A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy
Abstract Objective FHL1‐related reducing body myopathy is an ultra‐rare, X‐linked dominant myopathy. In this cross‐sectional study, we characterize skeletal muscle ultrasound, muscle MRI, and cardiac MRI findings in FHL1‐related reducing body myopathy patients. Methods Seventeen patients (11 male, m...
| Main Authors: | , , , , , , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wiley
2023-08-01
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| Series: | Annals of Clinical and Translational Neurology |
| Online Access: | https://doi.org/10.1002/acn3.51834 |
| _version_ | 1797743570126372864 |
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| author | Payam Mohassel Pomi Yun Safoora Syeda Abhinandan Batra Andrew J. Bradley Sandra Donkervoort Soledad Monges Julie S. Cohen Doris G. Leung Francina Munell Carlos Ortez Angel Sánchez‐Montáñez Peter Karachunski John Brandsema Livija Medne Vinay Chaudhry Giorgio Tasca A. Reghan Foley Bjarne Udd Andrew E. Arai Glenn A. Walter Carsten G. Bönnemann |
| author_facet | Payam Mohassel Pomi Yun Safoora Syeda Abhinandan Batra Andrew J. Bradley Sandra Donkervoort Soledad Monges Julie S. Cohen Doris G. Leung Francina Munell Carlos Ortez Angel Sánchez‐Montáñez Peter Karachunski John Brandsema Livija Medne Vinay Chaudhry Giorgio Tasca A. Reghan Foley Bjarne Udd Andrew E. Arai Glenn A. Walter Carsten G. Bönnemann |
| author_sort | Payam Mohassel |
| collection | DOAJ |
| description | Abstract Objective FHL1‐related reducing body myopathy is an ultra‐rare, X‐linked dominant myopathy. In this cross‐sectional study, we characterize skeletal muscle ultrasound, muscle MRI, and cardiac MRI findings in FHL1‐related reducing body myopathy patients. Methods Seventeen patients (11 male, mean age 35.4, range 12–76 years) from nine independent families with FHL1‐related reducing body myopathy underwent clinical evaluation, muscle ultrasound (n = 11/17), and lower extremity muscle MRI (n = 14/17), including Dixon MRI (n = 6/17). Muscle ultrasound echogenicity was graded using a modified Heckmatt scale. T1 and STIR axial images of the lower extremity muscles were evaluated for pattern and distribution of abnormalities. Quantitative analysis of intramuscular fat fraction was performed using the Dixon MRI images. Cardiac studies included electrocardiogram (n = 15/17), echocardiogram (n = 17/17), and cardiac MRI (n = 6/17). Cardiac muscle function, T1 maps, T2‐weighted black blood images, and late gadolinium enhancement patterns were analyzed. Results Muscle ultrasound showed a distinct pattern of increased echointensity in skeletal muscles with a nonuniform, multifocal, and “geographical” distribution, selectively involving the deeper fascicles of muscles such as biceps and tibialis anterior. Lower extremity muscle MRI showed relative sparing of gluteus maximus, rectus femoris, gracilis, and lateral gastrocnemius muscles and an asymmetric and multifocal, “geographical” pattern of T1 hyperintensity within affected muscles. Cardiac studies revealed mild and nonspecific abnormalities on electrocardiogram and echocardiogram with unremarkable cardiac MRI studies. Interpretation Skeletal muscle ultrasound and muscle MRI reflect the multifocal aggregate formation in muscle in FHL1‐related reducing body myopathy and are practical and informative tools that can aid in diagnosis and monitoring of disease progression. |
| first_indexed | 2024-03-12T14:57:20Z |
| format | Article |
| id | doaj.art-35a339c466cb40e8a5e21cd005acc393 |
| institution | Directory Open Access Journal |
| issn | 2328-9503 |
| language | English |
| last_indexed | 2024-03-12T14:57:20Z |
| publishDate | 2023-08-01 |
| publisher | Wiley |
| record_format | Article |
| series | Annals of Clinical and Translational Neurology |
| spelling | doaj.art-35a339c466cb40e8a5e21cd005acc3932023-08-14T13:58:31ZengWileyAnnals of Clinical and Translational Neurology2328-95032023-08-011081442145510.1002/acn3.51834A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathyPayam Mohassel0Pomi Yun1Safoora Syeda2Abhinandan Batra3Andrew J. Bradley4Sandra Donkervoort5Soledad Monges6Julie S. Cohen7Doris G. Leung8Francina Munell9Carlos Ortez10Angel Sánchez‐Montáñez11Peter Karachunski12John Brandsema13Livija Medne14Vinay Chaudhry15Giorgio Tasca16A. Reghan Foley17Bjarne Udd18Andrew E. Arai19Glenn A. Walter20Carsten G. Bönnemann21Neurogenetics Branch National Institute of Neurological Disorders and Stroke Bethesda MD USANeurogenetics Branch National Institute of Neurological Disorders and Stroke Bethesda MD USANeurogenetics Branch National Institute of Neurological Disorders and Stroke Bethesda MD USADepartment of Physical Therapy University of Florida Gainesville FL USAAdvanced Cardiovascular Imaging Laboratory NHLBI, NIH Bethesda MD USANeurogenetics Branch National Institute of Neurological Disorders and Stroke Bethesda MD USAServicio de Neurología Hospital de Pediatría J.P. Garrahan Buenos Aires ArgentinaDepartment of Neurology Kennedy Krieger Institute, Johns Hopkins University School of Medicine Baltimore MD USADepartment of Neurology Kennedy Krieger Institute, Johns Hopkins University School of Medicine Baltimore MD USAPediatric Neurology Vall d'Hebron University Hospital Barcelona SpainDepartment of Pediatric Neurology, Neuromuscular Unit Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu Barcelona SpainPediatric Neuroradiology Hospital Universitari Vall d'Hebron, Vall d'Hebron, Autonomous University of Barcelona Barcelona SpainUniversity of Minnesota Medical School Minneapolis MN USADivision of Neurology Children's Hospital of Philadelphia Philadelphia PA USADivision of Neurology Children's Hospital of Philadelphia Philadelphia PA USADepartment of Neurology University of North Carolina Chapel Hill NC USAUnità Operativa Complessa di Neurologia Fondazione Policlinico Universitario A. Gemelli IRCCS Rome ItalyNeurogenetics Branch National Institute of Neurological Disorders and Stroke Bethesda MD USAFolkhalsan Research Center, Department of Medical Genetics University of Helsinki Helsinki FinlandAdvanced Cardiovascular Imaging Laboratory NHLBI, NIH Bethesda MD USADepartment of Physiology and Functional Genomics University of Florida Gainesville FL USANeurogenetics Branch National Institute of Neurological Disorders and Stroke Bethesda MD USAAbstract Objective FHL1‐related reducing body myopathy is an ultra‐rare, X‐linked dominant myopathy. In this cross‐sectional study, we characterize skeletal muscle ultrasound, muscle MRI, and cardiac MRI findings in FHL1‐related reducing body myopathy patients. Methods Seventeen patients (11 male, mean age 35.4, range 12–76 years) from nine independent families with FHL1‐related reducing body myopathy underwent clinical evaluation, muscle ultrasound (n = 11/17), and lower extremity muscle MRI (n = 14/17), including Dixon MRI (n = 6/17). Muscle ultrasound echogenicity was graded using a modified Heckmatt scale. T1 and STIR axial images of the lower extremity muscles were evaluated for pattern and distribution of abnormalities. Quantitative analysis of intramuscular fat fraction was performed using the Dixon MRI images. Cardiac studies included electrocardiogram (n = 15/17), echocardiogram (n = 17/17), and cardiac MRI (n = 6/17). Cardiac muscle function, T1 maps, T2‐weighted black blood images, and late gadolinium enhancement patterns were analyzed. Results Muscle ultrasound showed a distinct pattern of increased echointensity in skeletal muscles with a nonuniform, multifocal, and “geographical” distribution, selectively involving the deeper fascicles of muscles such as biceps and tibialis anterior. Lower extremity muscle MRI showed relative sparing of gluteus maximus, rectus femoris, gracilis, and lateral gastrocnemius muscles and an asymmetric and multifocal, “geographical” pattern of T1 hyperintensity within affected muscles. Cardiac studies revealed mild and nonspecific abnormalities on electrocardiogram and echocardiogram with unremarkable cardiac MRI studies. Interpretation Skeletal muscle ultrasound and muscle MRI reflect the multifocal aggregate formation in muscle in FHL1‐related reducing body myopathy and are practical and informative tools that can aid in diagnosis and monitoring of disease progression.https://doi.org/10.1002/acn3.51834 |
| spellingShingle | Payam Mohassel Pomi Yun Safoora Syeda Abhinandan Batra Andrew J. Bradley Sandra Donkervoort Soledad Monges Julie S. Cohen Doris G. Leung Francina Munell Carlos Ortez Angel Sánchez‐Montáñez Peter Karachunski John Brandsema Livija Medne Vinay Chaudhry Giorgio Tasca A. Reghan Foley Bjarne Udd Andrew E. Arai Glenn A. Walter Carsten G. Bönnemann A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy Annals of Clinical and Translational Neurology |
| title | A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy |
| title_full | A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy |
| title_fullStr | A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy |
| title_full_unstemmed | A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy |
| title_short | A comprehensive study of skeletal muscle imaging in FHL1‐related reducing body myopathy |
| title_sort | comprehensive study of skeletal muscle imaging in fhl1 related reducing body myopathy |
| url | https://doi.org/10.1002/acn3.51834 |
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