Journal article
Facioscapulohumeral muscular dystrophy diagnosed in childhood: a muscular dystrophy surveillance, tracking and research network cohort
Neuromuscular disorders : NMD, Vol.60, 106334
03/2026
DOI: 10.1016/j.nmd.2026.106334
PMID: 41548516
Abstract
•15 % of the MD STARnet cohort were diagnosed with FSHD before age 19 years.•Diagnosis was made across a continuous spectrum of ages.•31 % met the classical clinical criteria for early onset disease.•Most children were ambulatory; 6.5 % used a wheelchair full-time by age 19 years.•Among those with FSHD1, 45.8 % had 1–3 D4Z4 repeats.•Among those with 1–3 D4Z4 repeats, 39 % had hearing loss.•Other co-morbidities were rare.
Reports of clinical characteristics of FSHD in childhood have often focused on the most severely affected. To include children in clinical trials, it is important to understand the full pediatric spectrum. The Muscular Dystrophy Surveillance, Tracking, and Research Network provides a population-based, cross-sectional cohort of children diagnosed with FSHD. Children diagnosed before 19 years of age during 2008–2019 were included (n = 93). Clinical characteristics abstracted from the medical record included motor symptoms, genetic test results, and family history. Of those with known FSHD type (n = 73 of 93, 78.8 %), 72 (98.6 %) had FSHD1. Among those with FSHD1, the most frequent D4Z4 repeat category was 1–3 repeats (n = 33, 45.8 %) and few had 7–10 repeats (n = 7, 9.7 %). Among those with FSHD1 and known symptom onset age (n = 70), 22 (31.4 %) had early onset disease. Overall, most (88.2 %) were ambulatory at last visit. The number of children diagnosed increased steadily across childhood, suggesting a continuous spectrum of age at onset. The most common co-morbidity was hearing loss (n = 19 of 93, 20.4 %); most commonly among children with FSHD1 and 1–3 D4Z4 repeats (n = 13 of 33, 39.4 %). Our series provides data to support the design of pediatric FSHD trials, critical to ensure timely access to future effective treatments.
Details
- Title: Subtitle
- Facioscapulohumeral muscular dystrophy diagnosed in childhood: a muscular dystrophy surveillance, tracking and research network cohort
- Creators
- Tahereh Neyaz - University of IowaKristin M Conway - University of IowaYining Yang - New York State Department of Health, Albany, NY, USARussell J Butterfield - University of UtahSwamy Venkatesh - University of South CarolinaPaul A Romitti - University of IowaKatherine D Mathews - University of IowaMuscular Dystrophy Surveillance, Tracking and Research Network (MD STARnet)
- Resource Type
- Journal article
- Publication Details
- Neuromuscular disorders : NMD, Vol.60, 106334
- DOI
- 10.1016/j.nmd.2026.106334
- PMID
- 41548516
- NLM abbreviation
- Neuromuscul Disord
- ISSN
- 0960-8966
- eISSN
- 1873-2364
- Publisher
- Elsevier B.V
- Grant note
- Centers for Disease Control and Prevention: DD001126, DD001119, DD001123, DD001116, DD001117, DD001108, DD001120, DD001054, DD001242, DD001243, DD001245, DD001248, DD001249, DD001252, DD001255, DD001254, DD001251 National Cancer Institute
Data collection for this publication was supported by the Cooperative Agreement numbers: DD001126, DD001119, DD001123, DD001116, DD001117, DD001108, DD001120, and DD001054 (2014-2019) and DD001242, DD001243, DD001245, DD001248, DD001249, DD001252, DD001255, DD001254, and DD001251 (2019-2024) funded by the Centers for Disease Control and Prevention. Analyses and writing were supported by Cooperative Agreement numbers: DD000052, DD000051, DD000049, DD000050. The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the Centers for Disease Control and Prevention. Partial support for all datasets within the Utah Population Database was provided by the University of Utah Huntsman Cancer Institute and the Huntsman Cancer Institute Cancer Center Support grant, P30 CA2014 from the National Cancer Institute. The findings and conclusions in this report are those of the author(s) and do not necessarily represent the views of the North Carolina Department of Health and Human Services, Division of Public Health.
- Language
- English
- Date published
- 03/2026
- Academic Unit
- Neurology; Stead Family Department of Pediatrics; Epidemiology; Iowa Neuroscience Institute; Biostatistics; Neurology (Pediatrics)
- Record Identifier
- 9985121597902771
Metrics
6 Record Views