Hearing Loss, Retinal Abnormality, and Seizures in People With Facioscapulohumeral Muscular Dystrophy
This study demonstrated that a substantial minority of the study cohort had hearing loss, while fewer had retinal abnormalities and seizures. Age at diagnosis varied widely; hearing loss and retinal disease tended to occur in adults, while for seizures, half were ≤ 10 years old. Our results on the prevalence of comorbid conditions among individuals living with FSHD help provide a better understanding of disease burden and support recommendations for ophthalmological and hearing screenings.
Authors
- Aida Soim (ORCID: https://orcid.org/0000-0001-7687-751X)
- Shannon Kilburn (ORCID: https://orcid.org/0009-0001-9332-9440)
- Katherine D. Mathews (ORCID: https://orcid.org/0000-0003-4160-0435)
- Natalie Street (ORCID: https://orcid.org/0000-0003-4156-4286)
- Shiny Thomas (ORCID: https://orcid.org/0000-0003-3099-4520)
- Anne Lyon Havlik (ORCID: https://orcid.org/0009-0001-6294-9591)
Institutions
- University of Iowa (US)
- Oak Ridge Associated Universities (US)
- Centers for Disease Control and Prevention (US)
- New York State Department of Health (US)
- National Center on Birth Defects and Developmental Disabilities (US)
- Oak Ridge Institute for Science and Education
Publication Details
- Journal
- Muscle & Nerve
- Published
- 2025-08-20
- DOI
- https://doi.org/10.1002/mus.70007
- Citations
- 5
- Primary Topic
- Muscle Physiology and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 4.03
Funders
- Centers for Disease Control and Prevention
- National Cancer Institute