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Muscle MRI findings in facioscapulohumeral muscular dystrophy

  • Magnetic Resonance
  • Published:
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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.

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Abbreviations

BMD:

Becker muscular dystrophy

DM1:

Myotonic dystrophy type 1

FOV:

Field of view

FSHD:

Facioscapulohumeral muscular dystrophy

LGMD:

Limb-girdle muscular dystrophy

MRI:

Magnetic resonance imaging

NFSHD:

Non-facioscapulohumeral muscular dystrophy

SNR:

Signal-to-noise ratio

ADD:

Adductors

BIC:

Biceps

DEL:

Deltoid

EXDL:

Extensor digitorum longus

TFL:

Tensor Fascia Lata

GASM:

Gastrocnemius medial

GASL:

Gastrocnemius lateral

GME:

Gluteus medium

GMI:

Gluteus minimus

GMX:

Gluteus maximus

GR:

Gracilis

ILI:

Iliacus

INFR:

Infraspinatus

LEVS:

Levator scapulae

MUL:

Multifidus

OBI:

Obturator internus muscle

OBL:

Obliquus abdomini

PEC:

Pectineus

PER:

Peroneal

PIR:

Piriformis

PMI:

Pectoralis minor

PMJ:

Pectoralis major

PSO:

Psoas

QUAF:

Quadratus femoris

RAB:

Rectus abdominis

RFEM:

Rectus femoris

RHO:

Rhomboid

SAR:

Sartorius

SCAL:

Scalenus muscle

SEM:

Semispinalis

SER:

Serratus anterior

SMB:

Semimembranous

SMT:

Semitendinous

SOL:

Soleus

SPLC:

Splenius capitis

SUBS:

Subscapularis

SUPR:

Supraspinatus

TA:

Tibialis anterior

TM:

Teres major

TP:

Tibialis posterior

TRA:

Transversus abdominis

TRP:

Trapezius

VLA:

Vastus lateralis

VME:

Vastus medialis

VIN:

Vastus intermedius

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Acknowledgments

We thank the technical staff of the neuroradiology unit and the biomedical engineer Marcello Cadioli for his support in MRI technical acquisition.

The scientific guarantor of this publication is Lucia Morandi. The authors of this manuscript declare no relationships with any companies whose products or services may be related to the subject matter of the article. Grant support: Telethon (GGP12024 to SCP), Ministry of Health (96/RF-2011-02347127 to SCP), AFM (18518 to SCP). One of the authors has significant statistical expertise. Institutional review board approval was obtained. Written informed consent was obtained from all subjects (patients) in this study. Methodology: prospective, diagnostic or prognostic, multicentre study.

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Authors and Affiliations

  1. Neuroradiology Unit, Head and Neck Department, IRCCS San Raffaele Scientific Institute, Milan, Italy

    Simonetta Gerevini, Giandomenico Caliendo & Andrea Falini

  2. Department of Neurology, INSPE and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy

    Marina Scarlato & Stefano Carlo Previtali

  3. Neuromuscular Diseases and Neuroimmunology Unit, Fondazione IRCCS Istituto Neurologico “Carlo Besta”, Milan, Italy

    Lorenzo Maggi, Barbara Pasanisi & Lucia Morandi

  4. Department of Radiology and Center for Experimental Imaging, IRCCS San Raffaele Scientific Institute, Milan, Italy

    Mariangela Cava

Authors
  1. Simonetta Gerevini
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  2. Marina Scarlato
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  3. Lorenzo Maggi
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  4. Mariangela Cava
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  7. Andrea Falini
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  8. Stefano Carlo Previtali
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  9. Lucia Morandi
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Correspondence to Simonetta Gerevini, Stefano Carlo Previtali or Lucia Morandi.

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Gerevini, S., Scarlato, M., Maggi, L. et al. Muscle MRI findings in facioscapulohumeral muscular dystrophy. Eur Radiol 26, 693–705 (2016). https://doi.org/10.1007/s00330-015-3890-1

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  • DOI: https://doi.org/10.1007/s00330-015-3890-1

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