Article Dans Une Revue Orphanet Journal of Rare Diseases Année : 2025

Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry

1 CHU Nice - Centre Hospitalier Universitaire de Nice
2 UniCA - Université Côte d'Azur
3 AFM-Téléthon - Association française contre les myopathies
4 Genomnis SAS, Marseille
5 TIMONE - Hôpital de la Timone [CHU - APHM]
6 Hôpital Cochin [AP-HP]
7 CHU Rouen
8 Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL]
9 VIEFRA - EA 3797 - Vieillissement, Fragilité
10 CHU Reims - Hôpital universitaire Robert Debré [Reims]
11 CHU Strasbourg - Centre Hospitalier Universitaire [Strasbourg]
12 CHU Sud Saint Pierre [Ile de la Réunion]
13 CHU Toulouse - Centre Hospitalier Universitaire de Toulouse
14 Hôpital Gui de Chauliac [CHU Montpellier]
15 CHU ST-E - Centre Hospitalier Universitaire de Saint-Etienne [CHU Saint-Etienne]
16 Centre Esquirol [CHU Caen]
17 CHU Limoges
18 CHU Dijon - Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand
19 Hôpital Raymond Poincaré (Garches) [GHU AP-HP Université Paris-Saclay]
20 CHU Nantes - Centre Hospitalier Universitaire de Nantes = Nantes University Hospital
21 CHRU Nancy - Centre Hospitalier Régional Universitaire de Nancy
22 CHRU Brest - Centre Hospitalier Régional Universitaire de Brest
23 Hôpital Pellegrin
24 CHU Angers - Centre Hospitalier Universitaire d'Angers
25 CHU Pitié-Salpêtrière [AP-HP]
26 SU - Sorbonne Université
27 Institut de Myologie
28 LilNCog - Lille Neurosciences & Cognition - U 1172
29 CHRU Lille - Centre Hospitalier Régional Universitaire [CHU Lille]
30 C2VN - Centre recherche en CardioVasculaire et Nutrition = Center for CardioVascular and Nutrition research
31 IRCAN - Institut de Recherche sur le Cancer et le Vieillissement
Elisa de la Cruz
  • Fonction : Auteur
  • PersonId : 1499500
  • IdHAL : e-delacruz
Maxime Fournier
Karima Ghorab
  • Fonction : Auteur
  • PersonId : 1094595

Résumé

Background: Facioscapulohumeral muscular dystrophy (FSHD) is characterized by a typical pattern of muscle involvement, yet it encompasses a wide spectrum of phenotypes, including less common features that remain incompletely defined in the literature. While previous studies have highlighted this clinical variability, no consensus has been reached on how to classify uncommon manifestations, nor have specific predictors been identified. This study aims to describe these uncommon features and explore potential predictors, utilizing data from the French FSHD registry. To this end, we analysed data from 306 FSHD1 patients across nine French neuromuscular referral centres. Descriptive statistics, univariate analyses, and multiple logistic regression models were employed to examine uncommon characteristics and their predictors. Results: Uncommon features were observed in 19.6% of cases. The most common was a discrepancy between disease severity and D4Z4 repeat unit (RU) count (41.7%), followed by predominant impairment at proximal lower limb or distal upper limb muscles (21.7%). Three unanticipated features emerged: isolated or predominant axial impairment, anosmia and atopic dermatitis. Univariate analysis revealed that uncommon features were associated with higher RU count (6.5 ± 2.1 vs. 5.8 ± 1.8 in typical patients) and older age of onset (32.0 ± 18.8 years vs. 25.0 ± 15.4 years). Such features were more prevalent in the borderline 8-10 RU range, an association confirmed by multivariate analysis (OR = 2.43, 95% CI 1.21 to 4.87). Later age of onset consistently emerged as a factor across multiple multivariate models. Conclusions: This study documents uncommon FSHD features, revealing their association with the 8-10 RU range and later age of onset. These findings further support a complex interplay among genetic and epigenetic modifiers and ageing in shaping the clinical phenotype of FSHD, especially in patients carrying borderline D4Z4 arrays. Differential phenotypes, particularly in relation to RU range and age of onset, points to the importance of harmonized, comprehensive clinical and genetic assessments. Recognizing uncommon features may improve diagnostic accuracy and guide individualized management strategies, highlighting the need for tailored approaches to patient care.

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hal-05252178 , version 1 (10-03-2026)

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Benoît Sanson, Abderhmane Slioui, Jérémy Garcia, Lori Klouvi, Julie Lejeune, et al.. Prevalence and predictors of uncommon features in FSHD1 patients: insights from the French FSHD registry. Orphanet Journal of Rare Diseases, 2025, 20 (1), pp.470. ⟨10.1186/s13023-025-03877-z⟩. ⟨hal-05252178⟩
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