Table 1 Outcome measures and tests at baseline and follow-up

  Motor function

Motor Function Measure [37, 38]

2–18

  Mental functions

Education level (school level)

5–18

EEG [48]^a

0–18

Denver II developmental screening test [49]

0–6

  Seeing functions

Visual acuity (Snellen)

4–18

  Hearing functions

Tone- and speech audiometry

2–18

  Pain

Faces scale pain [50]

6–18

  Cardiac function

ECG [51]

0–18

  Aerobic exercise tolerance

6-minute walk test MWT [52, 53]

walk

  Fatigability

NeuroQol fatigue domain [54]

2–18

  Respiratory function

Forced vital capacity and forced expiratory volume Spirometry [55]

6–18

  Digestive, defecation, weight maintenance and urination functions

Qualitative history

0–18

  Ingestion functions

TOMASS-C test [56]

6–18

Neuromuscular disease swallowing status scale [57]

2–18

Dysphagia questionnaire [40, 58]

2–18

  Muscle functions

Handgrip dynamometer

6–18

Manual muscle testing [59]

0–18

Serum creatine kinase (CK)

0–18

Age-adjusted clinical severity scale [60, 61]

5–18

FSHD evaluation score [62]

  Eye structure

Slit lamp examination

4–18

Dilated fundoscopy

4–18

Optical coherence angiography tomography

6–18

  Movement related structures

Muscle ultrasonography [39]

0–18

Spine x-ray^a

4–18

  Communication/social interactions

Social Economic Questionnaire SEV [63]^a

4–18

  Self-care/life areas

Kidscreen [64]

8–18

  Products and natural environment

Qualitative anamnesis and history

0–18