obsolete_muscular dystrophy: ['An atrophic muscular disease that causes progressive weakness and degeneration of skeletal muscles used during voluntary movement.']
Endpoint definition
↥
Endpoint definition steps |
FinnGen |
|---|---|
Phenotype data |
473681 |
1. Apply sex-specific ruleNone |
473681 |
2. Check conditionsNone |
473681 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
257 |
4. Check minimum number of eventsNone |
257 |
5. Include endpointsNone |
257 |
6. Filter based on genotype QC (FinnGen only) |
242 |
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
Dystrophia musculorum (progressiva hereditaria)
Similar endpoints
↥List of similar endpoints to
Muscular dystrophy
based on the number of shared cases.
Similar with more cases:
- Diseases of the myoneural junction and muscle
- Neurological diseases
- Neurological diseases
- Any event in hilmo or specialist outpatient
- Any prescribed medicine buy
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 2432 | 1004 | 1402 |
| Only index persons | 1905 | 851 | 1054 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.04 |
| Only index persons | 0.04 | 0.03 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 41.20 | 48.93 | 35.53 |
| Only index persons | 44.75 | 49.50 | 40.91 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 242 | 127 | 115 |
| Unadjusted period prevalence (%) | 0.05 | 0.05 | 0.06 |
| Median age at first event (years) | 50.80 | 52.92 | 48.46 |
-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
No data
Mortality – FinRegistry
↥Association
Association between endpoint G6_MUSDYST and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_MUSDYST | 2.114 [1.67, 2.68] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.093 |
During the follow-up period (1.1.1998 — 31.12.2019), 115 out of 684 females with G6_MUSDYST died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_MUSDYST | 1.948 [1.55, 2.44] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.019 |
During the follow-up period (1.1.1998 — 31.12.2019), 174 out of 857 males with G6_MUSDYST died.
Mortality risk
Mortality risk for people of age
years, who have G6_MUSDYST.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.191% | 0.467% |
| 5 | 1.208% | 2.381% |
| 10 | 3.093% | 5.877% |
| 15 | 5.646% | 10.977% |
| 20 | 9.656% | 18.189% |
Relationships between endpoints
↥Index endpoint: G6_MUSDYST – Muscular dystrophy
GWS hits: 6
Endpoint
Case Overlap
Survival Analysis
Genetic Correlations
Genetic Signals
N (Jaccard index)
HR [CI]
Extremity
rg [CI]
Extremity
Hits
Coloc Hits
FinRegistry
FinnGen
FinRegistry
FinnGen
FinnGen
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