Format

Send to

Choose Destination
PLoS One. 2014 Jun 16;9(6):e100292. doi: 10.1371/journal.pone.0100292. eCollection 2014.

Upper girdle imaging in facioscapulohumeral muscular dystrophy.

Author information

1
Don Carlo Gnocchi Onlus Foundation, Milan, Italy.
2
Institute of Neurology, Catholic University School of Medicine, Rome, Italy.
3
Department of Radiology, Istituto Dermopatico dell'Immacolata, IRCCS, Rome, Italy.
4
Institute of Hygiene-Department of Public Health, Catholic University School of Medicine, Rome, Italy.
5
Cellular Biology and Neurobiology Institute, CNR, Rome, Italy.
6
Unione Italiana Lotta Distrofia Muscolare (UILDM) Rome Section, Rome, Italy.
7
IRCCS Santa Lucia Foundation, Rome, Italy.
8
Neurophysiopathology Unit, Columbus Hospital, Catholic University School of Medicine, Rome, Italy.
9
Pediatric Neurology Unit, Catholic University School of Medicine, Rome, Italy.

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.

PMID:
24932477
PMCID:
PMC4059711
DOI:
10.1371/journal.pone.0100292
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Public Library of Science Icon for PubMed Central
Loading ...
Support Center