Upper Girdle Imaging in Facioscapulohumeral Muscular Dystrophy

Stefania Boccia, Eugenio Maria Mercuri, Enzo Ricci, Mauro Monforte, Elisabetta Iannaccone, Emanuele Leoncini, Marco Pelliccioni, Marcella Masciullo, Roberto Frusciante, Giorgio Tasca, Francesco Laschena, Pierfrancesco Ottaviani, Giuliana Galluzzi

Risultato della ricerca: Contributo in rivistaArticolo in rivista

50 Citazioni (Scopus)

Abstract

Background: In Facioscapulohumeral muscular dystrophy (FSHD), the upper girdle is early involved and often difficult to assess only relying on physical examination. Our aim was to evaluate the pattern and degree of involvement of upper girdle muscles in FSHD compared with other muscle diseases with scapular girdle impairment. Methods: We propose an MRI protocol evaluating neck and upper girdle muscles. One hundred-eight consecutive symptomatic FSHD patients and 45 patients affected by muscular dystrophies and myopathies with prominent upper girdle involvement underwent this protocol. Acquired scans were retrospectively analyzed. Results: The trapezius (100% of the patients) and serratus anterior (85% of the patients) were the most and earliest affected muscles in FSHD, followed by the latissimus dorsi and pectoralis major, whilst spinati and subscapularis (involved in less than 4% of the patients) were consistently spared even in late disease stages. Asymmetry and hyperintensities on short-tau inversion recovery (STIR) sequences were common features, and STIR hyperintensities could also be found in muscles not showing signs of fatty replacement. The overall involvement appears to be disease-specific in FSHD as it significantly differed from that encountered in the other myopathies. Conclusions: The detailed knowledge of single muscle involvement provides useful information for correctly evaluating patients’ motor function and to set a baseline for natural history studies. Upper girdle imaging can also be used as an additional tool helpful in supporting the diagnosis of FSHD in unclear situations, and may contribute with hints on the currently largely unknown molecular pathogenesis of this disease.
Lingua originaleEnglish
pagine (da-a)N/A-N/A
RivistaPLoS One
Volume9
DOI
Stato di pubblicazionePubblicato - 2014

Keywords

  • Upper Girdle Imaging
  • facioscapulohumeral muscular dystrophy

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