Table 1.

Clinical characteristic from ten adult patients with Pompe disease

Patient	P1	P2	P3	P4a, b	P5	P6	P7	P8b	P9a*,b	P10a*
Age (years)	21	37	44	44	46	47	54	56	64	71
Sex	F	F	M	M	M	F	M	F	M	F
Duration of disease (years)	10	10	4	12	10	12	9	16	11	30
Duration of ERT (months)	3	33	41	54	0	33	48	0	14	47
GAA genotype	IVS1-13T>G	p.Leu552Pro	IVS1-13T>G	IVS1-13T>G	p.Pro493Leu	IVS1-13T>G	IVS1-13T>G	p.Pro493Leu	IVS1-13T>G	IVS1-13T>G
	IVS9-1G>C	p.Pro493Leu	c.2136-7delGT	p.Trp499Arg	p.Cys103Gly	p.Leu552Pro	p.Cys103Gly	p.Cys103Gly	p.Gly309Arg	c.2481+102_2646+31del
6-minute walk test [m]	510	295	380	130	420	375	380	420	120	60
WGMS	3	3	5	6	4	6	5	3	5	6
Slow vital capacity (%)	60	110	38, NVS	53	94	65	50, NVS	91	40	83
Cardiovascular risk factors		HL, O	HT, HL	DM, HL		HT, DM, HL, O, S	HT, DM, HL, O	HT	HT, DM, O, CHD	HT

^aPatient with dilative arteriopathy (* and vertebrobasilar dolichoectasia)

^bPatient with punctate white matter lesions

CHD coronary heart disease, DM diabetes mellitus, ERT enzyme replacement therapy, F female, HT arterial hypertension, HL hyperlipidaemia, M male, NVS noninvasive ventilation support, O obesity, S smoking, WGMS Walton Gardner Medwin scale