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J. Warman-Chardon

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Open access Oct 2026

Blood biomarkers identified with multi-omics combined with clinical and muscle imaging in oculopharyngeal muscular dystrophy

Oculopharyngeal muscular dystrophy (OPMD) is an adult-onset, slowly progressive muscular dystrophy characterized by dysphagia, eyelid ptosis, and proximal limb weakness. Clinical trial readiness in OPMD requires development of sensitive indicators of disease progression and potential response to therapies in de...

I. Smith, Matthew Triolo, Karim Karimi et al. · 0 citations
Review Open access Sep 2026

Cramps as the initial presentation of CANVAS/RFC1-related disorder

Biallelic mutations in the RFC1 gene are associated with CANVAS syndrome (cerebellar ataxia, neuropathy and vestibular areflexia). Peripheral nerve involvement in the form of sensory neuronopathy and small fiber autonomic axonopathy is a core feature of its presentation. Motor manifestations, in the other hand, remain...

J. Machado, Jocelyn C. Zwicker, P. Bourque et al. · 0 citations
Review Aug 2026

Recent progress in emerging therapeutics and evaluation of oculopharyngeal muscular dystrophy.

PURPOSE OF REVIEW Oculopharyngeal muscular dystrophy (OPMD) is a late-onset, genetic, neuromuscular disorder causing progressive ptosis, dysphagia and proximal muscle weakness. This review highlights emerging therapeutic strategies and recent advances in understanding the clinical phenotypes, genetic mechanisms and pat...

Fien Oelbrandt, N. Voermans, J. Warman-Chardon · 1 citation

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