Consanguinity
:
In version 1.0, it was clarified that this item refers to the individual’s biological parents.
Genetic confirmation
:
In version 1.0, the definition of this item was changed to allow the value Yes
to be specified for individuals who are reported to have a genetically confirmed diagnosis of LGMD, but where the registry is not able to verify the variant(s) and their pathogenicity.
Creatine kinase
:
This item was removed in version 1.0.
Creatine kinase date
:
This item was removed in version 1.0.
Patient-reported outcome measure
:
In version 1.0, it was clarified that patient-reported registries should add the questionnaires of the outcome measures they intend to collect to their registry and calculate the score from the replies.
Patient-reported outcome measure
:
Before version 1.0, this item was erroneously marked as non-mandatory.
Patient-reported outcome measure score
:
Before version 1.0, this item was erroneously marked as non-mandatory.