Orthopedic Management of Patients with Pompe Disease: A Retrospective Case Series of 8 Patients

Table 1

Patient details.

Pat.	Sex	Age^1 (years)	Height/; weight^1 (cm/kg)	Follow-up^2	PD type	Age of PD diagnosis (years)	Age of ERT beginning (years)	Respiratory involvement/vital capacity	Ventilatory support (time/day)	Movement support
1	F	59	170/58	—	Adult LOPD	51	No	No	—	Crutches
2	M	50	167/57	14 months	Adult LOPD	44	Planned	Yes/IVC 48%	—	Crutches
3	M	36	186/60	11 years	Juvenile LOPD	13	32	Yes/IVC 40%	—	—
4	M	16	176/30	3 years	Childhood LOPD	2	No	Yes/IVC 37%	NIV (16 h)	AWC, PWC
5	M	12	140/18	19 months	Muscular IOPD	1^3	6	Yes/IVC 30%	NIV (night)	PWC
6	M	3	155/33	12 years	Muscular IOPD	1^3	10	Yes/IVC 32%	—	AWC, PWC
7	M	5	144/30	6 years	Muscular IOPD	1^3	3	Yes	TrS (24 h)	PWC
8	M	4	166/15	—	Childhood LOPD	4	4	No	—	—

Pat.: patient, F: female, M: male, NIV: noninvasive ventilation, TrS: tracheostoma, PWC: powered wheelchair, and AWC: active wheelchair.
¹Age, height, and weight at first presentation in our neuromuscular disease center. ²Time period of continuous control investigations during our consultations. ³Within first year of life.