Key result
Familial factors explained 50% of FSHD1 severity variance, while D4Z4 repeat size explained ~10%; unaffected carriers had longer repeat sizes than symptomatic individuals (7.3 vs 6.0 units, P=0.000).
Observational (n=152)
Familial factors and D4Z4 repeat array size contribute to disease severity in FSHD1, but other modifying factors are likely involved.
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Familial factors warrant inclusion in FSHD1 prognosis beyond repeat size; cross-sectional data leaves open other modifiers for prospective study.
Mul et al. (2018) conducted an observational in facioscapulohumeral muscular dystrophy type 1 (FSHD1) (n=152). D4Z4 repeat array size, D4Z4 methylation, and familial factors was evaluated on Variance in disease severity (FSHD clinical score). Familial factors explained 50% of FSHD1 severity variance, while D4Z4 repeat size explained ~10%; unaffected carriers had longer repeat sizes than symptomatic individuals (7.3 vs 6.0 units, P=0.000).
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