Period in which the first symptoms manifested, as reported by the individual or their family. Any symptoms which were not considered abnormal at the time, but can retrospectively be attributed to the disease, should be considered as well. If the value is Asymptomatic, this item must be collected at each update until the individual shows first symptoms. If the value is not Asymptomatic, the datestamp is irrelevant and therefore not required.
This item refers to symptoms of LGMD. If the value is not Asymptomatic, the date must be specified in Symptom onset date, if known.
| Item type: | single selection |
| Consistency rules: | If values for both this item and |
| Usage in other datasets: | SMADMD |
The possible values for this item are based on the Human Phenotype Ontology and include the broad classes Pediatric onset and Adult onset to cover cases in which a more specific range (e.g. Childhood onset) is not known.
For each symptom the individual is known to have or have had at some point, an instance of this record must be provided.
Period in which the symptom specified in Symptom first manifested, as reported by the individual or their family. The value At disease onset means that this symptom first manifested at the time specified in Symptom onset or Symptom onset date.
Location of weakness when first noticed by the individual.
This item refers to the time specified in Initial weakness date.
| Item type: | multiple selection |
Earliest available serum creatine kinase (CK) level. In case the earliest available level is known to be elevated due to circumstances unrelated to the LGMD (e.g. prior exercise), a later level may be provided instead. The date of the test this value refers to must be provided in the item Creatine kinase date.
| Item type: | single selection |
This item was removed in version 1.0.
First LGMD-related signs observed by a clinician. In case no LGMD-related signs have been observed yet, this item must be unspecified and registries should ask the data provider at each update to verify if this has changed. The date of the examination in which the specified signs were first observed must be provided in the item Initial signs date.
| Item type: | multiple selection |
Combination of symptoms, signs and other medical findings corresponding to a phenotype with which the disease started. Whenever one of the listed phenotypes is predominant at disease begin, it must be given as the only value of this item, even if the individual also shows minor features of another phenotype. However, in borderline cases in which a single predominant phenotype cannot be identified, mutliple values may be given. The value of this item should refer to the first time when sufficient observations and tests have been made, typically at the first examination by a neuromuscular specialist. If an individual has only seen a neuromuscular specialist long after the onset of the disease, the assessment should not retrospectively refer to the initial symptoms as reported by the individual, as it will not be possible to include relevant findings which would have been obtained at that time. The judgment specified in the value of this item must be provided by the neuromuscular specialist who has performed the examination on which it is based. In case their judgment is not available, this value must be unspecified. Asymptomatic means that the individual reported no symptoms related to their LGMD diagnosis (regardless of whether the individual has elevated creatine kinase levels or not). As long as the value is Asymptomatic, registries should ask the data provider at each update to verify if this has changed.
| Item type: | multiple selection |
| Consistency rules: | If |
Refers to the symptoms presented by the individual related to the muscle disease at the date of the assessment by clinician or individual.
| Item type: | multiple selection |
| Item type: | multiple selection |