Respiratory Function and Evaluation in Individuals With Facioscapulohumeral Muscular Dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network.

Details

• Alternative Title:
  Neuromuscular Disorders: NMD, 2025, v. 46: Respiratory Function and Evaluation in Individuals With Facioscapulohumeral Muscular Dystrophy in the Muscular Dystrophy Surveillance, Tracking and Research Network.
• Journal Article:
  Neuromuscular Disorders: NMD
• Personal Author:
  Mathews, Katherine D ; Suhl, Jonathan ; Conway, Kristin M ; Moore, Amy ; Alese, Joyce T. ; Butterfield, Russell J ; Romitti, Paul A
• Corporate Authors:
  Muscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)
• Description:
  Using data from the US population-based, multisite Muscular Dystrophy Surveillance, Tracking, and Research Network (MD STARnet), we describe respiratory testing and insufficiency among people with facioscapulohumeral muscular dystrophy (FSHD) diagnosed during 2008-2016. We calculated frequencies and proportions for selected outpatient respiratory assessments (pulmonary function tests PFTs, forced vital capacity (FVC), inspiratory/expiratory pressure, and polysomnograms) and abnormal test results. We examined frequencies by disease characteristics (FSHD type, ages of onset, non-ambulatory status, scoliosis, lordosis), obesity, and number of health encounters. Of 170 people with FSHD, 20.0% underwent PFTs during 2008-2016. Polysomnograms were infrequent (14.1%). FVC <80% predicted was recorded for 64.7% of people tested; additional respiratory outcomes were rare (<5%). Frequency of evaluations and respiratory insufficiency were higher among those with known risk factors and longer follow-up. We observed low proportions of respiratory testing among all confirmed cases of FSHD, but relatively high proportions of mild respiratory insufficiency among those tested. The higher proportions of testing among people with conditions that increase risk of respiratory complications suggest targeted monitoring. Broad implementation of the FSHD guidelines recommending all individuals receive baseline respiratory evaluation at diagnosis could identify respiratory insufficiency as a complication of FSHD.
• Content Notes:
  Author manuscript
• Subjects:
  • Humans
  • Muscular Dystrophy, Facioscapulohumeral
  • Male
  • Female
  • Respiratory Function Tests
  • Adult
  • Middle Aged
  • Adolescent
  • Young Adult
  • Aged
  More +
• Keywords:
  • Muscular dystrophy
  • Facioscapulohumeral respiratory insufficiency
  • Guidelines
  • Surveillance
• Source:
  Neuromuscular Disorders: NMD, 2025, v. 46
• DOI:
  https://doi.org/10.1016/j.nmd.2024.105240
• ISSN:
  0960-8966 ; 1873-2364
• Pubmed ID:
  39579597
• Pubmed Central ID:
  PMC11911087
• Document Type:
  Text
• Funding:
  U01 DD001123/DD/NCBDD CDC HHSUnited States/ ; U54 NS053672/NS/NINDS NIH HHSUnited States/ ; U01 DD001116/DD/NCBDD CDC HHSUnited States/ ; U01 DD001247/DD/NCBDD CDC HHSUnited States/ ; U01 DD001119/DD/NCBDD CDC HHSUnited States/ ; U01 DD001248/DD/NCBDD CDC HHSUnited States/ ; CC999999/ImCDC/Intramural CDC HHSUnited States/ ; U01 DD001117/DD/NCBDD CDC HHSUnited States/ ; U01 DD001126/DD/NCBDD CDC HHSUnited States/ ; U24 NS107181/NS/NINDS NIH HHSUnited States/ ; U01 DD001253/DD/NCBDD CDC HHSUnited States/
• Genre:
  Journal Article
• Place as Subject:
  United States
• Pages in Document:
  105240 (13 pdf pages)
• Volume:
  46
• Download URL:
  https://stacks.cdc.gov/view/cdc/261907/cdc_261907_DS1.pdf
• File Type:
  [PDF - 349.63 KB]
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha-512:0af7ca491356b378f0705fffd246f4242d3d4d88f65a52d086c69983067803f89e4340692a2efecfd76e220693746509787581e1e19f1473dcd71e150f57d962