Facioscapulohumeral muscular dystrophy diagnosed in childhood: a muscular dystrophy surveillance, tracking and research network cohort
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View abstract on PubMed
Summary
This summary is machine-generated.This study characterizes pediatric facioscapulohumeral muscular dystrophy (FSHD) cases, revealing a continuous spectrum of disease onset and common comorbidities like hearing loss. Findings support designing pediatric FSHD clinical trials for timely treatment access.
Area Of Science
- Neurology
- Genetics
- Pediatrics
Background
- Clinical reports on pediatric facioscapulohumeral muscular dystrophy (FSHD) often overlook milder cases, hindering clinical trial inclusivity.
- Understanding the full pediatric spectrum of FSHD is crucial for developing targeted interventions and treatments for affected children.
Purpose Of The Study
- To characterize the clinical presentation and genetic landscape of a population-based cohort of children diagnosed with FSHD.
- To provide data essential for designing effective pediatric FSHD clinical trials.
Main Methods
- A cross-sectional cohort of 93 children diagnosed with FSHD before age 19 between 2008-2019 was analyzed.
- Data on motor symptoms, genetic results (FSHD1/FSHD2, D4Z4 repeat counts), family history, and comorbidities were abstracted from medical records.
Main Results
- FSHD type 1 (FSHD1) was predominant (98.6%). The most common D4Z4 repeat category in FSHD1 was 1-3 repeats (45.8%).
- Early onset disease (<19 years) occurred in 31.4% of FSHD1 patients with known onset age.
- Most children remained ambulatory (88.2%), and hearing loss was the most frequent comorbidity (20.4%), particularly in FSHD1 patients with 1-3 D4Z4 repeats.
Conclusions
- The study highlights a continuous spectrum of age at onset for pediatric FSHD, with increasing diagnoses across childhood.
- Findings underscore the importance of including diverse pediatric populations in clinical trials to ensure equitable access to future therapies.
- The data provides a foundation for optimizing the design and recruitment strategies for pediatric FSHD clinical trials.
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