Top

Published in:

01-03-2016 | Magnetic Resonance

Muscle MRI findings in facioscapulohumeral muscular dystrophy

Authors: Simonetta Gerevini, Marina Scarlato, Lorenzo Maggi, Mariangela Cava, Giandomenico Caliendo, Barbara Pasanisi, Andrea Falini, Stefano Carlo Previtali, Lucia Morandi

Published in: European Radiology | Issue 3/2016

Abstract

Objectives

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by extremely variable degrees of facial, scapular and lower limb muscle involvement. Clinical and genetic determination can be difficult, as molecular analysis is not always definitive, and other similar muscle disorders may have overlapping clinical manifestations.

Methods and Materials

Whole-body muscle MRI examination for fat infiltration, atrophy and oedema was performed to identify specific patterns of muscle involvement in FSHD patients (30 subjects), and compared to a group of control patients (23) affected by other myopathies (NFSHD).

Results

In FSHD patients, we detected a specific pattern of muscle fatty replacement and atrophy, particularly in upper girdle muscles. The most frequently affected muscles, including paucisymptomatic and severely affected FSHD patients, were trapezius, teres major and serratus anterior. Moreover, asymmetric muscle involvement was significantly higher in FSHD as compared to NFSHD patients.

Conclusions

In conclusion, muscle MRI is very sensitive for identifying a specific pattern of involvement in FSHD patients and in detecting selective muscle involvement of non-clinically testable muscles. Muscle MRI constitutes a reliable tool for differentiating FSHD from other muscular dystrophies to direct diagnostic molecular analysis, as well as to investigate FSHD natural history and follow-up of the disease.

Key Points

• Muscle MRI identifies a specific pattern of muscle involvement in FSHD patients.

• Muscle MRI may predict FSHD in asymptomatic and severely affected patients.

• Muscle MRI of upper girdle better predicts FSHD.

• Muscle MRI may differentiate FSHD from other forms of muscular dystrophy.

• Muscle MRI may show the involvement of non-clinical testable muscles.

Available only for authorised users

Deenen JC, Arnts H, van der Maarel SM, Padberg GW, Verschuuren JJ, Bakker E, Weinreich SS, Verbeek AL, van Engelen BG (2014) Population-based incidence and prevalence of facioscapulohumeral dystrophy. Neurology 83(12):1056–1059PubMedCentralCrossRefPubMed

Padberg GW, Lunt PW, Koch M, Fardeau M (1991) Diagnostic criteria for facioscapulohumeral muscular dystrophy. Neuromuscul Disord 1(4):231–234CrossRefPubMed

Flanigan KM (2004) Facioscapulohumeral muscular dystrophy and scapuloperoneal disorders, Myology, 2nd edn. McGraw-Hill, New York

Wijmenga C, Hewitt JE, Sandkuijl LA, Clark LN, Wright TJ, Dauwerse HG, Gruter AM, Hofker MH, Moerer P, Williamson R et al (1992) Chromosome 4q DNA rearrangements associated with facioscapulohumeral muscular dystrophy. Nat Genet 2(1):26–30CrossRefPubMed

Cabianca DS, Casa V, Bodega B, Xynos A, Ginelli E, Tanaka Y, Gabellini D (2012) A long ncRNA links copy number variation to a polycomb/trithorax epigenetic switch in FSHD muscular dystrophy. Cell 149(4):819–831PubMedCentralCrossRefPubMed

Chan WP, Liu GC (2002) MR imaging of primary skeletal muscle diseases in children. AJR Am J Roentgenol 179(4):989–997CrossRefPubMed

Mercuri E, Clements E, Offiah A, Pichiecchio A, Vasco G, Bianco F, Berardinelli A, Manzur A, Pane M, Messina S, Gualandi F, Ricci E, Rutherford M, Muntoni F (2010) Muscle magnetic resonance imaging involvement in muscular dystrophies with rigidity of the spine. Ann Neurol 67(2):201–208CrossRefPubMed

Fischer D, Herasse M, Bitoun M, Barragan-Campos HM, Chiras J, Laforet P, Fardeau M, Eymard B, Guicheney P, Romero NB (2006) Characterization of the muscle involvement in dynamin 2-related centronuclear myopathy. Brain 129(Pt 6):1463–1469CrossRefPubMed

Fischer D, Kley RA, Strach K, Meyer C, Sommer T, Eger K, Rolfs A, Meyer W, Pou A, Pradas J, Heyer CM, Grossmann A, Huebner A, Kress W, Reimann J, Schroder R, Eymard B, Fardeau M, Udd B, Goldfarb L, Vorgerd M, Olive M (2008) Distinct muscle imaging patterns in myofibrillar myopathies. Neurology 71(10):758–765PubMedCentralCrossRefPubMed

10.

Stramare R, Beltrame V, Dal Borgo R, Gallimberti L, Frigo AC, Pegoraro E, Angelini C, Rubaltelli L, Feltrin GP (2010) MRI in the assessment of muscular pathology: a comparison between limb-girdle muscular dystrophies, hyaline body myopathies and myotonic dystrophies. Radiol Med 115(4):585–599CrossRefPubMed

11.

Olsen DB, Gideon P, Jeppesen TD, Vissing J (2006) Leg muscle involvement in facioscapulohumeral muscular dystrophy assessed by MRI. J Neurol 253(11):1437–1441CrossRefPubMed

12.

Kan HE, Scheenen TW, Wohlgemuth M, Klomp DW, van Loosbroek-Wagenmans I, Padberg GW, Heerschap A (2009) Quantitative MR imaging of individual muscle involvement in facioscapulohumeral muscular dystrophy. Neuromuscul Disord 19(5):357–362CrossRefPubMed

13.

Friedman SD, Poliachik SL, Carter GT, Budech CB, Bird TD, Shaw DW (2012) The magnetic resonance imaging spectrum of facioscapulohumeral muscular dystrophy. Muscle Nerve 45(4):500–506CrossRefPubMed

14.

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 9(6), e100292. doi:10.1371/journal.pone.0100292 PubMedCentralCrossRefPubMed

15.

Upadhyaya M, Cooper DN (2002) Molecular diagnosis of facioscapulohumeral muscular dystrophy. Expert Rev Mol Diagn 2(2):160–171CrossRefPubMed

16.

Gerevini S, Mandelli C, Cadioli M, Scotti G (2008) Diagnostic value and surgical implications of the magnetic resonance imaging in the management of adult patients with brachial plexus pathologies. SurgRadiol Anat 30(2):91–101. doi:10.1007/s00276-007-0292-3

17.

Poliachik SL, Friedman SD, Carter GT, Parnell SE, Shaw DW (2012) Skeletal muscle edema in muscular dystrophy: clinical and diagnostic implications. Phys Med Rehabil Clin N Am 23(1):107–122, xi CrossRefPubMed

18.

Lamminen AE (1990) Magnetic resonance imaging of primary skeletal muscle diseases: patterns of distribution and severity of involvement. Br J Radiol 63(756):946–950CrossRefPubMed

19.

Mercuri E, Pichiecchio A, Allsop J, Messina S, Pane M, Muntoni F (2007) Muscle MRI in inherited neuromuscular disorders: past, present, and future. J Magn Reson Imaging 25(2):433–440CrossRefPubMed

20.

Alizai H, Nardo L, Karampinos DC, Joseph GB, Yap SP, Baum T, Krug R, Majumdar S, Link TM (2012) Comparison of clinical semi-quantitative assessment of muscle fat infiltration with quantitative assessment using chemical shift-based water/fat separation in MR studies of the calf of post-menopausal women. Eur Radiol 22(7):1592–1600PubMedCentralCrossRefPubMed

21.

Lim HK, Hong SH, Yoo HJ, Choi JY, Kim SH, Choi JA, Kang HS (2014) Visual MRI grading system to evaluate atrophy of the supraspinatus muscle. Korean J Radiol 15(4):501–507PubMedCentralCrossRefPubMed

22.

Lamperti C, Fabbri G, Vercelli L, D'Amico R, Frusciante R, Bonifazi E, Fiorillo C, Borsato C, Cao M, Servida M, Greco F, Di Leo R, Volpi L, Manzoli C, Cudia P, Pastorello E, Ricciardi L, Siciliano G, Galluzzi G, Rodolico C, Santoro L, Tomelleri G, Angelini C, Ricci E, Palmucci L, Moggio M, Tupler R (2010) A standardized clinical evaluation of patients affected by facioscapulohumeral muscular dystrophy: The FSHD clinical score. Muscle Nerve 42(2):213–217CrossRefPubMed

23.

Fanin M, Angelini C (2002) Muscle pathology in dysferlin deficiency. Neuropathol Appl Neurobiol 28(6):461–470CrossRefPubMed

24.

Angelini C, Pegoraro E, Zambito Marsala S, Vergani L, Nascimbeni AC, Fulizio L, Fanin M (2004) Adult acid maltase deficiency: an open trial with albuterol and branched-chain aminoacids. Basic Appl Myol 14:71–78

25.

Frisullo G, Frusciante R, Nociti V, Tasca G, Renna R, Iorio R, Patanella AK, Iannaccone E, Marti A, Rossi M, Bianco A, Monforte M, Tonali PA, Mirabella M, Batocchi AP, Ricci E (2011) CD8(+) T cells in facioscapulohumeral muscular dystrophy patients with inflammatory features at muscle MRI. J Clin Immunol 31(2):155–166CrossRefPubMed

26.

Tasca G, Pescatori M, Monforte M, Mirabella M, Iannaccone E, Frusciante R, Cubeddu T, Laschena F, Ottaviani P, Ricci E (2012) Different molecular signatures in magnetic resonance imaging-staged facioscapulohumeral muscular dystrophy muscles. PLoS One 7(6), e38779. doi:10.1371/journal.pone.0038779 PubMedCentralCrossRefPubMed

27.

Janssen BH, Voet NB, Nabuurs CI, Kan HE, de Rooy JW, Geurts AC, Padberg GW, van Engelen BG, Heerschap A (2014) Distinct disease phases in muscles of facioscapulohumeral dystrophy patients identified by MR detected fat infiltration. PLoS One 9(1), e85416. doi:10.1371/journal.pone.0085416 PubMedCentralCrossRefPubMed

28.

Dahlqvist JR, Vissing CR, Thomsen C, Vissing J (2014) Severe paraspinal muscle involvement in facioscapulohumeral muscular dystrophy. Neurology 83(13):1178–1183CrossRefPubMed

29.

Azzabou N, Loureiro de Sousa P, Caldas E, Carlier PG (2015) Validation of a generic approach to muscle water T2 determination at 3T in fat-infiltrated skeletal muscle. J Magn Reson Imaging 41(3):645–653CrossRefPubMed

30.

Goutallier D, Postel JM, Bernageau J, Lavau L, Voisin MC (1994) Fatty muscle degeneration in cuff ruptures. Pre- and postoperative evaluation by CT scan. Clin Orthop Relat Res 304:78–83PubMed

31.

Fuchs B, Weishaupt D, Zanetti M, Hodler J, Gerber C (1999) Fatty degeneration of the muscles of the rotator cuff: assessment by computed tomography versus magnetic resonance imaging. J Shoulder Elb Surg 8(6):599–605CrossRef

32.

Kornblum C, Lutterbey G, Bogdanow M, Kesper K, Schild H, Schroder R, Wattjes MP (2006) Distinct neuromuscular phenotypes in myotonic dystrophy types 1 and 2: a whole body highfield MRI study. J Neurol 253(6):753–761CrossRefPubMed

33.

Mercuri E, Talim B, Moghadaszadeh B, Petit N, Brockington M, Counsell S, Guicheney P, Muntoni F, Merlini L (2002) Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1). Neuromuscul Disord 12(7–8):631–638CrossRefPubMed

Title: Muscle MRI findings in facioscapulohumeral muscular dystrophy
Authors: Simonetta Gerevini
Marina Scarlato
Lorenzo Maggi
Mariangela Cava
Giandomenico Caliendo
Barbara Pasanisi
Andrea Falini
Stefano Carlo Previtali
Lucia Morandi
Publication date: 01-03-2016
Publisher: Springer Berlin Heidelberg
Published in: European Radiology / Issue 3/2016
Print ISSN: 0938-7994
Electronic ISSN: 1432-1084
DOI: https://doi.org/10.1007/s00330-015-3890-1

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Muscle MRI findings in facioscapulohumeral muscular dystrophy

Abstract

Objectives

Methods and Materials

Results

Conclusions

Key Points

Keynote webinar | Spotlight on medication adherence

Springer Medicine

Abstract

Objectives

Methods and Materials

Results

Conclusions

Key Points

Please log in to get access to this content

Other articles of this Issue 3/2016

MR elastography of the liver at 3.0 T in diagnosing liver fibrosis grades; preliminary clinical experience

Comparison of diagnostic accuracy of 111In-pentetreotide SPECT and 68Ga-DOTATOC PET/CT: A lesion-by-lesion analysis in patients with metastatic neuroendocrine tumours

Consensus report from the 7th International Forum for Liver Magnetic Resonance Imaging

Assessment of CF lung disease using motion corrected PROPELLER MRI: a comparison with CT

An appraisal of the computed axial tomographic appearance of the human mesentery based on mesenteric contiguity from the duodenojejunal flexure to the mesorectal level

3D quantitative assessment of response to fractionated stereotactic radiotherapy and single-session stereotactic radiosurgery of vestibular schwannoma