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Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging

Lookup NU author(s): Roberto Fernandez Torron, Dr Chiara Marini Bettolo, Dr Jana Haberlova, Professor Volker StraubORCiD, Professor Giorgio TascaORCiD


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© 2020 European Academy of Neurology. Background and purpose: The aim was to define the radiological picture of facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1 and to explore correlations between imaging and clinical/molecular data. Methods: Upper girdle and/or lower limb muscle magnetic resonance imaging scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centres were analysed. T1-weighted and short-tau inversion recovery (STIR) sequences were used to evaluate the global pattern and to assess the extent of fatty replacement and muscle oedema. Results: The most frequently affected muscles were obliquus and transversus abdominis, semimembranosus, soleus and gluteus minimus in the lower limbs; trapezius, serratus anterior, latissimus dorsi and pectoralis major in the upper girdle. Iliopsoas, popliteus, obturator internus and tibialis posterior in the lower limbs and subscapularis, spinati, sternocleidomastoid and levator scapulae in the upper girdle were the most spared. Asymmetry and STIR hyperintensities were consistent features. The pattern of muscle involvement was similar to that of FSHD1, and the combined involvement of trapezius, abdominal and hamstring muscles, together with complete sparing of iliopsoas and subscapularis, was detected in 91% of patients. Peculiar differences were identified in a rostro-caudal gradient, a predominant involvement of lower limb muscles compared to the upper girdle, and in the higher percentage of STIR hyperintensities in FSHD2. Conclusion: This multicentre study defines the pattern of muscle involvement in FSHD2, providing useful information for diagnostics and clinical trial design. Both similarities and differences between FSHD1 and FSHD2 were detected, which is also relevant to better understand the pathogenic mechanisms underlying the FSHD-related disease spectrum.

Publication metadata

Author(s): Giacomucci G, Monforte M, Diaz-Manera J, Mul K, Fernandez Torron R, Maggi L, Marini Bettolo C, Dahlqvist JR, Haberlova J, Camano P, Gros M, Tartaglione T, Cristiano L, Gerevini S, Calandra P, Deidda G, Giardina E, Sacconi S, Straub V, Vissing J, Van Engelen B, Ricci E, Tasca G

Publication type: Article

Publication status: Published

Journal: European Journal of Neurology

Year: 2020

Volume: 27

Issue: 12

Pages: 2604-2615

Print publication date: 01/12/2020

Online publication date: 22/07/2020

Acceptance date: 15/07/2020

ISSN (print): 1351-5101

ISSN (electronic): 1468-1331

Publisher: Wiley-Blackwell Publishing Ltd


DOI: 10.1111/ene.14446

PubMed id: 32697863


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