Ptosis as a feature of late-onset glycogenosis type II

Abstract

Groen et al.1 describe unilateral myogenic ptosis in 4/12 (33%) adults with type II glycogenosis. Ptosis was the presenting symptom in three out of four patients suggesting that it may help in the early diagnosis of the disease. We describe a woman with genetically defined type II glycogenosis in whom ptosis preceded by 2 years the development of skeletal muscle weakness. Our patient developed unilateral ptosis at 46 years of age, when the only muscle symptom was abnormal fatigability during stair climbing. At 48, she began to complain of walking difficulties. Neurologic examination showed proximal lower limb muscle weakness (4/5 on MRC score), unilateral ptosis, and raised CK levels (220 U/L, normal 24 …