Table 1 Clinical characteristics of the patients

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