation ; Kinases ; Magnetic Resonance Imaging ; Magnetic resonance spectroscopy ; Middle Aged ; Muscle contraction ; Muscle, Skeletal - diagnostic imaging ; Muscle, Skeletal - pathology ; Muscles ; Muscular fatigue ; Musculoskeletal system ; Pediatrics ; Signs and symptoms ; Skeletal muscle ; Tightness ; x‐inactivation ; Young Adult</subject><ispartof>Muscle & nerve, 2024-11, Vol.70 (5), p.988-999</ispartof><rights>2024 Wiley Periodicals LLC.</rights><lds50>peer_reviewed</lds50><woscitedreferencessubscribed>false</woscitedreferencessubscribed><cites>FETCH-LOGICAL-c2435-18dbc2a758df4f24f59df4e13cda17d1a407547c6760df3de6621c67d07068c43</cites><orcidid>0000-0001-9884-2190 ; 0000-0001-7715-0865</orcidid></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.28235$$EPDF$$P50$$Gwiley$$H</linktopdf><linktohtml>$$Uhttps://onlinelibrary.wiley.com/doi/full/10.1002%2Fmus.28235$$EHTML$$P50$$Gwiley$$H</linktohtml><link.rule.ids>314,780,784,1417,27924,27925,45574,45575</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/39221574$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Jenkins, Breana M.</creatorcontrib><creatorcontrib>Dixon, Lathan D.</creatorcontrib><creatorcontrib>Kokesh, Kevin J.</creatorcontrib><creatorcontrib>Zingariello, Carla D.</creatorcontrib><creatorcontrib>Vandenborne, Krista</creatorcontrib><creatorcontrib>Walter, Glenn A.</creatorcontrib><creatorcontrib>Barnard, Alison M.</creatorcontrib><title>Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy</title><title>Muscle & nerve</title><addtitle>Muscle Nerve</addtitle><description>Introduction/Aims
The dystrophinopathies primarily affect males; however, female carriers of pathogenic dystrophin variants can develop skeletal muscle symptoms. This study aimed to evaluate muscle involvement and symptoms in females with dystrophinopathy using quantitative magnetic resonance imaging (MRI), functional assessments, and patient‐reported outcomes.
Methods
Controls and females with dystrophinopathy with muscle symptoms of pain, weakness, fatigue, or excessive tightness were enrolled in this cross‐sectional study. Participants underwent lower extremity MRI to quantify muscle inflammation, replacement by fat, and disease asymmetry. Cardiac MRI, functional ability, muscle symptoms, and serum creatine kinase levels were also evaluated.
Results
Six pediatric females with dystrophinopathy (mean age: 11.7 years), 11 adult females with dystrophinopathy (mean age: 41.3 years), and seven controls enrolled. The mean fat fraction was increased in females with dystrophinopathy compared to controls in the soleus (0.11 vs. 0.03, p = .0272) and vastus lateralis (0.16 vs. 0.03, p = .004). Magnetic resonance spectroscopy water T2, indicative of muscle inflammation, was elevated in the soleus and/or vastus lateralis in 11 of 17 individuals. North Star Ambulatory Assessment score was lower in the dystrophinopathy group compared to controls (29 vs. 34 points, p = .0428). From cardiac MRI, left ventricle T1 relaxation times were elevated in females with dystrophinopathy compared to controls (1311 ± 55 vs. 1263 ± 25 ms, p < .05), but ejection fraction and circumferential strain did not differ.
Discussion
Symptomatic females with dystrophinopathy quantitatively demonstrate muscle replacement by fat and inflammation, along with impairments in functional ability and cardiac function. Additional research is needed to evaluate how symptoms and muscle involvement change longitudinally.</description><subject>Adolescent</subject><subject>Adult</subject><subject>Cardiac muscle</subject><subject>Child</subject><subject>Coronary artery disease</subject><subject>Creatine</subject><subject>Creatine kinase</subject><subject>Creatine Kinase - blood</subject><subject>Cross-Sectional Studies</subject><subject>Duchenne muscular dystrophy</subject><subject>Dystrophin</subject><subject>Dystrophin - genetics</subject><subject>fat fraction</subject><subject>Female</subject><subject>Females</subject><subject>Functional magnetic resonance imaging</subject><subject>Heart diseases</subject><subject>Hemispheric laterality</subject><subject>Humans</subject><subject>Inflammation</subject><subject>Kinases</subject><subject>Magnetic Resonance Imaging</subject><subject>Magnetic resonance spectroscopy</subject><subject>Middle Aged</subject><subject>Muscle contraction</subject><subject>Muscle, Skeletal - diagnostic imaging</subject><subject>Muscle, Skeletal - pathology</subject><subject>Muscles</subject><subject>Muscular fatigue</subject><subject>Musculoskeletal system</subject><subject>Pediatrics</subject><subject>Signs and symptoms</subject><subject>Skeletal muscle</subject><subject>Tightness</subject><subject>x‐inactivation</subject><subject>Young Adult</subject><issn>0148-639X</issn><issn>1097-4598</issn><issn>1097-4598</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2024</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNp1kMtKxDAUQIMoOo4u_AEJuNFFndwkbdKlDD4GfICj4C7EJmWqfdmkDv17o1UXgqt7LxwOl4PQAZBTIITOqt6dUklZvIEmQFIR8TiVm2hCgMsoYenTDtp17oUQAjIR22iHpZRCLPgE3S5fbWm9LnGQZKXFbqha31QO69rgt17XvvDaF-8W39wvcFHj3Fa6tA6vC7_CZnC-a9pVUTet9qthD23lunR2_3tO0ePF-cP8Krq-u1zMz66jjHIWRyDNc0a1iKXJeU55HqdhscAyo0EY0JyImIssEQkxOTM2SSiEyxBBEplxNkXHo7ftmrfeOq-qwmW2LHVtm94pRtJUxjJJZUCP_qAvTd_V4TvFADgAhBiBOhmprGuc62yu2q6odDcoIOozsgp91FfkwB5-G_vnyppf8qdqAGYjsC5KO_xvUjePy1H5Ad4JhiY</recordid><startdate>202411</startdate><enddate>202411</enddate><creator>Jenkins, Breana M.</creator><creator>Dixon, Lathan D.</creator><creator>Kokesh, Kevin J.</creator><creator>Zingariello, Carla D.</creator><creator>Vandenborne, Krista</creator><creator>Walter, Glenn A.</creator><creator>Barnard, Alison M.</creator><general>John Wiley & Sons, Inc</general><general>Wiley Subscription Services, Inc</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>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><orcidid>https://orcid.org/0000-0001-9884-2190</orcidid><orcidid>https://orcid.org/0000-0001-7715-0865</orcidid></search><sort><creationdate>202411</creationdate><title>Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy</title><author>Jenkins, Breana M. ; Dixon, Lathan D. ; Kokesh, Kevin J. ; Zingariello, Carla D. ; Vandenborne, Krista ; Walter, Glenn A. ; Barnard, Alison M.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c2435-18dbc2a758df4f24f59df4e13cda17d1a407547c6760df3de6621c67d07068c43</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2024</creationdate><topic>Adolescent</topic><topic>Adult</topic><topic>Cardiac muscle</topic><topic>Child</topic><topic>Coronary artery disease</topic><topic>Creatine</topic><topic>Creatine kinase</topic><topic>Creatine Kinase - blood</topic><topic>Cross-Sectional Studies</topic><topic>Duchenne muscular dystrophy</topic><topic>Dystrophin</topic><topic>Dystrophin - genetics</topic><topic>fat fraction</topic><topic>Female</topic><topic>Females</topic><topic>Functional magnetic resonance imaging</topic><topic>Heart diseases</topic><topic>Hemispheric laterality</topic><topic>Humans</topic><topic>Inflammation</topic><topic>Kinases</topic><topic>Magnetic Resonance Imaging</topic><topic>Magnetic resonance spectroscopy</topic><topic>Middle Aged</topic><topic>Muscle contraction</topic><topic>Muscle, Skeletal - diagnostic imaging</topic><topic>Muscle, Skeletal - pathology</topic><topic>Muscles</topic><topic>Muscular fatigue</topic><topic>Musculoskeletal system</topic><topic>Pediatrics</topic><topic>Signs and symptoms</topic><topic>Skeletal muscle</topic><topic>Tightness</topic><topic>x‐inactivation</topic><topic>Young Adult</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Jenkins, Breana M.</creatorcontrib><creatorcontrib>Dixon, Lathan D.</creatorcontrib><creatorcontrib>Kokesh, Kevin J.</creatorcontrib><creatorcontrib>Zingariello, Carla D.</creatorcontrib><creatorcontrib>Vandenborne, Krista</creatorcontrib><creatorcontrib>Walter, Glenn A.</creatorcontrib><creatorcontrib>Barnard, Alison M.</creatorcontrib><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</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><jtitle>Muscle & nerve</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Jenkins, Breana M.</au><au>Dixon, Lathan D.</au><au>Kokesh, Kevin J.</au><au>Zingariello, Carla D.</au><au>Vandenborne, Krista</au><au>Walter, Glenn A.</au><au>Barnard, Alison M.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy</atitle><jtitle>Muscle & nerve</jtitle><addtitle>Muscle Nerve</addtitle><date>2024-11</date><risdate>2024</risdate><volume>70</volume><issue>5</issue><spage>988</spage><epage>999</epage><pages>988-999</pages><issn>0148-639X</issn><issn>1097-4598</issn><eissn>1097-4598</eissn><abstract>Introduction/Aims
The dystrophinopathies primarily affect males; however, female carriers of pathogenic dystrophin variants can develop skeletal muscle symptoms. This study aimed to evaluate muscle involvement and symptoms in females with dystrophinopathy using quantitative magnetic resonance imaging (MRI), functional assessments, and patient‐reported outcomes.
Methods
Controls and females with dystrophinopathy with muscle symptoms of pain, weakness, fatigue, or excessive tightness were enrolled in this cross‐sectional study. Participants underwent lower extremity MRI to quantify muscle inflammation, replacement by fat, and disease asymmetry. Cardiac MRI, functional ability, muscle symptoms, and serum creatine kinase levels were also evaluated.
Results
Six pediatric females with dystrophinopathy (mean age: 11.7 years), 11 adult females with dystrophinopathy (mean age: 41.3 years), and seven controls enrolled. The mean fat fraction was increased in females with dystrophinopathy compared to controls in the soleus (0.11 vs. 0.03, p = .0272) and vastus lateralis (0.16 vs. 0.03, p = .004). Magnetic resonance spectroscopy water T2, indicative of muscle inflammation, was elevated in the soleus and/or vastus lateralis in 11 of 17 individuals. North Star Ambulatory Assessment score was lower in the dystrophinopathy group compared to controls (29 vs. 34 points, p = .0428). From cardiac MRI, left ventricle T1 relaxation times were elevated in females with dystrophinopathy compared to controls (1311 ± 55 vs. 1263 ± 25 ms, p < .05), but ejection fraction and circumferential strain did not differ.
Discussion
Symptomatic females with dystrophinopathy quantitatively demonstrate muscle replacement by fat and inflammation, along with impairments in functional ability and cardiac function. Additional research is needed to evaluate how symptoms and muscle involvement change longitudinally.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>39221574</pmid><doi>10.1002/mus.28235</doi><tpages>12</tpages><orcidid>https://orcid.org/0000-0001-9884-2190</orcidid><orcidid>https://orcid.org/0000-0001-7715-0865</orcidid></addata></record> |
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| subjects | Adolescent Adult Cardiac muscle Child Coronary artery disease Creatine Creatine kinase Creatine Kinase - blood Cross-Sectional Studies Duchenne muscular dystrophy Dystrophin Dystrophin - genetics fat fraction Female Females Functional magnetic resonance imaging Heart diseases Hemispheric laterality Humans Inflammation Kinases Magnetic Resonance Imaging Magnetic resonance spectroscopy Middle Aged Muscle contraction Muscle, Skeletal - diagnostic imaging Muscle, Skeletal - pathology Muscles Muscular fatigue Musculoskeletal system Pediatrics Signs and symptoms Skeletal muscle Tightness x‐inactivation Young Adult |
| title | Skeletal muscle symptoms and quantitative MRI in females with dystrophinopathy |
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