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 |
520210 |
1. Apply sex-specific ruleNone |
520210 |
2. Check conditionsNone |
520210 |
3. Check pre-conditions, main-only, mode, registry filtersRegistry filters:
2 out of 7 registries used, show all original rules. |
294 |
4. Check minimum number of eventsNone |
294 |
5. Include endpointsNone |
294 |
6. Filter based on genotype QC (FinnGen only) |
294 |
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, wide definition
- 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 | 294 | 112 | 182 |
Unadjusted period prevalence (%) | 0.06 | 0.04 | 0.08 |
Median age at first event (years) | 59.86 | 55.49 | 62.55 |
-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
CodeWAS (R11)
↥CodeWAS is a tool for exploring the associations between an endpoint and all of the medical codes and drug codes.
This is a new tool, please reach out using the contact form for feedback and improvement ideas.
First, a cohort is built by matching controls to the endpoint cases using year of birth and sex. Then, a Fisher test is done for all the medical codes and drug codes between the cases and controls of this cohort. Codes are reported in the table below if they have −log10(p-value) ≥ 6.
Matched cohort
- Matched cases
- 272
- Matched controls
- 2720
LabWAS
↥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: 9