Flow chart showing derivation of study sample.
Abbreviations: FH = family history
aThese individuals had a positive family history of OPMD, normal neuromuscular examination, and negative genetic test for OPMD
bNone of these individuals had a positive family history of OPMD, and 7 of the 8 cases had a negative genetic test for OPMD. Three individuals were diagnosed with seronegative myasthenia gravis, 2 had severe external ophthalmoplegia before age 60 y, and 3 individuals had onset of ptosis and/or dysphagia before age 30 y.
cSix of the 10 individuals had a positive family history of OPMD, but did not meet full diagnostic criteria because they had only one cardinal symptom (ptosis or dysphagia, but not both).
dThis individual lost independent ambulation in youth secondary to trauma.
eThirty of these individuals were related to someone with a positive genetic test
fThese individuals had either a biological parent whose medical history was unknown or a parent who died before the age of 50 y.