Figure 2.

Pathogenesis and therapeutic approach for OPMD. Several therapeutic strategies have been proposed based on the pathogenesis of OPMD, such as (1) knockdown of mutant PABPN1 and/or augmentation of wild-type PABPN1 using adeno-associated virus (AAV) vectors; (2) boosting muscle growth using myostatin inhibitor; (3) reduction and dispersal of intranuclear aggregates using cystamine, doxycycline, trehalose, guanabenz, and intrabodies; and (4) autologous myoblast transplantation combined with cricopharyngeal myotomy.