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Article

Camptocormia as a Phenotypic Variant of FSHD in the Elderly: Clinical, Genetic, and Imaging Features.

European journal of neurology - 1 Oct 2025

Torchia Eleonora, Vandeputte Patrick, Monforte Mauro, Gillet Charlène, Verny Christophe, Bernard Rafaelle, Tasca Giorgio, Spinazzi Marco

Abstract excerpt

BACKGROUND AND OBJECTIVES: Camptocormia, a pathological forward flexion of the spine, is a relatively common but often unexplained postural abnormality. Facioscapulohumeral muscular dystrophy (FSHD), one of the most prevalent adult myopathies, is caused by a contraction of D4Z4 repeats on chromosome 4 and typically presents with facial, scapular, and lower limb weakness. However, atypical phenotypes are...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 41037427
DOI: 10.1111/ene.70332
PMCID: PMC12490655

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