. Author manuscript; available in PMC: 2015 Aug 1.

Published in final edited form as: Neurol Clin. 2014 Aug;32(3):751–ix. doi: 10.1016/j.ncl.2014.04.010

Table 1.

Symptoms characteristics in patients with infantile and late onset Pompe disease.

Patient	Family history	Sex	Manifestation sequence						Presentation		Age		Time from 1st symptom-Dx
Patient	Family history	Sex	Age (yr)	1^st	Age (yr)	2^nd	Age (yr)	3^rd	Sign / Symptom	Age (yr)	At diagnosis (yr)	At last visit (yr)	Time from 1st symptom-Dx
1	yes (brother)	F	0	PD	0	RD	0	MG	PD	0	PD	2	0
2	yes (sister)	M	5/12	SOB	6/12	MY	2	DW	RF	5	7	12	2
3	no	M	2/12	GW	4/12	CM	4/12	MG	GW	4/12	4/12	8.5	2/12
4	no	F	10	My	12	LBP	16	LW	Myalgia	10	19	22	9
5	Yes (brother)	M	15	AW	17	Fatigue	-	-	AW	19	19	20	5
6	yes (brother)	M	15	AW	17	My	17	Fatigue	AW	19	19	25	4
7	no	F	9	LGW	16	My	21	Fatigue	LGW	23	21	26	12
8	no	M	2	LW	4	My	4	LGW	LGW	6	6	34	4
9	yes (sister)	M	38	Weight loss	39	SOB	40	LGW	LGW	40	40	41	2
10	yes (sister)	F	37	My	38	LGW	39	SOB	LGW	40	40	50	3
11	yes (sister)	F	36	LBP	38	LGW	38	SOB	LGW	40	38	53	2
12	Yes (sister)	M	10	LW	30	abn LFT	32	AMW^*	AMW	32	32	52	22

Abbreviations: AMW axial muscle weakness, AW arm weakness, CM cardiomyopathy, DW delayed walking, F female, GW generalized weakness, LBP low back pain, LFT liver function test, LGW limb girdle weakness, LW leg weakness, M male, MG macroglossia, MY myalgia, PD prenatal diagnosis, RD respiratory distress, RF respiratory failure, SOB shortness of breath,

with scoliosis.