Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F20%3A10412712" target="_blank" >RIV/00216208:11130/20:10412712 - isvavai.cz</a>
Alternative codes found
RIV/00064203:_____/20:10412712
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=_vKh6P2COU" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=_vKh6P2COU</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/ene.14446" target="_blank" >10.1111/ene.14446</a>
Alternative languages
Result language
angličtina
Original language name
Deep phenotyping of Facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
Original language description
BACKGROUND: We aimed to define the radiological picture of Facioscapulohumeral muscular dystrophy 2 (FSHD2) in comparison with FSHD1, and to explore correlations between imaging and clinical/molecular data. METHODS: Upper girdle and/or lower limb muscle MRI scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centers were analyzed. T1-weighted and Short-tau inversion recovery (STIR) sequences were used to evaluate the global pattern and to assess the extent of fatty replacement and muscle edema. RESULTS: The most frequently affected muscles were obliquus and transversus abdominis, semimembranosus, soleus and gluteus minimus in the lower limbs; trapezius, serratus anterior, latissimus dorsi and pectoralis major in the upper girdle. Iliopsoas, popliteus, obturator internus and tibialis posterior in the lower limbs and subscapularis, spinati, sternocleidomastoid, and levator scapulae in the upper girdle were the most spared. Asymmetry and STIR hyperintensities were consistent features. The pattern of muscle involvement was similar to that of FSHD1, and the combined involvement of trapezius, abdominal and hamstring muscles, together with complete sparing of iliopsoas and subscapularis was detected in 91% of patients. Peculiar differences were identified in a rostro-caudal gradient, a predominant involvement of lower limb muscles compared to the upper girdle, and in the higher percentage of STIR hyperintensities in FSHD2. CONCLUSION: This multicenter study defines the pattern of muscle involvement in FSHD2, providing useful information for diagnostics and clinical trial design. Both similarities and differences between FSHD1 and FSHD2 were detected, which is also relevant to better understand the pathogenic mechanisms underlying the FSHD-related disease spectrum.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30103 - Neurosciences (including psychophysiology)
Result continuities
Project
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Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2020
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
European Journal of Neurology
ISSN
1351-5101
e-ISSN
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Volume of the periodical
27
Issue of the periodical within the volume
12
Country of publishing house
GB - UNITED KINGDOM
Number of pages
12
Pages from-to
2604-2615
UT code for WoS article
000559475900001
EID of the result in the Scopus database
2-s2.0-85089387138