Key result
Among relatives carrying D4Z4 reduced alleles, 47.1% of second- through fifth-degree relatives were unaffected by motor impairment compared to 27.5% of first-degree relatives.
Observational (n=530)
The clinical expression of facioscapulohumeral muscular dystrophy is highly variable among relatives carrying D4Z4 reduced alleles, indicating that additional genetic or environmental factors influence disease penetrance.
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Higher unaffected rates in distant FSHD relatives indicate variable penetrance; leaves open roles of genetic or environmental modifiers.
Ricci et al. (2013) conducted an observational in Facioscapulohumeral muscular dystrophy (n=530). D4Z4 reduced alleles was evaluated on clinical expression of motor impairment. Among relatives carrying D4Z4 reduced alleles, 47.1% of second- through fifth-degree relatives were unaffected by motor impairment compared to 27.5% of first-degree relatives.
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