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. 2022 May;269(5):2414-2429.
doi: 10.1007/s00415-021-10806-0. Epub 2021 Sep 24.

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Susana Quijano-Roy  1   2 , Jana Haberlova  3 , Claudia Castiglioni  4   5 , John Vissing  6 , Francina Munell  7 , François Rivier  8   9 , Tanya Stojkovic  10 , Edoardo Malfatti  11 , Marta Gómez García de la Banda  1 , Giorgio Tasca  12 , Laura Costa Comellas  7 , Audrey Benezit  1 , Helge Amthor  1   2 , Ivana Dabaj  1   13 , Clara Gontijo Camelo  14 , Pascal Laforêt  15 , John Rendu  16 , Norma B Romero  17   18 , Eliana Cavassa  1 , Fabiana Fattori  19 , Christophe Beroud  20 , Jana Zídková  21 , Nicolas Leboucq  22 , Nicoline Løkken  6 , Ángel Sanchez-Montañez  23 , Ximena Ortega  24 , Martin Kynčl  25 , Corinne Metay  26   27 , David Gómez-Andrés  28 , Robert Y Carlier  29
Affiliations

Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort

Susana Quijano-Roy et al. J Neurol. 2022 May.

Abstract

Background: LAMA2-related muscular dystrophy (LAMA2-RD) encompasses a group of recessive muscular dystrophies caused by mutations in the LAMA2 gene, which codes for the alpha-2 chain of laminin-211 (merosin). Diagnosis is straightforward in the classic congenital presentation with no ambulation and complete merosin deficiency in muscle biopsy, but is far more difficult in milder ambulant individuals with partial merosin deficiency.

Objective: To investigate the diagnostic utility of muscle imaging in LAMA2-RD using whole-body magnetic resonance imaging (WBMRI).

Results: 27 patients (2-62 years, 21-80% with acquisition of walking ability and 6 never ambulant) were included in an international collaborative study. All carried two pathogenic mutations, mostly private missense changes. An intronic variant (c.909 + 7A > G) was identified in all the Chilean cases. Three patients (two ambulant) showed intellectual disability, epilepsy, and brain structural abnormalities. WBMRI T1w sequences or T2 fat-saturated images (Dixon) revealed abnormal muscle fat replacement predominantly in subscapularis, lumbar paraspinals, gluteus minimus and medius, posterior thigh (adductor magnus, biceps femoris, hamstrings) and soleus. This involvement pattern was consistent for both ambulant and non-ambulant patients. The degree of replacement was predominantly correlated to the disease duration, rather than to the onset or the clinical severity. A "COL6-like sandwich sign" was observed in several muscles in ambulant adults, but different involvement of subscapularis, gluteus minimus, and medius changes allowed distinguishing LAMA2-RD from collagenopathies. The thigh muscles seem to be the best ones to assess disease progression.

Conclusion: WBMRI in LAMA2-RD shows a homogeneous pattern of brain and muscle imaging, representing a supportive diagnostic tool.

Keywords: Congenital muscular dystrophy; Heatmap; Merosin; Muscle MRI; Myopathy.

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References

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