Consequently, OPDM is now distinguished by its genetic cause with oculopharyngodistal myopathy type 1 (OPDM1) caused by a CGG repeat expansion in LRP12, OPDM type 2 is caused by a CGG expansion in GIPC1, OPDM3/NIID1 is caused by a CGG expansion in NOTCH2NLC and OPDM4 is potentially associated with a CGG expansion in RILPL1. The gene discussed is RILPL1; the disease is oculopharyngodistal myopathy 1.