Muscle MRI is not sufficient to diagnose SARS-CoV-2 associated myositis

Background:Autoantibodies directed against cytosolic 5´-nucleotidase 1A (cN1A) have been identified in sporadic inclusion body myositis (sIBM) and other connective tissue diseases. Anti-cN1A antibodies may support the diagnostic process for sIBM as well as potentially provide clues for disease pathogenesis. Nevertheless, the utility of anti-cN1A autoantibody testing in clinical practice remains unclear and requires validation.Objectives:To investigate the association between anti-cN1A antibody status and clinical and MRI features in patients with sIBM.Methods:Data for patients fulfilling European Neuromuscular Centre (ENMC) 2011 criteria for sIBM were obtained from a natural history study database. Demographic, clinical, functional assessment, and muscle MRI data in patients with sIBM who had anti-cN1A autoantibody testing were collected and analysed. Comparisons between subgroups with anti-cN1A antibody status were performed with the Mann-Whitney or Fisher’s exact tests, as appropriate.Results:Forty-nine patients with sIBM had anti-cN1A autoantibody testing, of whom 17 (34.7%) were positive. Twelve patients had muscle MRI performed (seropositivity=5). Demographics, disease duration at antibody testing and overall disease pattern were closely matched in antibody positive and negative cohorts. Dysphagia was more common in the seropositive subgroup (77% vs 47%, p=0.070). Antibody positive patients were more severely affected with a trend to lower IBM functional rating scale (IBMFRS) scores (22.4±8.4 vs 26.7±6.4, p=0.09) with significantly worse ability to climb stairs (0.9±0.9, 1.7±1.1, p=0.02). On T1-weighted MRI more fatty infiltration was found in seropositive patients (Mercuri score: 3.0±0.8 vs 1.7±0.7, p=0.03). Short tau inversion recovery (STIR) hyperintensity was more conspicuous in seropositive patients (STIR extent score: 2.4±0.6 vs 1.4±0.7, p=0.04).Conclusion:There was a trend for more dysphagia and severity of dysphagia in seropositive patients. Differences in upper limb involvement were not seen according to IBMFRS and Medical Research Council (MRC) strength grades. Seropositive patients were more severely affected at the lower limb level, in terms of muscle weakness, physical function, MRI fatty infiltration and muscle inflammation. These results suggest positive antibody status is associated with a worse phenotype. These results have potential implications in clinical trials: whether antibody status influences treatment response should be assessed.Disclosure of Interests:Revadee Dejthevaporn: None declared, Sachit Shah: None declared, Stephen Wastling: None declared, John Thornton: None declared, Tarek Yousry: None declared, Jasper M Morrow: None declared, Pedro M Machado Consultant of: PMM: Abbvie, Celgene, Janssen, Lilly, MSD, Novartis, Pfizer, Roche and UCB, Speakers bureau: PMM: Abbvie, BMS, Lilly, MSD, Novartis, Pfizer, Roche and UCB

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Thigh and Leg Muscle MRI Findings in GNE Myopathy

Journal of Neuromuscular Diseases ◽

10.3233/jnd-210629 ◽

2021 ◽

pp. 1-8

Author(s):

Farzad Fatehi ◽

Soroor Advani ◽

Ali Asghar Okhovat ◽

Bentolhoda Ziaadini ◽

Hosein Shamshiri ◽

...

Keyword(s):

Tibialis Anterior ◽

Vastus Lateralis ◽

Fatty Infiltration ◽

Muscular Dystrophies ◽

Tibialis Posterior ◽

Muscle Mri ◽

Muscle Involvement ◽

Fat Infiltration ◽

Gne Myopathy ◽

Adductor Magnus

Background: Muscle MRI protocols have been developed to assess muscle involvement in a wide variety of muscular dystrophies. Different muscular dystrophies can involve muscle groups in characteristic patterns. These patterns can be identified in muscle MRI in the form of fatty infiltration. Objective: This study was conducted to add the existing knowledge of muscle MRI in GNE myopathy and evaluate the correlation of muscular involvement with different gene mutations. Methods: The MRI scans of the 18 GNE patients were analyzed retrospectively. Cluster analysis was done for grouping the muscles and patients. Results: The four muscles with the highest fat infiltration were adductor magnus, tibialis anterior, semitendinosus, and semimembranosus. Furthermore, three clusters of muscle involvement were found, including cluster 1, typical muscle involvement indicating muscles with the highest infiltration: extensor digitorum longus, gracilis, biceps femoris, soleus, gastrocnemius medial, adductor longus, tibialis anterior, adductor magnus, semimembranosus, semitendinosus; cluster 2, less typical muscle involvement indicating muscles with intermediate fat infiltration, peroneus longus, gastrocnemius lateral, and minimal fat infiltration in most of the patients, i.e., tibialis posterior; and cluster 3, atypical muscle involvement with low-fat infiltration: rectus femoris, sartorius, vastus intermedius, vastus medialis, and vastus lateralis. Conclusions: This study found three clusters of muscle involvement and three groups of patients among GNE patients. Hamstring muscles and the anterior compartment of the lower leg were the muscles with the highest fat infiltration. Moreover, a weak genotype-muscle MRI association was found in which tibialis posterior was more involved in patients with the most frequent mutation, i.e., C.2228T > C (p.M743T) mutation; however, this finding may be related to longer disease duration.

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P75 Muscle MRI findings in LGMD2L

Neuromuscular Disorders ◽

10.1016/s0960-8966(11)70094-3 ◽

2011 ◽

Vol 21 ◽

pp. S28

Author(s):

A. Sarkozy ◽

P. Hicks ◽

J. Miller ◽

M.C. Walter ◽

P. Reilich ◽

...

Keyword(s):

Mri Findings ◽

Muscle Mri

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Muscle MRI in severe Guillain–Barré syndrome with motor nerve inexcitability

Journal of Neurology ◽

10.1007/s00415-013-6845-y ◽

2013 ◽

Vol 260 (6) ◽

pp. 1624-1630 ◽

Cited By ~ 6

Author(s):

María J. Sedano ◽

Ana Canga ◽

Carmen Pablos ◽

José M. Polo ◽

José Berciano

Keyword(s):

Motor Nerve ◽

Guillain Barre Syndrome ◽

Muscle Mri ◽

Guillain Barré Syndrome ◽

Guillain Barré

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Multi-muscle MRI Texture Analysis for Therapy Evaluation in Duchenne Muscular Dystrophy

Computer Information Systems and Industrial Management - Lecture Notes in Computer Science ◽

10.1007/978-3-030-28957-7_2 ◽

2019 ◽

pp. 12-24

Author(s):

Dorota Duda

Keyword(s):

Duchenne Muscular Dystrophy ◽

Muscular Dystrophy ◽

Texture Analysis ◽

Muscle Mri ◽

Therapy Evaluation

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Longitudinal Motor Functional Outcomes and Magnetic Resonance Imaging Patterns of Muscle Involvement in Upper Limbs in Duchenne Muscular Dystrophy

Medicina ◽

10.3390/medicina57111267 ◽

2021 ◽

Vol 57 (11) ◽

pp. 1267

Author(s):

Claudia Brogna ◽

Lara Cristiano ◽

Tommaso Verdolotti ◽

Giulia Norcia ◽

Luana Ficociello ◽

...

Keyword(s):

Magnetic Resonance Imaging ◽

Duchenne Muscular Dystrophy ◽

Magnetic Resonance ◽

Muscular Dystrophy ◽

Resonance Imaging ◽

Muscle Mri ◽

Functional Changes ◽

One Year ◽

Age Range

Background and Objectives: The aim of this study was to evaluate longitudinal changes using both upper limb muscle Magnetic Resonance Imaging (MRI) at shoulder, arm and forearm levels and Performance of upper limb (PUL) in ambulant and non-ambulant Duchenne Muscular Dystrophy (DMD) patients. We also wished to define whether baseline muscle MRI could help to predict functional changes after one year. Materials and Methods: Twenty-seven patients had both baseline and 12month muscle MRI and PUL assessments one year later. Results: Ten were ambulant (age range 5–16 years), and 17 non ambulant (age range 10–30 years). Increased abnormalities equal or more than 1.5 point on muscle MRI at follow up were found on all domains: at shoulder level 12/27 patients (44%), at arm level 4/27 (15%) and at forearm level 6/27 (22%). Lower follow up PUL score were found in 8/27 patients (30%) at shoulder level, in 9/27 patients (33%) at mid-level whereas no functional changes were found at distal level. There was no constant association between baseline MRI scores and follow up PUL scores at arm and forearm levels but at shoulder level patients with moderate impairment on the baseline MRI scores between 16 and 34 had the highest risk of decreased function on PUL over a year. Conclusions: Our results confirmed that the integrated use of functional scales and imaging can help to monitor functional and MRI changes over time.

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Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies

Frontiers in Neurology ◽

10.3389/fneur.2021.664618 ◽

2021 ◽

Vol 12 ◽

Author(s):

Eleonora Mauri ◽

Daniela Piga ◽

Alessandra Govoni ◽

Roberta Brusa ◽

Serena Pagliarani ◽

...

Keyword(s):

Ryanodine Receptor ◽

Brain Mri ◽

Fetal Brain ◽

Congenital Myopathy ◽

Receptor Type ◽

Congenital Myopathies ◽

Muscle Mri ◽

Next Generation Sequencing Ngs ◽

Generation Sequencing

Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a cohort of patients affected with Ryanodine receptor type 1-related congenital myopathy (RYR1-RCM), focusing on four patients who showed a severe congenital phenotype and underwent a comprehensive characterization at few months of life. To date there are few reports on precocious instrumental assessment. In two out of the four patients, a muscle biopsy was performed in the first days of life (day 5 and 37, respectively) and electron microscopy was carried out in two patients detecting typical features of congenital myopathy. Two patients underwent brain MRI in the first months of life (15 days and 2 months, respectively), one also a fetal brain MRI. In three children electromyography was performed in the first week of life and neurogenic signs were excluded. Muscle MRI obtained within the first years of life showed a typical pattern of RYR1-CM. The diagnosis was confirmed through genetic analysis in three out of four cases using Next Generation Sequencing (NGS) panels. The development of a correct and rapid diagnosis is a priority and may lead to prompt medical management and helps optimize inclusion in future clinical trials.

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