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Table 1 Examinations performed in LAST STRONG study

From: Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study

Outcome domain Examination Age Visit
Medical history
 Past Perinatal period, motor milestones All 1
 Current Functional abilities, comorbidities, devices, treatments All All
Neurological examination and functional measurements
 Muscle function Muscle strength assessment (Medical Research Council, MRC) ≥ 5 years All
  Hand-Held dynamometry (HHD) ≥ 5 years All
  The Children’s Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND) <  2 years All
  Hammersmith Infant Neurological Examinations (HINE) <  2 years All
  Motor Function Measurement (MFM)-20/320 ≥ 2 years All
  Hammersmith Functional Motor Scale (HFMS); non-ambulant participants only ≥ 2 years All
  Pediatric Balance Scale (PBS); ambulant participants only 2–15 years All
  Mini Balance Evaluation Systems Test (miniBEST); ambulant participants only ≥ 16 years All
  Graded and timed function tests; ambulant participants only   All
1. 30 s sit to stand, climb 4 stairs, rise from the floor, timed up and go (TUG) ≥ 2 years
2. 6-Minute Walk test (6MWT), 10-Meter Walk test (10MWT) ≥ 5 years
  Functional Ambulation Classification (FAC) ≥ 5 years All
  Vignos and Brooke scale ≥ 2 years All
 Contractures Goniometry ≥ 2 years All
 Other Coordination, gait, reflexes, cranial nerves and facial muscles, dysmorphic features ≥ 2 years All
Questionnaires
 Quality of Life Pediatric Quality of Life Inventory (PedsQL) (Generic Core Scale, Neuromuscular Module; Child Self-report and/or parent proxy) 2–17 years All
  Research and Development-36 (RAND36) ≥ 18 years All
  Individualized Neuromuscular Quality of Life (INQoL) ≥ 18 years All
 Pain McGill pain questionnaire ≥ 12 years All
  Wong-Baker Faces Pain rating scale ≥ 2 years All
 Fatigue Checklist Individual Strength (CIS) ≥ 18 years All
  Pediatric Quality of Life Inventory (PedsQL) (Multidimensional Fatigue Scale; Child Self-report and/or parent proxy) 2–17 years All
 Activities and participation ACTIVLIM ≥ 6 years All
  Impact on Participation and Autonomy (IPA) ≥ 18 years All
  Egen Klassifikation version 2 (EK2) ≥ 12 years All
  Borg Rating Scale of Perceived Exertion; prior to and after 6MWT ≥ 5 years All
Imaging
 Muscles Muscle ultrasound All All
  Full body muscle magnetic resonance imaging (MRI) ≥ 10 years 1, 3
 Spine X-ray of total spine (anteroposterior, lateral) and of lumbar spine (flexion and extension)) ≥ 2 years 1, 3
 Bone density Dual-energy X-ray absorptiometry (DEXA-)scan ≥ 2 years 1, 3
Cardiopulmonary assessment
 Heart Electrocardiogram ≥ 2 years 1, 3
  Conventional echocardiography ≥ 2 years 1, 3
 Lungs Spirometry (forced expiratory volume in the first second (FEV1), forced vital capacity (FVC), vital capacity (VC), peak cough flow (PCF)) ≥ 5 years All
  Maximum Expiratory Pressure (MEP), Maximum Inspiratory Pressure (MIP) and Sniff Nasal Inspiratory Pressure (SNIP) ≥ 5 years All
  Ultrasound of the diaphragm All All
Accelerometry
 GENEActiv Accelerometry for eight consecutive days ≥ 2 years All