Fig. 1.

Early-onset musculoskeletal phenotype in children LOPD.

A) Age 2 years, 6 months.

Scapular winging and Lower rib flaring.

B) Age 3 years, 4 months, on ERT 20 mg/kg.

Anterior pelvic tilt with excessive hip flexion.

Spinal hyperextension and asymmetry.

Scapular winging.

Increased width of base of support.

Lateral trunk lean during stance phase of gait.

Decreased ankle dorsiflexion during swing phase of gait.

Enlarged calves.

Lower rib flaring.

Neck flexor weakness.

C) Age 5 years 4 months (on ERT 40 mg/kg):

Continued lateral & posterior trunk lean during stance phase of gait.

D) Age 8 years old.

Gowers maneuver required to achieve standing: cannot achieve standing without 1 hand on knee and 1 hand on floor.

Attempting to lift head to do sit-up but cannot lift head.

Attempting to lift head but cannot use antigravity neck flexion to lift head.

Persistent neck flexor weakness.