Liliana Vercelli1, Fabiano Mele2, Lucia Ruggiero3, Francesco Sera4, Silvia Tripodi5, Giulia Ricci2,6, Antonio Vallarola7,8, Luisa Villa9, Monica Govi2, Louise Maranda10, Antonio Di Muzio11, Marina Scarlato12, Elisabetta Bucci13, Lorenzo Maggi14, Carmelo Rodolico15, Maurizio Moggio9, Massimiliano Filosto16, Giovanni Antonini13, Stefano Previtali12, Corrado Angelini17, Angela Berardinelli18, Elena Pegoraro5, Gabriele Siciliano6, Giuliano Tomelleri7,8, Lucio Santoro3, Tiziana Mongini19, Rossella Tupler20,21,22,23. 1. Department of Neurosciences "Rita Levi Montalcini", Center for Neuromuscular Diseases, University of Turin, Turin, Italy. 2. Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. 3. Department of Neurosciences, Reproductive and Odontostomatological Sciences, University Federico II of Naples, Naples, Italy. 4. Department of Public Health, Environments and Society, London School of Hygiene and Tropical Medicine, London, UK. 5. Department of Neurosciences, University of Padua, Padua, Italy. 6. Department of Clinical and Experimental Medicine, Neurological Clinic, University of Pisa, Pisa, Italy. 7. Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, via G. Campi 287, 41125, Modena, Italy. 8. Center for Neuroscience and Neurotechnology, University of Modena and Reggio Emilia, Modena, Italy. 9. Neuromuscular Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Dino Ferrari Center, University of Milan, Milan, Italy. 10. Department of Population and Quantitative Health Sciences, University of Massachusetts Medical School, Worcester, USA. 11. Center for Neuromuscular Disease, CeSI, University "G. D'Annunzio", Chieti, Italy. 12. INSPE and Division of Neuroscience, IRCCS San Raffaele Scientific Institute, Milan, Italy. 13. Department of Neuroscience, Mental Health and Sensory Organs, S. Andrea Hospital, University of Rome "La Sapienza", Rome, Italy. 14. IRCCS Foundation, C. Besta Neurological Institute, Milan, Italy. 15. Department of Neurosciences, Policlinico "G. Martino", University of Messina, Messina, Italy. 16. Neurology Clinic, Spedali Civili Hospital, Brescia, Italy. 17. IRCCS San Camillo, Venice, Italy. 18. Unit of Child Neurology and Psychiatry, IRCCS "C. Mondino" Foundation, Pavia, Italy. 19. Department of Neurosciences "Rita Levi Montalcini", Center for Neuromuscular Diseases, University of Turin, Turin, Italy. rossella.tupler@unimore.it. 20. Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, via G. Campi 287, 41125, Modena, Italy. rossella.tupler@unimore.it. 21. Center for Neuroscience and Neurotechnology, University of Modena and Reggio Emilia, Modena, Italy. rossella.tupler@unimore.it. 22. Department of Molecular Cell and Cancer Biology, University of Massachusetts Medical School, Worcester, USA. rossella.tupler@unimore.it. 23. Li Weibo Institute for Rare Diseases Research at the University of Massachusetts Medical School, Worcester, USA. rossella.tupler@unimore.it.
Abstract
BACKGROUND: The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined. METHODS: An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified all patients using the Comprehensive Clinical Evaluation Form (CCEF). The disease progression was measured as a variation of the FSHD score performed at baseline and at the end of 5-year follow-up (ΔFSHD score). FINDINGS: Disease worsened in 79.4% (112/141) of index cases versus 38.1% (40/105) of carrier relatives and advanced more rapidly in index cases (ΔFSHD score 2.3 versus 1.2). The 79.1% (38/48) of asymptomatic carriers remained asymptomatic. The highest ΔFSHD score (1.7) was found in subject with facial and scapular weakness at baseline (category A), whereas in subjects with incomplete phenotype (facial or scapular weakness, category B) had lower ΔFSHD score (0.6) p < 0.0001. CONCLUSIONS: The progression of disease is different between index cases and carrier relatives and the assessment of the CCEF categories has strong prognostic effect in FSHD1 patients.
BACKGROUND: The natural history of facioscapulohumeral muscular dystrophy (FSHD) is undefined. METHODS: An observational cohort study was conducted in 246 FSHD1 patients. We split the analysis between index cases and carrier relatives and we classified all patients using the Comprehensive Clinical Evaluation Form (CCEF). The disease progression was measured as a variation of the FSHD score performed at baseline and at the end of 5-year follow-up (ΔFSHD score). FINDINGS: Disease worsened in 79.4% (112/141) of index cases versus 38.1% (40/105) of carrier relatives and advanced more rapidly in index cases (ΔFSHD score 2.3 versus 1.2). The 79.1% (38/48) of asymptomatic carriers remained asymptomatic. The highest ΔFSHD score (1.7) was found in subject with facial and scapular weakness at baseline (category A), whereas in subjects with incomplete phenotype (facial or scapular weakness, category B) had lower ΔFSHD score (0.6) p < 0.0001. CONCLUSIONS: The progression of disease is different between index cases and carrier relatives and the assessment of the CCEF categories has strong prognostic effect in FSHD1 patients.
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