眼瞼咽頭型筋ジストロフィー

a genetic muscle disease causing weakness in the eyes and throat

a form of muscular dystrophy that usually begins between early adulthood and middle age and first affects muscles of the eyelid and throat; progresses slowly with swallowing problems common as the disease progresses; inheritance is autosomal dominant

通常、成人初期から中年期にかけて発症し、まずまぶたや喉の筋肉に影響を与える筋ジストロフィーの一形態。病気の進行に伴い、飲み込むことが困難になるのが特徴。遺伝形態は常染色体優性。