Diagnostic Approach to Ptosis

In this video, I discuss a diagnostic approach to genetic causes of ptosis, a disorder caused by dysfunction of the eyelid. The eyelid is controlled by a single muscle, and that muscle is controlled by a nerve. Dysfunction of this muscle, the nerve that innervates it, or of the junction between the nerve and muscle (neuromuscular junction) can lead to ptosis. Most genetic causes of ptosis affect either the muscle or the neuromuscular junction. The genetic disorders discussed in this video that present with ptosis (among other symptoms) include: Oculopharyngeal muscular dystrophy (OPMD) (https://www.ncbi.nlm.nih.gov/books/NB...) Chronic progressive ophthalmoplegia (CPEO) (https://www.ncbi.nlm.nih.gov/books/NB...) Myotonic dystrophy, type 1 (https://www.ncbi.nlm.nih.gov/books/NB...) Congenital myasthenic syndromes (https://www.ncbi.nlm.nih.gov/books/NB...) Blepharophimosis, ptosis, and epicanthus inversus (BPES) (https://www.ncbi.nlm.nih.gov/books/NB...) Newsletter post with 2 board-style questions on this topic: https://studyrare.substack.com/p/2023... This video includes high-yield tips on how to remember and differentiate these disorders on board exams and also in the clinic. Please consider supporting my rare disease education efforts by subscribing to the StudyRare newsletter, where I share board-style questions for ABMGG and ABGC exams each week: https://studyrare.substack.com/ You can also support this channel by subscribing to this YouTube channel, following me on Twitter/X (@studyrare) and LinkedIn (  / studyrare  , or buying me a coffee: https://ko-fi.com/studyrare Thank you! Daniel