Upper girdle imaging in facioscapulohumeral muscular dystrophy

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

Research output: Contribution to journalArticle

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.

Original languageEnglish
Article numbere100292
JournalPLoS One
Volume9
Issue number6
DOIs
Publication statusPublished - Jun 16 2014

Fingerprint

Facioscapulohumeral Muscular Dystrophy
muscular dystrophy
Muscle
image analysis
Imaging techniques
Muscles
muscular diseases
muscles
Superficial Back Muscles
Muscular Diseases
Sequence Inversion
Recovery
Rotator Cuff
Muscular Dystrophies
Natural History
Magnetic resonance imaging
Physical Examination
natural history
clinical examination
Neck

ASJC Scopus subject areas

  • Agricultural and Biological Sciences(all)
  • Biochemistry, Genetics and Molecular Biology(all)
  • Medicine(all)

Cite this

Tasca, G., Monforte, M., Iannaccone, E., Laschena, F., Ottaviani, P., Leoncini, E., ... Ricci, E. (2014). Upper girdle imaging in facioscapulohumeral muscular dystrophy. PLoS One, 9(6), [e100292]. https://doi.org/10.1371/journal.pone.0100292

Upper girdle imaging in facioscapulohumeral muscular dystrophy. / Tasca, Giorgio; Monforte, Mauro; Iannaccone, Elisabetta; Laschena, Francesco; Ottaviani, Pierfrancesco; Leoncini, Emanuele; Boccia, Stefania; Galluzzi, Giuliana; Pelliccioni, Marco; Masciullo, Marcella; Frusciante, Roberto; Mercuri, Eugenio; Ricci, Enzo.

In: PLoS One, Vol. 9, No. 6, e100292, 16.06.2014.

Research output: Contribution to journalArticle

Tasca, G, Monforte, M, Iannaccone, E, Laschena, F, Ottaviani, P, Leoncini, E, Boccia, S, Galluzzi, G, Pelliccioni, M, Masciullo, M, Frusciante, R, Mercuri, E & Ricci, E 2014, 'Upper girdle imaging in facioscapulohumeral muscular dystrophy', PLoS One, vol. 9, no. 6, e100292. https://doi.org/10.1371/journal.pone.0100292
Tasca G, Monforte M, Iannaccone E, Laschena F, Ottaviani P, Leoncini E et al. Upper girdle imaging in facioscapulohumeral muscular dystrophy. PLoS One. 2014 Jun 16;9(6). e100292. https://doi.org/10.1371/journal.pone.0100292
Tasca, Giorgio ; Monforte, Mauro ; Iannaccone, Elisabetta ; Laschena, Francesco ; Ottaviani, Pierfrancesco ; Leoncini, Emanuele ; Boccia, Stefania ; Galluzzi, Giuliana ; Pelliccioni, Marco ; Masciullo, Marcella ; Frusciante, Roberto ; Mercuri, Eugenio ; Ricci, Enzo. / Upper girdle imaging in facioscapulohumeral muscular dystrophy. In: PLoS One. 2014 ; Vol. 9, No. 6.
@article{c41983b98ca0475591057f1445646bbd,
title = "Upper girdle imaging in facioscapulohumeral muscular dystrophy",
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.",
author = "Giorgio Tasca and Mauro Monforte and Elisabetta Iannaccone and Francesco Laschena and Pierfrancesco Ottaviani and Emanuele Leoncini and Stefania Boccia and Giuliana Galluzzi and Marco Pelliccioni and Marcella Masciullo and Roberto Frusciante and Eugenio Mercuri and Enzo Ricci",
year = "2014",
month = "6",
day = "16",
doi = "10.1371/journal.pone.0100292",
language = "English",
volume = "9",
journal = "PLoS One",
issn = "1932-6203",
publisher = "Public Library of Science",
number = "6",

}

TY - JOUR

T1 - Upper girdle imaging in facioscapulohumeral muscular dystrophy

AU - Tasca, Giorgio

AU - Monforte, Mauro

AU - Iannaccone, Elisabetta

AU - Laschena, Francesco

AU - Ottaviani, Pierfrancesco

AU - Leoncini, Emanuele

AU - Boccia, Stefania

AU - Galluzzi, Giuliana

AU - Pelliccioni, Marco

AU - Masciullo, Marcella

AU - Frusciante, Roberto

AU - Mercuri, Eugenio

AU - Ricci, Enzo

PY - 2014/6/16

Y1 - 2014/6/16

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=84903186800&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84903186800&partnerID=8YFLogxK

U2 - 10.1371/journal.pone.0100292

DO - 10.1371/journal.pone.0100292

M3 - Article

C2 - 24932477

AN - SCOPUS:84903186800

VL - 9

JO - PLoS One

JF - PLoS One

SN - 1932-6203

IS - 6

M1 - e100292

ER -