Key result
Integrated structural, epigenetic, and exome evaluation confirms FSHD in ~90% of suspected referrals.
Why the study?
Diagnosing facioscapulohumeral muscular dystrophy requires integrated evaluation of D4Z4 repeat size, permissive haplotype status, epigenetic context, and alternative molecular aetiologies, especially in borderline, non-contracted, or structurally complex cases.
Does integrated structural, epigenetic, and exome-based evaluation improve diagnostic yield in patients with suspected facioscapulohumeral muscular dystrophy?
Cohort (n=135)
No
Does integrated structural, epigenetic, and exome-based evaluation improve diagnostic yield in patients with suspected facioscapulohumeral muscular dystrophy?
An integrated diagnostic approach combining structural, epigenetic, and sequencing methods successfully confirmed FSHD in nearly 90% of suspected cases in a Turkish referral cohort.
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High confirmation rate with integrated testing supports its use in suspected FSHD; extends validation of combined methods to new cohorts.
Avcı et al. (2026) conducted a cohort in Facioscapulohumeral muscular dystrophy (FSHD) (n=135). Integrated D4Z4 structural, epigenetic and exome-based evaluation was evaluated on Confirmation of FSHD diagnosis. Integrated structural, epigenetic, and exome-based evaluation confirmed facioscapulohumeral muscular dystrophy in 89.6% (121/135) of suspected referrals.
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