Table 6.

Selected published studies on early-onset LOPD.

Study	Patients	c.-32–13 T > G variant an d another pathogenic variant	Mean age at symptom onset	First symptoms	Age at diagnosis (years)	Follow-up period	Selected motor, respiratory outcomes on ERT
Bembi et al., 2010	N=24 (7 juveniles, 17 adults)	No genotype data reported on any patient	2.5 (±1.3) years	not described	2.8 (±1.4)	36 months	Improved 6MWT and stabilization of FEV1
Deroma et al., 2014	N=8	Present in 7 patients	6 months – 9 years	↑CK, walking abnormalities, difficulty in climbing stairs (presented as grouped data)	1 year to 9 years, 7 months	At least 72 months	Improved 6MWT and FVC
Van Capelle et al., 2016	N=31	Present in 21 patients	2.6 years (0.5–13 years)	Motor delay, limb-girdle muscle weakness, diarrhea, fatigue	4.0	—(Cross-sectional study)	Over 50% had weakness of neck flexors, hip extensor and flexors and shoulder abductors, scoliosis, myopathic facies, low-absent reflexes.