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Table 1 Clinical characteristics of the patients

From: Is early detection of late-onset Pompe disease a pneumologist’s affair? A lesson from an Italian screening study

Characteristics Recruited patients LOPD patient #1 LOPD patient #2
Gender, M/F 80 M/60 F M F
Age at recruitment, mean ± SD 57 ± 16 69 42
Months from symptoms onset, median (min, max) 6 (0–373) 12 16
Body mass index, kg/m2 28.5 ± 9.5 19.7 23.3
Respiratory symptoms 100% yes yes
• Dyspnea during exercise 86.4% yes yes
• Dyspnea at rest 35.9% no yes
• Ineffective cough 41.1% yes yes
• Ortopnea 43.5% no no
• Fatigue 84.3% yes yes
• Airways infections 44.1% no yes
Sleep disorders 36.4% yes yes
• Nocturnal restlessness 44.2% yes yes
• Frequent reawaken 40.0% no yes
• Nocturnal apnoea 41.4% no no
• Snoring 30.0% no no
• Morning sleepiness 25.0% no yes
• Morning headache 20.0% yes no
• Day sleepiness 39.2% yes yes
Acute respiratory failure at recruitment 28.5% yes yes
Myalgia 52.1% no no
CPKaemia, IU/L 345 ± 700 206 471
AST, U/L 27 ± 13 44 56
PaCO2, mmHg 43 ± 12 54.2 46
Upright FVC % predicted 67 ± 25 62 66
Upright-Supine FVC% −18 ± 20 −28 −31
Lower-girdle muscle weakness, % 48.6% yes yes
Upper-girdle muscle weakness, % 35.7% yes yes
Walton&Gardner-Medwin Scale 2.9 ± 3.1 7 4
GAA activity, microMol/L/h 10.1 ± 6.6 0.36 0.71
  1. M males, F females, CPK creatinphosphokinase, AST aspartate transaminase, PaCO2 arterial partial pressure carbon dioxide, FVC forced vital capacity, GAA alpha glucosidase