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
No data
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
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G12.9
ICD-10 Finland
Spinal muscular atrophy, unspecified
+∞
143.9
125
*
G12.8
ICD-10 Finland
Other spinal muscular atrophies and related syndromes
+∞
94.4
85
*
G12.2
ICD-10 Finland
Motor neuron disease
+∞
65.3
60
*
34899
ICD-8 Finland
Motor neurone disease, Other and unspecified manifestations
+∞
26.5
25
*
G12.1
ICD-10 Finland
Other inherited spinal muscular atrophy
+∞
24.3
23
*
G62.9
ICD-10 Finland
Polyneuropathy, unspecified
13.2
23.1
41
36
N03AE01
ATC
clonazepam; systemic
8.4
22.2
51
73
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.2
18.9
54
105
G72.9
ICD-10 Finland
Myopathy, unspecified
35.7
18.3
23
7
TAB00
NOMESCO Finland
Lumbar puncture
9.9
17.8
36
41
N99
ICPC
Neurological disease other
17.0
14.2
22
14
N07XX02
ATC
riluzole; oral
+∞
12.6
12
*
3352A
ICD-9 Finland
Anterior horn cell disease, Motor neuron disease[SCLEROSIS LATERALIS AMYOTROPHICA]
+∞
11.5
11
*
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
29.4
10.8
14
5
R1250
NOMESCO Finland
Evaluation of functional capability
12.0
10.2
18
16
N03AX12
ATC
gabapentin; oral
3.3
10.0
54
189
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
4.3
9.7
36
93
L28
ICPC
Limited function/disability (L)
2.9
9.6
64
261
3351X
ICD-9 Finland
Anterior horn cell disease, Spinal muscular atrophy[ATROPHIA MUSCULORUM SPINALIS NUD]
+∞
9.4
9
*
34898
ICD-8 Finland
Motor neurone disease, Alii definiti
+∞
9.4
9
*
NJ3BG
NOMESCO Finland
MRI examination of extremities with high intensity magnet
+∞
9.4
9
*
G13.0
ICD-10 Finland
Paraneoplastic neuromyopathy and neuropathy
+∞
9.4
9
*
N28
ICPC
Limited function/disability (N)
10.1
9.4
18
19
M03BX01
ATC
baclofen; systemic
9.9
8.4
16
17
J96.1
ICD-10 Finland
Chronic respiratory failure
7.2
8.2
19
28
R47.1
ICD-10 Finland
Dysarthria and anarthria
12.2
8.2
14
12
N29
ICPC
Neurological sympt/complt other
9.4
8.2
16
18
G60.0
ICD-10 Finland
Hereditary motor and sensory neuropathy
46.3
7.8
9
*
NXL00
NOMESCO Finland
Biopsy of muscle
25.8
7.6
10
*
Z50.1
ICD-10 Finland
Other physical therapy
4.6
7.6
25
58
M62.5
ICD-10 Finland
Muscle wasting and atrophy, not elsewhere classified
82.2
7.5
8
*
G71.08
ICD-10 Finland
Other muscular dystrophy
82.2
7.5
8
*
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.6
7.4
58
258
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
+∞
7.3
7
*
SPAT1229
SPAT
Assessment of need for aid
3.2
7.1
37
128
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
3.9
6.9
27
74
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
7.5
6.8
15
21
R25.3
ICD-10 Finland
Fasciculation
41.1
6.8
8
*
R13
ICD-10 Finland
Dysphagia
3.5
6.4
29
90
G13.2*E03.9
ICD-10 Finland
Systemic atrophy primarily affecting central nervous system in myxoedema
+∞
6.3
6
*
G12.0
ICD-10 Finland
Infantile spinal muscular atrophy, type I [Werdnig-Hoffman]
+∞
6.3
6
*
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
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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