Deep phenotyping of facioscapulohumeral muscular dystrophy type 2 by magnetic resonance imaging
Por:
Giacomucci, G, Monforte, M, Diaz-Manera, J, Mul, K, Torron, RF, Maggi, L, Bettolo, CM, Dahlqvist, JR, Haberlova, J, Camano, P, Gros, M, Tartaglione, T, Cristiano, L, Gerevini, S, Calandra, P, Deidda, G, Giardina, E, Sacconi, S, Straub, V, Vissing, J, Van Engelen, B, Ricci, E, Tasca, G
Publicada:
1 dic 2020
Ahead of Print:
1 ago 2020
Resumen:
Background and purpose The aim was 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 magnetic resonance imaging scans of 34 molecularly confirmed FSHD2 patients from nine European neuromuscular centres were analysed. 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 oedema. 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 multicentre 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.
Filiaciones:
Giacomucci, G:
Univ Cattolica Sacro Cuore, Ist Neurol, Rome, Italy
Monforte, M:
Fdn Policlin Univ A Gemelli IRCCS, Unita Operat Complessa Neurol, Rome, Italy
Diaz-Manera, J:
Univ Autonoma Barcelona, Hosp Santa Creu & St Pau, Dept Neurol, Neuromuscular Disorders Unit, Barcelona, Spain
Ctr Invest Biomed Red Enfermedades Raras CIBERER, Barcelona, Spain
Mul, K:
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neurol, Med Ctr, Nijmegen, Netherlands
Torron, RF:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England
Hosp Donostia, Biodonostia Hlth Res Inst, Neurol Dept, Basque Hlth Serv,Neuromuscular Area, Donostia San Sebastian, Spain
Maggi, L:
Fdn IRCCS Ist Neurol Carlo Besta, Neuroimmunol & Neuromuscular Dis Unit, Milan, Italy
Bettolo, CM:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England
Dahlqvist, JR:
Copenhagen Univ Hosp, Rigshosp, Copenhagen Neuromuscular Ctr, Copenhagen, Denmark
Haberlova, J:
Charles Univ Prague, Fac Med 2, Dept Pediat Neurol, Prague, Czech Republic
Univ Hosp Moto, Prague, Czech Republic
Camano, P:
Grp Neuromuscular Dis, Neurosci Area, Biodonostia, San Sebastian, Spain
Biodonostia Osakidetza Basque Hlth Serv, Mol Diagnost Platform, San Sebastian, Spain
Gros, M:
Univ Cote Azur UCA, Muscle & ALS Dept, Pasteur Hosp 2, Peripheral Nervous Syst, Nice, France
Univ Cote Azur, Inst Res Canc & Aging Nice IRCAN, CNRS, INSERM, Nice, France
Tartaglione, T:
Ist Dermopat Immacolata IRCCS FLMM, Radiol Unit, Rome, Italy
Cristiano, L:
Ist Dermopat Immacolata IRCCS FLMM, Radiol Unit, Rome, Italy
Gerevini, S:
IRCCS San Raffaele Hosp, Neuroradiol Dept, Milan, Italy
Calandra, P:
Natl Res Council Italy, Inst Cell Biol & Neurobiol, Rome, Italy
Deidda, G:
Natl Res Council Italy, Inst Cell Biol & Neurobiol, Rome, Italy
Giardina, E:
Univ Roma Tor Vergata, Mol Genet Lab UILDM, Santa Lucia Fdn IRCSS, Rome, Italy
Sacconi, S:
Univ Cote Azur UCA, Muscle & ALS Dept, Pasteur Hosp 2, Peripheral Nervous Syst, Nice, France
Univ Cote Azur, Inst Res Canc & Aging Nice IRCAN, CNRS, INSERM, Nice, France
Straub, V:
Newcastle Univ, John Walton Muscular Dystrophy Res Ctr, Inst Genet Med, Newcastle Upon Tyne, Tyne & Wear, England
Vissing, J:
Copenhagen Univ Hosp, Rigshosp, Copenhagen Neuromuscular Ctr, Copenhagen, Denmark
Van Engelen, B:
Radboud Univ Nijmegen, Donders Inst Brain Cognit & Behav, Dept Neurol, Med Ctr, Nijmegen, Netherlands
Ricci, E:
Univ Cattolica Sacro Cuore, Ist Neurol, Rome, Italy
Fdn Policlin Univ A Gemelli IRCCS, Unita Operat Complessa Neurol, Rome, Italy
Tasca, G:
Fdn Policlin Univ A Gemelli IRCCS, Unita Operat Complessa Neurol, Rome, Italy
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