This is a non-core endpoint: only basic statistics are computed.
See these related core endpoints for full statistics:
Congenital myopathies
G6_CONMYOP
central core myopathy: An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
429209 |
1. Apply sex-specific ruleNone |
429209 |
2. Check conditionsNone |
429209 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
53 |
4. Check minimum number of eventsNone |
53 |
5. Include endpointsNone |
53 |
6. Filter based on genotype QC (FinnGen only) |
49 |
Control definitions (FinnGen only)
Control exclude
G6_MYONEU
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Parent code in ICD-10
G71
Name in latin
Myopathiae congenitae
Similar endpoints
↥List of similar endpoints to
Congenital myopathies
based on the number of shared cases.
Broader endpoints:
- Diseases of the myoneural junction and muscle
- Neurological diseases
- Neurological diseases
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Narrower endpoints:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 713 | 322 | 384 |
| Only index persons | 528 | 245 | 283 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 40.42 | 42.53 | 38.30 |
| Only index persons | 39.02 | 40.01 | 38.17 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 49 | 25 | 24 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 46.30 | 40.27 | 52.58 |
-FinRegistry-
Age distribution of first events
-FinnGen-
Age distribution of first events
-FinRegistry-
Year distribution of first events
-FinnGen-
Year distribution of first events
-FinRegistry-
Cumulative Incidence Function
-FinnGen-
Cumulative Incidence Function
Not a core endpoint, no data to show.
Mortality – FinRegistry
↥Relationships between endpoints
↥Index endpoint: G6_CONMYOP – Congenital myopathies
GWS hits: -
Loading Relationships table