Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features
Camptocormia represents a relatively frequent and distinct phenotypic variant of FSHD, particularly in older adults. Conversely, FSHD is a common cause of camptocormia due to axial myopathy. These findings expand the clinical spectrum of FSHD and underscore the importance of considering FSHD in the differential diagnosis of camptocormia, even in the absence of typical clinical signs of FSHD. Muscle imaging may assist in identifying FSHD-associated camptocormia.
Authors
- Patrick Vandeputte (ORCID: https://orcid.org/0000-0002-9425-9253)
- Marco Spinazzi (ORCID: https://orcid.org/0000-0003-0048-9558)
- Christophe Gillet (ORCID: https://orcid.org/0000-0001-9195-9484)
- Eleonora Torchia (ORCID: https://orcid.org/0000-0003-1965-6483)
- Giorgio Tasca (ORCID: https://orcid.org/0000-0003-0849-9144)
- Rafaëlle Bernard (ORCID: https://orcid.org/0009-0005-8004-5501)
- Christophe Verny (ORCID: https://orcid.org/0000-0003-2420-2806)
- Mauro Monforte
Institutions
- Università Cattolica del Sacro Cuore (IT)
- Inserm (FR)
- Agostino Gemelli University Polyclinic (IT)
- Centre Hospitalier Universitaire d'Angers (FR)
- NIHR Newcastle Biomedical Research Centre (GB)
- Hôpital de la Timone (FR)
- Université d'Angers (FR)
Publication Details
- Journal
- European Journal of Neurology
- Published
- 2025-10-01
- DOI
- https://doi.org/10.1111/ene.70332
- Citations
- 1
- Primary Topic
- Parkinson's Disease and Spinal Disorders
- Type
- article
- Field-Weighted Citation Impact
- 1.39
Funders
- Institut National de la Santé et de la Recherche Médicale