Table 2 Multisystemic symptoms of all included MFM patients (n = 43)

Respiratory symptoms (6)

restricted vital capacity

6**

(1x DES, 1x FLNC, 1x MYOT, 1x CRYAB)

ventilation assistance

1

nocturnal ventilation

2

(1x DES, 1x FLNC)

Cardiac symptoms (12)

atrial fibrillation

8

(1x DES, 2x MYOT)

tachyarrhythmia absoluta

1

(1x DES)

ventricular tachycardia

1

bradycardia

1

ventricular extrasystoles

1

3° AV block

3*

(2x DES, 1x MYOT)

LBBB

2

(1x MYOT)

RBBB

1

bifascicular block

1

tricuspid insufficiency

2

(1x DES)

aortic/mitral/tricuspid insufficiency

1

heart failure

3

(1x MYOT)

LV hypertrophy

3

DCM

2

(1x DES, 1x MYOT)

pace maker

6

(2x DES, 2xMYOT)

ICD

1

(1x MYOT)

heart transplantation

1

(1x MYOT)

sudden cardiac death

0

Polyneuropathy (12)

axonal

3

(1x BAG3)

demyelinating

0

axonal-demyelinating

9

(1x MYOT)

sensory

0

sensory + autonomic

1

motor

1

sensorimotor

10

(1x MYOT, 1x BAG3)

Bulbar symptoms (8)

dysphagia

5

(1x DES)

dysphonia

2

(1x DES)

Hearing impairment

6

(2x DES, 1x FLNC)

Gynaecomastia

1