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Muscular MRI-based algorithm to differentiate inherited myopathies presenting with spinal rigidity.
Mickael Tordjman1, Ivana Dabaj2, Pascal Laforet3
1Assistance Publique des Hôpitaux de Paris (AP-HP), Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital Raymond Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, Garches, France. mickael_tordjman@hotmail.com.
European Radiology
|May 27, 2018
Summary
Diagnosing inherited myopathies with spinal rigidity is challenging. Whole body MRI reveals specific muscle fat replacement patterns, enabling a novel algorithm for early, accurate diagnosis before genetic confirmation.
Area of Science:
- Neurology
- Radiology
- Genetics
Background:
- Inherited myopathies cause muscle atrophy and often present with rigid spine syndrome.
- Current diagnostic pathways for inherited myopathies are lengthy and require specialized centers.
Purpose of the Study:
- To develop a diagnostic algorithm using muscular whole body MRI (mWB-MRI) to aid in the early identification of inherited myopathies.
- To differentiate various inherited myopathies based on mWB-MRI findings before genetic confirmation.
Main Methods:
- A multicenter retrospective study involving 79 patients with inherited myopathies.
- Standardized mWB-MRI protocols (STIR, T1 sequences) were applied from head to toe.
- Manual analysis of mWB-MRI images to assess fatty muscle replacement using the Mercuri scale and statistical comparison.
Main Results:
- Seventy-six genetically confirmed patients with inherited myopathies (Pompe disease, RYR1, Collagen VI, LMNA, SEPN1, LAMA2, MYH7 mutations) were analyzed.
- Distinct mWB-MRI patterns of muscle involvement were identified for each myopathy.
- A novel decision algorithm based on mWB-MRI was created and validated with 94.3% diagnostic accuracy.
Conclusions:
- mWB-MRI provides a unique tool for orienting the diagnosis of inherited myopathies presenting with spinal rigidity.
- The developed MRI-based algorithm assists radiologists in the early diagnosis and differentiation of these conditions.
- This approach can significantly shorten the diagnostic timeline for patients with inherited myopathies.
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