Hearing Loss, Retinal Abnormality, and Seizures in People With Facioscapulohumeral Muscular Dystrophy.

Details

• Alternative Title:
  Muscle & Nerve, 2025, v. 72, no. 5: Hearing Loss, Retinal Abnormality, and Seizures in People With Facioscapulohumeral Muscular Dystrophy.
• Journal Article:
  Muscle & Nerve
• Personal Author:
  Kilburn, Shannon N. ; Thomas, Shiny ; Havlik, Anne L. ; Mathews, Katherine D. ; Street, Natalie ; Soim, Aida
• Description:
  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.
  
  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.
  
  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.
  
  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.
• Content Notes:
  Author manuscript
• Subjects:
  • Humans
  • Muscular Dystrophy, Facioscapulohumeral
  • Male
  • Female
  • Middle Aged
  • Hearing Loss
  • Adult
  • Seizures
  • Retrospective Studies
  • Aged
  More +
• Keywords:
  • comorbidity
  • facioscapulohumeral muscular dystrophy
  • hearing loss
  • retinal abnormality
  • seizure
• Source:
  Muscle & Nerve, 2025, v. 72, no. 5
• DOI:
  https://doi.org/10.1002/mus.70007
• ISSN:
  0148-639X ; 1097-4598
• Pubmed ID:
  40879179
• Pubmed Central ID:
  PMC12927615
• Document Type:
  Text
• Funding:
  DD001251/CC/CDC HHSUnited States/ ; DD001243/CC/CDC HHSUnited States/ ; DD001246/CC/CDC HHSUnited States/ ; U01 DD001245/DD/NCBDD CDC HHSUnited States/ ; U01 DD001253/DD/NCBDD CDC HHSUnited States/ ; DD001245/CC/CDC HHSUnited States/ ; P50 NS053672/NS/NINDS NIH HHSUnited States/ ; DD001252/CC/CDC HHSUnited States/ ; DD001249/CC/CDC HHSUnited States/ ; U01 DD001248/DD/NCBDD CDC HHSUnited States/ ; DD001253/CC/CDC HHSUnited States/ ; DD001244/CC/CDC HHSUnited States/ ; DD001248/CC/CDC HHSUnited States/ ; DD001254/CC/CDC HHSUnited States/ ; DD001250/CC/CDC HHSUnited States/ ; U01 DD001246/DD/NCBDD CDC HHSUnited States/ ; DD001255/CC/CDC HHSUnited States/ ; U01 DD001242/DD/NCBDD CDC HHSUnited States/ ; U01 DD001247/DD/NCBDD CDC HHSUnited States/ ; P30 CA2014/CA/NCI NIH HHSUnited States/ ; U01 DD001249/DD/NCBDD CDC HHSUnited States/ ; U01 DD001251/DD/NCBDD CDC HHSUnited States/ ; U01 DD001254/DD/NCBDD CDC HHSUnited States/ ; U01 DD001243/DD/NCBDD CDC HHSUnited States/ ; DD001242/CC/CDC HHSUnited States/ ; CC999999/ImCDC/Intramural CDC HHSUnited States/ ; U01 DD001250/DD/NCBDD CDC HHSUnited States/ ; U01 DD001255/DD/NCBDD CDC HHSUnited States/ ; DD1247/CC/CDC HHSUnited States/ ; U01 DD001244/DD/NCBDD CDC HHSUnited States/ ; U01 DD001252/DD/NCBDD CDC HHSUnited States/
• Genre:
  Journal Article
• Pages in Document:
  1156-1160 (10 pdf pages)
• Volume:
  72
• Issue:
  5
• Download URL:
  https://stacks.cdc.gov/view/cdc/261134/cdc_261134_DS1.pdf
• File Type:
  [PDF - 149.03 KB]
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha-512:25685e965a64c91271f8616c4b09d60b1caa903897c80d9fbd468e4475b41e446d8640fbbac5711000942c48a39d794f5e2dafa5ca105828048caa5d018bb2a0