Item library

Name	Type	Category
First name at birth	Free text	PPRL
Last name at birth	Free text	PPRL
Full date of birth	Date	PPRL
Sex at birth	Single selection	PPRL
Country of birth	Restricted text	PPRL
Place of birth	Free text	PPRL
Date of birth	Date	Demographics
Sex	Single selection	Demographics
Country of residence	Restricted text	Demographics
Is family member affected	Yes/no	Demographics
Affected family member relation	Single selection	Demographics
Affected family member sex	Single selection	Demographics
Affected family member side	Single selection	Demographics
Alive	Yes/no	Living status
Date of death	Date	Living status
Cause of death code	Restricted text	Living status
Cause of death classification	Single selection	Living status
Genetic confirmation	Yes/no	Genetics
Screening	Single selection	Genetics
SMN1 variant	Single selection	Genetics
Variant HGVS	Restricted text	Genetics
Genetic testing method	Single selection	Genetics
SMN2 copy number	Restricted text	Genetics
SMN2 copy number testing method	Single selection	Genetics
SMN2 variant c859GtoC	Yes/no	Genetics
SMN2 variant c859GtoC testing method	Single selection	Genetics
Symptom onset	Single selection	Clinical observations
Symptom onset date	Date	Clinical observations
SMA type	Single selection	Clinical observations
Clinician Global Impression of Severity	Single selection	Clinical observations
Clinician Global Impression of Improvement	Single selection	Clinical observations
Height	Decimal	Clinical observations
Height measurement method	Single selection	Clinical observations
Weight	Decimal	Clinical observations
Head circumference	Decimal	Clinical observations
Shoulder contractures	Yes/no	Clinical observations
Elbow contractures	Yes/no	Clinical observations
Wrist contractures	Yes/no	Clinical observations
Finger contractures	Yes/no	Clinical observations
Hip contractures	Yes/no	Clinical observations
Knee contractures	Yes/no	Clinical observations
Ankle contractures	Yes/no	Clinical observations
Jaw contractures	Yes/no	Clinical observations
Scoliosis diagnosis	Yes/no	Scoliosis
Cobb angle	Decimal	Scoliosis
Scoliosis surgery performed	Yes/no	Scoliosis
Motor ability	Single selection	Motor function
Motor ability status	Single selection	Motor function
Motor ability observed in clinic	Yes/no	Motor function
Motor ability episode	Single selection	Motor function
Wheelchair usage	Single selection	Wheelchair
Wheelchair usage frequency	Single selection	Wheelchair
Feeding tube usage	Single selection	Nutrition
Feeding tube usage type	Single selection	Nutrition
Invasive ventilation usage	Single selection	Pulmonary function
Ventilation duration	Single selection	Pulmonary function
Non-invasive ventilation usage	Single selection	Pulmonary function
Airway clearance assistance	Single selection	Pulmonary function
Pulmonary function test performed	Yes/no	Pulmonary function
Forced vital capacity volume	Decimal	Pulmonary function
Forced vital capacity percentage	Decimal	Pulmonary function
Peak cough flow	Decimal	Pulmonary function
DMT received	Yes/no	DMT
DMT	Single selection	DMT
DMT status	Single selection	DMT
DMT single administration date	Date	DMT
DMT stopping reason	Single selection	DMT
DMT dosage value	Decimal	DMT
DMT dosage unit	Single selection	DMT
DMT administration route	Single selection	DMT
DMT administration intervals	Restricted text	DMT
DMT administration schedule deviation	Yes/no	DMT
DMT administration schedule deviation reason	Single selection	DMT
DMT corticosteroid administration duration	Integer	DMT
DMT corticosteroid drug	Single selection	DMT
Anti-AAV9 antibody test result	Single selection	DMT
Anti-AAV9 antibody test days before administration	Integer	DMT
Allopathic drug usage	Yes/no	Medication
Allopathic drugs	Multiple selection	Medication
Other allopathic drugs	Free text	Medication
Allopathic drug	Single selection	Medication
Other allopathic drug	Free text	Medication
Rehabilitative interventions usage	Yes/no	Medication
Rehabilitative interventions	Multiple selection	Medication
Hospitalisation occurred	Yes/no	Hospitalisations
Hospitalisation type	Single selection	Hospitalisations
Hospitalisation nights	Integer	Hospitalisations
Hospitalisation acute reason code	Restricted text	Hospitalisations
Hospitalisation acute reason classification	Single selection	Hospitalisations
Hospitalisation planned reason	Single selection	Hospitalisations
Hospitalisation SAE	Yes/no	Hospitalisations
SAE DMT	Single selection	Hospitalisations
Comorbidities diagnosed	Yes/no	Hospitalisations
Comorbidity code	Restricted text	Hospitalisations
Comorbidity classification	Single selection	Hospitalisations
Comorbidity SAE	Yes/no	Hospitalisations
Clinical trial participation	Single selection	Clinical research
Clinical trial name	Free text	Clinical research
Clinical trial drug	Free text	Clinical research
Other registry participation	Yes/no	Clinical research
Other registry	Free text	Clinical research
Validated motor measure non-evaluation reason	Single selection	Motor measures
Motor measure	Single selection	Motor measures
Motor measure score	Decimal	Motor measures
Dominant hand	Single selection	Motor measures
Patient Global Impression of Severity	Single selection	PROM
Patient Global Impression of Improvement	Single selection	PROM
Patient-reported outcome measure	Single selection	PROM
Patient-reported outcome measure score	Decimal	PROM
CMAP performed	Yes/no	Biomarkers
DEXA performed	Yes/no	Biomarkers
Muscle imaging performed	Yes/no	Biomarkers
Diagnosis date	Date	Diagnosis
Diagnosis method	Multiple selection	Diagnosis
Genetic DMD diagnosis	Single selection	Genetics
Scoliosis surgery type	Single selection	Scoliosis
Spinal fractures diagnosed	Yes/no	Bone
Spinal fracture date	Date	Bone
Non-spinal fractures diagnosed	Yes/no	Bone
Bone	Free text	Bone
Affected family member confirmed diagnosis	Yes/no	Demographics
Person collecting	Single selection	Motor measures
Motor measure collection method	Single selection	Motor measures
Spirometry position	Single selection	Pulmonary function
Ventilation	Yes/no	Pulmonary function
LGMD type	Single selection	Diagnosis
Consanguinity	Yes/no	Demographics
Symptoms at onset	Multiple selection	Clinical observations
Initial weakness date	Date	Clinical observations
Initial weakness location	Multiple selection	Clinical observations
Initial LGMD phenotype	Multiple selection	Clinical observations
Current LGMD symptoms	Multiple selection	Clinical observations
Current cardiac symptoms	Multiple selection	Clinical observations
Current respiratory symptoms	Multiple selection	Clinical observations
Comorbidities	Yes/no	Clinical observations
Initial LGMD signs	Multiple selection	Clinical observations
Muscle biopsy performed	Yes/no	Diagnosis
Muscle biopsy date	Date	Diagnosis
Muscle MRI performed	Yes/no	Diagnosis
Creatine kinase	Single selection	Clinical observations
Non-spinal fracture location	Single selection	Bone
Non-spinal fracture side	Single selection	Bone
Motor ability current status	Yes/no	Motor function
Cardiac imaging performed	Yes/no	Cardiac function
Cardiac imaging type	Single selection	Cardiac function
Left ventricular ejection fraction	Decimal	Cardiac function
Fractional shortening	Decimal	Cardiac function
Corticosteroid usage	Single selection	Medication
Corticosteroid drug	Single selection	Medication
Corticosteroid administration frequency	Single selection	Medication
Relative medication dosage	Decimal	Medication
Stopping reason	Multiple selection	Medication
Cardiomyopathy	Yes/no	Cardiac function
Cardiomyopathy diagnosis date	Date	Cardiac function
Arrhythmia	Yes/no	Cardiac function
Arrhythmia diagnosis date	Date	Cardiac function
Electrocardiography results	Single selection	Cardiac function
Airway clearance technique	Multiple selection	Pulmonary function
Corticosteroid administration days on	Integer	Medication
Corticosteroid administration days off	Integer	Medication
Genetic report date	Date	Genetics
Cardiac treatment	Single selection	Cardiac function
Cardiac treatment usage	Single selection	Cardiac function
ClinVar reference accession number	Restricted text	Genetics
Pathogenicity	Single selection	Genetics
Other cardiac drug	Free text	Cardiac function
Supplement usage	Yes/no	Medication
Orthopedic surgery performed	Yes/no	Medication
Orthopedic surgery type	Single selection	Medication
Scoliosis diagnosis with Cobb angle	Single selection	Scoliosis
Current LGMD signs	Multiple selection	Clinical observations
Motor ability binary status	Yes/no	Motor function
Loss of ambulation date	Date	Motor function
Hospitalisation admission date	Date	Hospitalisations
Clinical trial NCT number	Restricted text	Clinical research
Muscle biopsy purpose	Single selection	Diagnosis
Muscle biopsy stored in biobank	Yes/no	Diagnosis
Muscle biopsy biobank	Free text	Diagnosis
Genetic report date	Date	Genetics
Scoliosis surgery date	Date	Bone
Non-spinal fracture date	Date	Bone
Pulmonary function test date	Date	Pulmonary function
Cardiac imaging date	Date	Cardiac function
LGMD symptom	Single selection	PPRL
Loss of rise from floor date	Date	Motor function
Symptom begin date	Date	Clinical observations
Symptom begin	Single selection	Clinical observations
Creatine kinase date	Date	Clinical observations
Initial signs date	Date	Clinical observations
Initial phenotype date	Date	Clinical observations
Is family member affected with confirmation	Single selection	Demographics
Orthopedic surgery date	Date	Medication
DMD variant CNV	Restricted text	Genetics
Cobb angle date	Date	Bone
Anti-AAV9 antibody test date	Date	DMT
Diagnosis	Restricted text	Diagnosis
DMT free-text	Free text	DMT
Genetic confirmation alternative	Single selection	Genetics
Electrocardiography date	Date	Cardiac function
Comorbidity status	Single selection	Hospitalisations
Gene	Restricted text	Genetics
DMT received alternative	Single selection	DMT
Myotonic dystrophy type 1 subtype	Single selection	Diagnosis
Myotonia medication use	Yes/no	Medication
Myotonia medication	Multiple selection	Medication
Other myotonia medication	Restricted text	Medication
Fatigue medication use	Yes/no	Medication
Fatigue medication	Multiple selection	Medication
Other fatigue medication	Restricted text	Medication
Myotonia present	Yes/no	Clinical observations
Cardiac implant use	Yes/no	Cardiac function
Cardiac implant type	Single selection	Cardiac function
Clinical diagnosis date	Date	Diagnosis
Genetic confirmation date	Date	Diagnosis
DM1 motor ability	Single selection	Motor function
Hand opening time	Decimal	Clinical observations
Hand opening time evaluation method	Single selection	Clinical observations
Heart block diagnosed	Yes/no	Cardiac function
Heart block diagnosis date	Date	Cardiac function
QRS duration	Decimal	Cardiac function
PR interval	Decimal	Cardiac function
Cardiac medication use	Yes/no	Cardiac function
Cardiac medication	Multiple selection	Cardiac function
DMPK CTG repeat length in base pairs	Integer	Genetics
Syncope present	Yes/no	Clinical observations
Orthopnea present	Yes/no	Clinical observations
Fatigue present	Yes/no	Clinical observations
Vivid dreams present	Yes/no	Clinical observations
Morning headaches present	Yes/no	Clinical observations
Pulmonary infections requiring antibiotics	Integer	Pulmonary function
Pulmonary infections requiring hospitalisation	Integer	Pulmonary function
Presyncope present	Yes/no	Clinical observations
Cataract surgery performed	Yes/no	Hospitalisations
Cataract surgery date	Date	Hospitalisations
Malignancy location	Multiple selection	Hospitalisations
Other malignancy location	Restricted text	Hospitalisations
Ethnicity	Single selection	Demographics
Transmission	Single selection	Genetics
Muscular Impairment Rating Scale grade	Integer	Motor measures
Grip strength value	Decimal	Motor measures
Grip strength hand	Single selection	Motor measures
Grip strength unit	Single selection	Motor measures
Fatigue and Daytime Sleepiness Scale score	Integer	PROM
EQ-5D-5L state	Integer	PROM
EQ-5D-5L VAS	Integer	PROM