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Muscle “islands”: an MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness

Guja, A; Morrow Jasper, M; Adnan, M; Roxana, G; Roberta, B; Eugenio, M; M, RM; ... A, YT; + view all (2021) Muscle “islands”: an MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness. Neuromuscular Disorders 10.1016/j.nmd.2021.11.003.

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Abstract

Muscle MRI has an increasing role in diagnosis of inherited neuromuscular diseases, but no features are known which reliably differentiate myopathic and neurogenic conditions. Using patients presenting with early onset distal weakness, we aimed to identify an MRI signature to distinguish myopathic and neurogenic conditions. We identified lower limb MRI scans from patients with either genetically (n=24) or clinically (n=13) confirmed diagnoses of childhood onset distal myopathy or distal spinal muscular atrophy. An initial exploratory phase reviewed 11 scans from genetically confirmed patients identifying a single potential discriminatory marker concerning the pattern of fat replacement within muscle, coined “islands”. This pattern comprised small areas of muscle tissue with normal signal intensity completely surrounded by areas with similar intensity to subcutaneous fat. In the subsequent validation phase, islands correctly classified scans from all 12 remaining genetically confirmed patients, and 12/13 clinically classified patients. In the genetically confirmed patients MRI classification of neurogenic/myopathic aetiology had 100% accuracy (24/24) compared with 65% accuracy (15/23) for EMG, and 79% accuracy (15/19) for muscle biopsy. Future studies are needed in other clinical contexts, however the presence of islands appears to highly suggestive of a neurogenic aetiology in patients presenting with early onset distal motor weakness.

Type: Article
Title: Muscle “islands”: an MRI signature distinguishing neurogenic from myopathic causes of early onset distal weakness
DOI: 10.1016/j.nmd.2021.11.003
Publisher version: https://doi.org/10.1016/j.nmd.2021.11.003
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: MRI, distal myopathy, distal spinal muscular atrophy, early-onset
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Developmental Neurosciences Dept
URI: https://discovery.ucl.ac.uk/id/eprint/10139082
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