spinal muscular atrophy: Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy.
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. |
272 |
4. Check minimum number of eventsNone |
272 |
5. Include endpointsNone |
272 |
6. Filter based on genotype QC (FinnGen only) |
266 |
Control definitions (FinnGen only)
Control exclude
G6_NEUATR
Extra metadata
Level in the ICD hierarchy
3
First used in FinnGen datafreeze
DF2
Similar endpoints
↥List of similar endpoints to
Other and unspecified spinal muscular atrophies
based on the number of shared cases.
Similar with more cases:
- Systemic atrophies primarily affecting the central nervous system
- Neurological diseases
- Neurological diseases
- Any event in hilmo or specialist outpatient
Similar with less cases:
None
Case counts by codes
↥
Summary Statistics
↥-FinRegistry-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | |||
| Whole population | 3434 | 1501 | 1850 |
| Only index persons | 1766 | 795 | 971 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.05 | 0.04 | 0.05 |
| Only index persons | 0.03 | 0.03 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 60.57 | 61.22 | 59.94 |
| Only index persons | 56.32 | 57.03 | 55.75 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 266 | 100 | 166 |
| Unadjusted period prevalence (%) | 0.07 | 0.04 | 0.08 |
| Median age at first event (years) | 59.93 | 54.62 | 63.13 |
-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_SPINAMUSCOTH and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_SPINAMUSCOTH | 5.729 [4.42, 7.42] | < 0.001 |
| Birth year | 0.993 [0.98, 1.0] | 0.129 |
During the follow-up period (1.1.1998 — 31.12.2019), 309 out of 670 females with G6_SPINAMUSCOTH died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_SPINAMUSCOTH | 3.826 [3.06, 4.79] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 340 out of 805 males with G6_SPINAMUSCOTH died.
Mortality risk
Mortality risk for people of age
years, who have G6_SPINAMUSCOTH.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.497% | 0.723% |
| 5 | 3.225% | 3.906% |
| 10 | 6.97% | 10.02% |
| 15 | 14.373% | 18.355% |
| 20 | 23.91% | 30.396% |
Relationships between endpoints
↥Index endpoint: G6_SPINAMUSCOTH – Other and unspecified spinal muscular atrophies
GWS hits: 7
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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