ArticleNeuromuscular disorders : NMD2013
Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
Article in Neuromuscular disorders : NMD, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers, 2 of them syntheses that pooled it.
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Who cites it
32 citing papers in PubMed, 2 syntheses or guidelines pooled it, 75 citations in OpenAlex.
- [Expert recommendations for magnetic resonance imaging of muscle disorders].Radiologie (Heidelberg, Germany) · 2024Guideline
- Magnetic resonance imaging patterns of muscle involvement in genetic muscle diseases: a systematic review.Journal of neurology · 2017Pooled it
- Thigh muscle segmentation of chemical shift encoding-based water-fat magnetic resonance images: The reference database MyoSegmenTUM.PloS one · 2018Trial
- Article
- The Diverse Neuromuscular Spectrum of VPS13A Disease.Annals of clinical and translational neurology · 2026Article
- Magnetic resonance imaging for adult idiopathic inflammatory myopathies: A scoping review of protocols, grading systems and applications.Seminars in arthritis and rheumatism · 2025Article
- Clinicopathological and imaging differences between pediatric and adult patients with anti-hydroxy-3-methyl-glutaryl-coenzyme A reductase necrotizing myopathy.Clinical rheumatology · 2025Review
- Article
- Clinical and genetic characteristics of myotonia congenita in Chinese population.Channels (Austin, Tex.) · 2024Article
- [Expert recommendations for magnetic resonance imaging of muscle disorders].Der Nervenarzt · 2024Review
- Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita.European journal of neurology · 2024Article
- Treatment of refractory immune-mediated necrotizing myopathy with efgartigimod.Frontiers in immunology · 2024Observational
- Whole-body muscle magnetic resonance imaging in inflammatory myopathy with mitochondrial pathology.Frontiers in neurology · 2024Article
- Usefulness and Clinical Impact of Whole-Body MRI in Detecting Autoimmune Neuromuscular Disorders.Brain sciences · 2023Review
- Muscle magnetic resonance imaging involvement patterns in nemaline myopathies.Annals of clinical and translational neurology · 2023Article
- Muscle fat replacement and contractility in patients with skeletal muscle sodium channel disorders.Scientific reports · 2023Article
- Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report.BMC neurology · 2022Article
- MR imaging findings of musculoskeletal involvement in microscopic polyangiitis: a comparison with inflammatory myopathy.La Radiologia medica · 2021Article
- Quantitative Muscle MRI in Patients with Neuromuscular Diseases-Association of Muscle Proton Density Fat Fraction with Semi-Quantitative Grading of Fatty Infiltration and Muscle Strength at the Thigh Region.Diagnostics (Basel, Switzerland) · 2021Article
- The value of qualitative muscle MRI in the diagnostic procedures of myopathies: a biopsy-controlled study in 191 patients.Therapeutic advances in neurological disorders · 2021Article
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Authors and funding
9 authors at 3 institutions in 2 countries.
Funding
Abstract
We assessed the presence, frequency and pattern of MRI abnormalities in non-dystrophic myotonia patients. We reviewed T1-weighted and STIR (short-tau-inversion-recovery) 3T MRI sequences of lower limb muscles at thigh and calf level in 21 patients with genetically confirmed non-dystrophic myotonia: 11 with CLCN1 mutations and 10 with SCN4A mutations, and 19 healthy volunteers. The MRI examinations of all patients showed hyperintensity within muscles on either T1-weighted or STIR images. Mild extensive or marked T1-weighted changes were noted in 10/21 patients and no volunteers. Muscles in the thigh were equally likely to be affected but in the calf there was sparing of tibialis posterior. Oedema was common in calf musculature especially in the medial gastrocnemius with STIR hyperintensity observed in 18/21 patients. In 10/11 CLCN1 patients this included a previously unreported "central stripe", also present in 3/10 SCN4A patients but no volunteers. Degree of fatty infiltration correlated with age (rho=0.46, p<0.05). Muscle MRI is frequently abnormal in non-dystrophic myotonia providing evidence of fatty infiltration and/or oedema. The pattern is distinct from other myotonic disorders; in particular the "central stripe" has not been reported in other conditions. Correlations with clinical parameters suggest a potential role for MRI as a biomarker.
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