Table 2.
Early symptoms and clinical parameters in neonates with Pompe disease with c.-32-13T>G GAA variant
| Patient | 1 | 2 | 3 | 4 | 5 | 6 | 7 |
|---|---|---|---|---|---|---|---|
| Presenting features | Within 1st week of life: Generalized hypotonia, delayed gross motor skills, bilateral scapular winging dysphagia, FTT | Since birth: Generalized hypotonia, delayed gross motor skills, dysphagia, positive family history | At age 5 months: Generalized hypotonia, delayed gross motor skills, regression in gross motor skills | Reported to be asymptomatic | Age 3 months: Regurgitation of feeds, especially when lying supine, self- limited gasping episodes | Reported to be asymptomatic | Reported to be asymptomatic |
| Standardized PT test (Age) | 7 months- AIMS: 10th to 25th percentile, GMFM: 23% | 3 months- AIMS: 10th to 25th percentile | 5 months- AIMS: 10th percentile; 6 months- AIMS: 3rd percentile, GMFM: 16% | 6 months - AIMS: 25th percentile, GMFM: 22% | 3 months chronological age & 2 months corrected age- AIMS: 10th percentile for chronological age & 25th to 50th percentile for corrected age | 6 months - AIMS: 1st percentile, GMFM: 12.3% | 6 months chronological age & 5 months corrected age- AIMS:1 0th to 25th percentile for chronological age &50th percentile for corrected age, GMFM: 16.55% |
| Hip extensor activity (balance between hip flexion & extension) | Decreased active hip extension in prone/sitting; sitting briefly (seconds) with/without support | Decreased active hip extension in prone | Decreased active hip extension; increased use of hip flexors | Decreased active hip extension in prone and sitting | Decreased active hip extension in prone (decreased posterior weight shift in prone to allow prone propping) | Decreased active hip extension. Muscle imbalance with greater hip flexion than extension in all positions | Decreased active hip extension in prone (decreased posterior weight shift in prone to allow prone propping) |
| LE positioning in: Flexion/Abduct ion/Extern al Rotation | Yes | Yes | Yes with plantar flexion tendency | Yes | Yes – slight | Yes – in all positions | Tendency for abduction and external rotation |
| LE muscle tightness/hypo-extensibility | IT band tightness bilaterally | Hip flexor and IT band tightness bilaterally | Hip flexor and IT band tightness bilaterally; plantar flexor hypo-extensibility bilaterally | IT band tightness bilaterally | IT band tightness – lateral thigh groove | Hip flexor hypo extensibility/IT band tightness bilaterally– lateral thigh groove | IT band tightness – lateral thigh groove |
| Abdominal & pelvic muscle s | No obvious involvement | No obvious involvement | Decreased use of abdominal obliques in rotation, decreased trunk rotation in transitions | Decreased use of abdominal obliques in active trunk rotation, increased use of spinal extension with momentum vs abdominals | Asymmetrical, as appropriate for corrected age of 2 months | Decreased use of abdominal oblique muscles-movement only in sagittal plane, inability to achieve posterior pelvic tilt in supine | No obvious involvement |
| LE weight bearing | Yes | Decreased | Yes – but with excessive hip and knee flexion and excessive plantarflexion | Yes | Yes | Yes but with tendency to shift forward and go up on toes | Yes – but with stiff extension and plantarflexion |
| Muscle tone | Decreased | Decreased | Decreased | Normal | Normal | Normal | Normal |
| Lower rib flaring | Not noted | Not noted | Present | Present | Not noted | Present | Not noted |
| Calf firmness | Not noted | Not noted | Present | Present | Not noted | Not noted | Not noted |
FTT, Failure to thrive; PT, Physiotherapy; AIMS, Alberta infant motor scale; GMFM, Gross motor function measure (of 5 dimensions); LE, Lower extremity: IT, Iliotibial