Kevin J Felice1, Charles H Whitaker. 1. From the Department of Neurology, University of Connecticut School of Medicine, Farmington, CT.
Abstract
OBJECTIVES: : The objectives of this study were to characterize the clinical features of facioscapulohumeral muscular dystrophy (FSHD) in patients with borderline (>/=35 kb) EcoRI fragments and to compare patients with borderline EcoRI fragments with FSHD patients harboring fragments of <35 kb. BACKGROUND: : Most patients with FSHD harbor 4q35 EcoRI fragments of less than 35 kb. The clinical findings in patients with borderline fragments are not well known. METHODS: : The authors conducted a retrospective review of patients with FSHD followed at a regional neuromuscular center over a 12-year period. RESULTS: : Eleven patients with DNA-positive FSHD, found to harbor borderline (>/=35 kb) EcoRI fragments (group 1), were compared with 30 patients with fragments of <35 kb (group 2). Group 1 patients were less likely (18%) to present with the classic FSHD phenotype as compared with group 2 patients (63%). Statistically significant differences in clinical disease severity and manual muscle testing scores were noted between the 2 groups, with group 1 patients showing less severe weakness and disability at presentation. CONCLUSIONS: : Patients with borderline fragments are more likely to have a partial or less severe form of FSHD, probably resulting from a less disruptive DNA alteration at the 4q35 locus.
OBJECTIVES: : The objectives of this study were to characterize the clinical features of facioscapulohumeral muscular dystrophy (FSHD) in patients with borderline (>/=35 kb) EcoRI fragments and to compare patients with borderline EcoRI fragments with FSHDpatients harboring fragments of <35 kb. BACKGROUND: : Most patients with FSHD harbor 4q35 EcoRI fragments of less than 35 kb. The clinical findings in patients with borderline fragments are not well known. METHODS: : The authors conducted a retrospective review of patients with FSHD followed at a regional neuromuscular center over a 12-year period. RESULTS: : Eleven patients with DNA-positive FSHD, found to harbor borderline (>/=35 kb) EcoRI fragments (group 1), were compared with 30 patients with fragments of <35 kb (group 2). Group 1 patients were less likely (18%) to present with the classic FSHD phenotype as compared with group 2 patients (63%). Statistically significant differences in clinical disease severity and manual muscle testing scores were noted between the 2 groups, with group 1 patients showing less severe weakness and disability at presentation. CONCLUSIONS: : Patients with borderline fragments are more likely to have a partial or less severe form of FSHD, probably resulting from a less disruptive DNA alteration at the 4q35 locus.
Authors: Sabrina Sacconi; Richard J L F Lemmers; Judit Balog; Patrick J van der Vliet; Pauline Lahaut; Merlijn P van Nieuwenhuizen; Kirsten R Straasheijm; Rashmie D Debipersad; Marianne Vos-Versteeg; Leonardo Salviati; Alberto Casarin; Elena Pegoraro; Rabi Tawil; Egbert Bakker; Stephen J Tapscott; Claude Desnuelle; Silvère M van der Maarel Journal: Am J Hum Genet Date: 2013-09-26 Impact factor: 11.025
Authors: T G J Loonen; C G C Horlings; S C C Vincenten; C H G Beurskens; S Knuijt; G W A M Padberg; J M Statland; N C Voermans; T J J Maal; B G M van Engelen; K Mul Journal: J Neurol Date: 2020-10-28 Impact factor: 4.849