Table 1 Characteristics of the participants by their primary diagnosis and walking ability

Participants (%)

20 (100)

4 (20)

8 (40)

8 (40)

Females (%)/males (%)

15 (75)/5 (25)

2 (50)/2 (50)

6 (75)/2 (25)

7 (88)/1 (12)

Age in years (r)

47 (19–75)

48 (22–60)

44 (19–75)

51 (26–74)

Age in years females (r)

51 (19–75)

Age in years males (r)

37 (22–57)

BMI (r)

25.8

(18.2–35.6)

26.9

(20.0–32.4)

25.0

(18.8–35.6)

26.3

(18.2–34.4)

Respiratory support n (%)

Non-invasive nocturnal

4 (20)

3 (75)

1 (13)

0

Mechanical continuous n (%)

2 (10)

1 (25)

1 (13)

0

Life situation n (%)

Student

2 (10)

0

2 (25)

0

Unemployed

1 (5)

0

0

1 (13)

Working

9 (45)

0

4 (50)

5 (63)

Disability pensioner

5 (25)

3 (75)

1 (13)

1 (13)

Old-age pensioner

3 (15)

1 (25)

1 (13)

1 (13)

Household structure

Solitaire (A)

11 (4)

2 (2)

5 (2)

4 (0)

With family (A)

9 (2)

2 (2)

3 (0)

4 (0)

Pathogenic gene variants n (%)

AD TPM2^U

2 (10)

0

0

2 (25)

AR HOZ mis^W, large AD^K or mos^S del in NEB

6 (30)

0

0

6 (75)

Other AR NEB^L1

10 (50)

3 (75)

7 (88)

0

AD^L2/de novo ACTA1^U

2 (10)

1 (25)

1 (12)

0

Conditions diagnosed by a doctor** n (%)

Asthma, other pulmonary disease or recurrent pneumonias

8 (40)

4 (100)

2 (25)

2 (25)

Joint deformities

6 (30)

2 (50)

3 (37.5)

1 (12.5)

Joint hypermobility

7 (35)

1 (25)

5 (62.5)

1 (12.5)

Joint stiffness and/or contractures

6 (30)

2 (50)

3 (37.5)

1 (12.5)

Arthritis or rheumatic disorder

6 (30)

1 (25)

4 (50)

1 (12.5)

Osteoporosis

4 (20)

3 (75)

0

1 (12.5)

Scoliosis

8 (40)

4 (100)

3 (37.5)

1 (12.5)

Depression or anxiety

3 (15)

0

1 (12.5)

2 (25)