{"doi":"10.1002/mus.70007","title":"Hearing Loss, Retinal Abnormality, and Seizures in People With Facioscapulohumeral Muscular Dystrophy","abstract":"INTRODUCTION/AIMS: Few studies describing comorbidities in individuals with facioscapulohumeral muscular dystrophy (FSHD) are available. We used data from the Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet) to identify and describe the prevalence of three comorbidities-hearing loss, retinal abnormalities, and seizures-in individuals with FSHD. METHODS: We analyzed retrospective population-based data from 548 individuals diagnosed with FSHD who had at least one health visit during 2008-2019. The primary variables of interest were the presence of one or more of the three comorbidities and the age at diagnosis of the comorbidity. We calculated percentages of each comorbidity by population characteristics. RESULTS: Among the study cohort, 17.2% (n = 94) had at least one comorbidity, with 1.5% (n = 8) having multiple comorbidities. Hearing loss (13%; n = 71) was the most frequently reported comorbidity, followed by retinal abnormalities (3.6%; n = 20) and seizures (2.0%; n = 11). Median age at diagnosis for hearing loss, retinal abnormalities, and seizures was 46.5 [interquartile range (IQR):11.8-65.3 years], 58.7 (IQR: 41.5-66.5 years), and 16.5 years (IQR: 3.0-34.7 years), respectively. DISCUSSION: 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.","journal":"Muscle & Nerve","year":2025,"id":520028,"datarank":0.29188652235829704,"base_score":1.9459101490553132,"endowment":1.9459101490553132,"self_citation_contribution":0.29188652235829704,"citation_network_contribution":0.0,"self_endowment_contribution":0.29188652235829704,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":6,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":0.595,"is_data_producer":false,"deposit_databanks":null,"is_oa":true,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":"2025-01-01","fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":516357,"name":"Shiny Thomas","orcid":"0000-0003-3099-4520","position":1,"is_corresponding":false},{"id":1389027,"name":"Anne Lyon Havlik","orcid":"0009-0001-6294-9591","position":2,"is_corresponding":false},{"id":435495,"name":"Katherine D. Mathews","orcid":"0000-0003-4160-0435","position":3,"is_corresponding":false},{"id":401680,"name":"Natalie Street","orcid":"0000-0003-4156-4286","position":4,"is_corresponding":false},{"id":716406,"name":"Aida Soim","orcid":"0000-0001-7687-751X","position":5,"is_corresponding":false},{"id":1389026,"name":"Shannon Kilburn","orcid":"0009-0001-9332-9440","position":0,"is_corresponding":true}],"reference_count":20,"raw_metadata":{"citation_network_status":"fetched"},"created_at":"2026-07-19T02:49:23.618703Z","pmid":"40879179","pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}