ArticleEuropean radiology2018
Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.
Article in European radiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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15 citing papers in PubMed, 40 citations in OpenAlex.
- HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model.Brain : a journal of neurology · 2025Article
- Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.Brain : a journal of neurology · 2024Article
- Miyoshi myopathy associated with spine rigidity and multiple contractures: a case report.BMC musculoskeletal disorders · 2024Article
- Whole-body muscle magnetic resonance imaging in inflammatory myopathy with mitochondrial pathology.Frontiers in neurology · 2024Article
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- SELENON-Related Myopathy Across the Life Span, a Cross-Sectional Study for Preparing Trial Readiness.Journal of neuromuscular diseases · 2023Observational
- Muscle MRI characteristic pattern for late-onset TK2 deficiency diagnosis.Journal of neurology · 2022Article
- Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.Journal of neurology · 2022Article
- MR imaging of inherited myopathies: a review and proposal of imaging algorithms.European radiology · 2021Review
- Ryanodine Receptor 1-Related Myopathies: Quantification of Intramuscular Fatty Infiltration from T1-Weighted MRI.Journal of neuromuscular diseases · 2021Article
- Spine Medical Image Segmentation Based on Deep Learning.Journal of healthcare engineering · 2021Article
- Update on Congenital Myopathies in Adulthood.International journal of molecular sciences · 2020Review
- Advancements in magnetic resonance imaging-based biomarkers for muscular dystrophy.Muscle & nerve · 2019Review
- MRI of trunk muscles and motor and respiratory function in patients with myotonic dystrophy type 1.BMC neurology · 2019Article
- Late-onset thymidine kinase 2 deficiency: a review of 18 cases.Orphanet journal of rare diseases · 2019Article
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Authors and funding
16 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesInherited myopathies are major causes of muscle atrophy and are often characterized by rigid spine syndrome, a clinical feature designating patients with early spinal contractures. We aim to present a decision algorithm based on muscular whole body magnetic resonance imaging (mWB-MRI) as a unique tool to orientate the diagnosis of each inherited myopathy long before the genetically confirmed diagnosis.
methodsThis multicentre retrospective study enrolled 79 patients from referral centres in France, Brazil and Chile. The patients underwent 1.5-T or 3-T mWB-MRI. The protocol comprised STIR and T1 sequences in axial and coronal planes, from head to toe. All images were analyzed manually by multiple raters. Fatty muscle replacement was evaluated on mWB-MRI using both the Mercuri scale and statistical comparison based on the percentage of affected muscle.
resultsBetween February 2005 and December 2015, 76 patients with genetically confirmed inherited myopathy were included. They were affected by Pompe disease or harbored mutations in RYR1, Collagen VI, LMNA, SEPN1, LAMA2 and MYH7 genes. Each myopathy had a specific pattern of affected muscles recognizable on mWB-MRI. This allowed us to create a novel decision algorithm for patients with rigid spine syndrome by segregating these signs. This algorithm was validated by five external evaluators on a cohort of seven patients with a diagnostic accuracy of 94.3% compared with the genetic diagnosis.
conclusionWe provide a novel decision algorithm based on muscle fat replacement graded on mWB-MRI that allows diagnosis and differentiation of inherited myopathies presenting with spinal rigidity. KEY POINTS: • Inherited myopathies are rare, diagnosis is challenging and genetic tests require specialized centres and often take years. • Inherited myopathies are often characterized by spinal rigidity. • Whole body magnetic resonance imaging is a unique tool to orientate the diagnosis of each inherited myopathy presenting with spinal rigidity. • Each inherited myopathy in this study has a specific pattern of affected muscles that orientate diagnosis. • A novel MRI-based algorithm, usable by every radiologist, can help the early diagnosis of these myopathies.
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