The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies.

Frontiers in Neurology
Enrico BugiardiniTarek A Yousry

Abstract

Objective: Distal myopathies are a diagnostically challenging group of diseases. We wanted to understand the value of MRI in the current clinical setting and explore the potential for optimizing its clinical application. Methods: We retrospectively audited the diagnostic workup in a distal myopathy patient cohort, reassessing the diagnosis, whilst documenting the usage of MRI. We established a literature based distal myopathies MRI pattern template and assessed its diagnostic utility in terms of sensitivity, specificity, and potential impact on the diagnostic workup. Results: Fifty-five patients were included; in 38 with a comprehensive set of data the diagnostic work-up was audited. The median time from symptoms onset to diagnosis was 12.1 years. The initial genetic diagnostic rate was 39%; 18% were misdiagnosed as neuropathies and 13% as inclusion body myositis (IBM). Based on 21 publications we established a MRI pattern template. Its overall sensitivity (50%) and specificity (32%) were low. However in some diseases (e.g., MYOT-related myopathy, TTN-HMERF) MRI correctly identified the causative gene. The number of genes suggested by MRI pattern analysis was smaller compared to clinical work up (median 1 vs. 9, p < 0.0001) but...Continue Reading

References

Jun 14, 2002·Neuromuscular Disorders : NMD·F L MastagliaN G Laing
Apr 28, 2004·Neurology·Duygu Selcen, Andrew G Engel
Apr 6, 2006·Brain : a Journal of Neurology·Dirk FischerNorma B Romero
May 26, 2007·Brain : a Journal of Neurology·Carina Wallgren-PetterssonBjarne Udd
Sep 4, 2008·Neurology·D FischerM Olivé
Jul 11, 2009·European Neurology·Alisdair McNeillPatrick F Chinnery
Feb 23, 2010·Neuromuscular Disorders : NMD·Peter ReilichHanns Lochmuller
Mar 13, 2010·Annals of Neurology·Eugenio MercuriFrancesco Muntoni
Apr 28, 2010·European Radiology·Mike P WattjesDirk Fischer
Jun 18, 2010·Brain : a Journal of Neurology·Sebahattin CirakThomas Voit
Feb 4, 2011·Rheumatology·Fieke M CoxUmesh A Badrising
Jun 17, 2011·Neuromuscular Disorders : NMD·Montse OlivéLev G Goldfarb
Jun 21, 2011·Neuromuscular Disorders : NMD·Johanna PalmioBjarne Udd
Jul 5, 2011·Neuromuscular Disorders : NMD·Vilma-Lotta LehtokariCarina Wallgren-Pettersson
Dec 27, 2011·Neuromuscular Disorders : NMD·Bjarne Udd
Jan 11, 2012·Journal of Neurology·Giorgio TascaAldobrando Broccolini
May 12, 2012·Brain : a Journal of Neurology·Gerald PfefferPatrick F Chinnery
Apr 23, 2013·Muscle & Nerve·Frank HanischStephan Zierz
Aug 27, 2014·Annals of Neurology·Tobias J MüllerStephan Zierz
Sep 2, 2014·Neuromuscular Disorders : NMD·Leroy Ten DamMarianne de Visser
Mar 27, 2015·Muscle & Nerve·Giorgio TascaMassimiliano Mirabella

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Citations

Sep 2, 2018·Muscle & Nerve·Margherita Milone, Teerin Liewluck
Jan 9, 2020·The Journal of Clinical Endocrinology and Metabolism·Luciana Martel-DuguechElena Valassi
Apr 29, 2020·Neuropathology and Applied Neurobiology·M CerinoS Attarian
Jul 15, 2020·International Journal of Rheumatic Diseases·Anu BalakrishnanLatika Gupta
Apr 23, 2020·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·G Fernández-EulateA López de Munain
Jan 31, 2020·Frontiers in Neurology·Stefan NicolauElie Naddaf
Oct 28, 2019·Orphanet Journal of Rare Diseases·Wei ZhangYun Yuan
Jan 23, 2019·Journal of Neurology·Johanna PalmioBjarne Udd
Nov 16, 2019·Neuromuscular Disorders : NMD·Jodi Warman ChardonUNKNOWN MYO-MRI Working Group
Jun 17, 2021·Muscle & Nerve·Stefan NicolauTeerin Liewluck
Nov 22, 2020·Neurology·Chia-Ying LiuNuria Carrillo

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Methods Mentioned

BETA
biopsy
biopsies

Software Mentioned

MRI Analysis

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