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Introduction
SMA
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Overview
Example forms
Downloads
Change log
Privacy-preserving record linkage
Demographics
Living status
Genetic diagnosis
Clinical observations
Scoliosis
Motor function
Wheelchair usage
Nutrition
Pulmonary function
Disease-modifying therapies (DMT)
Medication and rehabilitation
Hospitalisations and comorbidities
Clinical research
Motor measures
Patient-reported outcome measures
Electrophysiology and biomarkers
DMD
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Overview
Example forms
Downloads
Privacy-preserving record linkage
Demographics
Living status
Diagnosis
Clinical observations
Bone
Motor function
Wheelchair usage
Nutrition
Pulmonary function
Cardiac function
Therapies and medication
Hospitalisations and comorbidities
Clinical research
Patient-reported outcome measures
Biomarkers
LGMD
Home
Overview
Example forms
Downloads
Change log
Privacy-preserving record linkage
Demographics
Living status
Diagnosis
Clinical observations
Nutrition
Comorbidities
Motor function
Wheelchair
Motor measures
Patient-reported outcome measures
Medication and surgery
Pulmonary function
Cardiac function
Clinical research
Overview
Privacy-preserving record linkage
First name at birth
CR
PR
Last name at birth
CR
PR
Full date of birth
CR
PR
Sex at birth
CR
PR
Country of birth
CR
PR
Place of birth
CR
PR
Demographics
Date of birth
CR
PR
Sex
CR
PR
Country of residence
CR
PR
Is family member affected
datestamped
Affected family member
Affected family member relation
Affected family member sex
Affected family member side
Living status
Alive
CR
PR
datestamped
Date of death
Cause of death code
Cause of death classification
Genetic diagnosis
Genetic confirmation
CR
PR
Screening
Genetic report
CR
PR
Genetic report date
CR
PR
SMN1 variant
CR
PR
SMN1 variant HGVS
CR
PR
SMN1 testing method
SMN2 copy number
CR
PR
SMN2 copy number testing method
SMN2 variant c859GtoC
SMN2 variant c859GtoC testing method
Clinical observations
Symptom onset
CR
PR
datestamped
Symptom onset date
CR
PR
SMA type
CR
PR
Clinician Global Impression of Severity
CR
longitudinal
Clinician Global Impression of Improvement
longitudinal
Height
longitudinal
Height
Height measurement method
Weight
longitudinal
Head circumference
longitudinal
Shoulder contractures
longitudinal
Elbow contractures
longitudinal
Wrist contractures
longitudinal
Finger contractures
longitudinal
Hip contractures
longitudinal
Knee contractures
longitudinal
Ankle contractures
longitudinal
Jaw contractures
longitudinal
Scoliosis
Scoliosis diagnosis
CR
PR
datestamped
Cobb angle
Cobb angle date
Cobb angle
Scoliosis surgery performed
CR
PR
datestamped
Scoliosis surgery
Scoliosis surgery date
Motor function
Motor ability
CR
PR
longitudinal
Motor ability
CR
PR
Motor ability status
CR
PR
Motor ability observed in clinic
CR
PR
Motor ability episode
CR
PR
episode
Motor ability episode
CR
PR
Wheelchair usage
Wheelchair usage
CR
PR
longitudinal
Wheelchair usage episode
CR
PR
episode
Wheelchair usage frequency
CR
PR
Nutrition
Feeding tube usage
CR
PR
longitudinal
Feeding tube usage episode
CR
PR
episode
Feeding tube usage type
CR
PR
Pulmonary function
Invasive ventilation usage
CR
PR
longitudinal
Invasive ventilation episode
CR
PR
episode
Invasive ventilation duration
CR
PR
Non-invasive ventilation usage
CR
PR
longitudinal
Non-invasive ventilation episode
CR
PR
episode
Non-invasive ventilation duration
CR
PR
Airway clearance assistance
longitudinal
Pulmonary function test performed
CR
PR
datestamped
Pulmonary function test result
CR
PR
Pulmonary function test date
CR
PR
Forced vital capacity volume
CR
Forced vital capacity percentage
CR
Peak cough flow
CR
Disease-modifying therapies (DMT)
DMT received
CR
PR
datestamped
DMT episode
CR
PR
episode
DMT
CR
PR
DMT status
CR
PR
DMT single administration date
CR
PR
DMT stopping reason
CR
DMT dosage value
CR
DMT dosage unit
CR
DMT administration route
CR
DMT administration intervals
DMT administration schedule deviation
CR
DMT administration schedule deviation reason
CR
DMT corticosteroid administration duration
CR
DMT corticosteroid drug
CR
Anti-AAV9 antibody test
Anti-AAV9 antibody test date
Anti-AAV9 antibody test result
Anti-AAV9 antibody test days before administration
Medication and rehabilitation
Allopathic drugs
CR
PR
reference period
Allopathic drug usage
CR
PR
Allopathic drugs
CR
PR
Other allopathic drugs
CR
PR
Allopathic drug episode
episode
Allopathic drug
Other allopathic drug
Rehabilitative interventions
CR
PR
reference period
Rehabilitative interventions usage
CR
PR
Rehabilitative interventions
CR
PR
Hospitalisations and comorbidities
Hospitalisation period
CR
PR
reference period
Hospitalisation occurred
CR
PR
Hospitalisation
CR
PR
Hospitalisation admission date
CR
PR
Hospitalisation type
CR
PR
Hospitalisation nights
CR
PR
Hospitalisation acute reason code
CR
Hospitalisation acute reason classification
CR
Hospitalisation planned reason
CR
Hospitalisation SAE
CR
Hospitalisation SAE DMT
CR
Comorbidities period
CR
PR
reference period
Comorbidities diagnosed
CR
PR
Comorbidity
CR
PR
episode
Comorbidity code
CR
PR
Comorbidity classification
CR
PR
Comorbidity SAE
CR
Comorbidity SAE DMT
CR
Clinical research
Clinical trial participation
CR
PR
longitudinal
Clinical trial
CR
PR
Clinical trial name
CR
PR
Clinical trial drug
CR
PR
Other registry participation
datestamped
Other registry
datestamped
Motor measures
Validated motor measure non-evaluation reason
CR
longitudinal
Motor measure
CR
longitudinal
Motor measure
CR
Motor measure score
CR
Dominant hand
Patient-reported outcome measures
Patient Global Impression of Severity
CR
PR
longitudinal
Patient Global Impression of Improvement
CR
PR
longitudinal
Patient-reported outcome measure
longitudinal
Patient-reported outcome measure
Patient-reported outcome measure score
Electrophysiology and biomarkers
CMAP performed
datestamped
DEXA performed
datestamped
Muscle imaging performed
datestamped