Table 1. Summary of Pompe disease clinical reports citing smooth muscle pathology.

Smooth muscle location	Findings	Clinical correlate	Frequency of symptoms	References
Aorta	Glycogen deposition in the media of aorta with large ascending aneurysm	Cerebrovascular events, Aneurysms, Dilative arteriopathy	>20 patients	(11, 88, 89, 92)
Coronary artery	Glycogen deposition			(11)
Carotid artery	Glycogen deposition			(56, 65, 87)
Arteries and veins	Glycogen deposition in smooth muscle cells only Sparing other cell types			(11, 14, 65, 74,75,76,78, 79, 82, 88, 89, 91,92,93,94,95, 105, 118)
Eye	Glycogen accumulation in the iris sphincter muscle and ciliary body	Strabismus, Ptosis, Myopia	>10 patients	(65, 108, 119)
GI tract	Glycogen deposition in the tunica muscularis and muscularis mucosa of the GI tract, as well as esophagus and stomach	Nausea, vomiting, Diarrhea, Abdominal pain, Dysphagia	>5 patients	(11, 54, 65, 96,105, 118)
Genitourinary	Glycogen deposition in the muscularis propria of the bladder	Urinary incontinence	>5 patients	(11, 65, 67, 96,102, 105, 107)
Arrector Pili	Glycogenosomes and autophagic vacuoles	Not described	>5 patients	(109)
Airway	Glycogen deposition in the trachea, bronchi and bronchioles, Reduced bronchoconstriction, Impaired calcium signaling in smooth muscle cells	Band-like atelectasis, Bronchomalacia, Tracheomalacia	<5 patients	(36, 49, 113)
Uterus	Glycogen deposition	Not described	Only in mice	(67)
Spleen	Glycogen deposition in the capsule and trabeculae	Not described	Only in mice	(67)