neuromuscular disease: Any disease that impairs the functioning of the muscles, either directly, being pathologies of the voluntary muscle, or indirectly, being pathologies of nerves or neuromuscular junctions
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. |
133 |
4. Check minimum number of eventsNone |
133 |
5. Include endpointsNone |
133 |
6. Filter based on genotype QC (FinnGen only) |
133 |
Control definitions (FinnGen only)
- Control exclude
- G6_MYONEU
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
Similar endpoints
↥List of similar endpoints to
Other and unspecified myoneural disorders
based on the number of shared cases.
Similar with more cases:
- Diseases of the myoneural junction and muscle
- Neurological diseases
- Neurological diseases, wide definition
- 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 | 1011 | 506 | 489 |
| Only index persons | 841 | 448 | 393 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.02 | 0.02 | 0.02 |
| Median age at first event (years) | |||
| Whole population | 61.18 | 58.65 | 63.71 |
| Only index persons | 59.26 | 56.81 | 62.04 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 133 | 81 | 52 |
| Unadjusted period prevalence (%) | 0.03 | 0.03 | 0.02 |
| Median age at first event (years) | 54.03 | 48.92 | 61.99 |
-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
- 119
- Matched controls
- 1192
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G70.9
ICD-10 Finland
Myoneural disorder, unspecified
+∞
121.6
95
*
N07AA02
ATC
pyridostigmine; systemic
+∞
103.9
84
*
G70.0
ICD-10 Finland
Myasthenia gravis
+∞
93.4
77
*
108
Kela drug reimbursment
Myasthenia gravis
+∞
90.5
75
*
L04AX01
ATC
azathioprine; systemic
26.9
33.4
47
28
G70.8
ICD-10 Finland
Other specified myoneural disorders
+∞
28.2
26
*
N07AA03
ATC
distigmine; systemic
297.4
24.6
24
*
R03CA02
ATC
ephedrine; oral
+∞
21.5
20
*
A12BA01
ATC
potassium chloride; oral
20.7
20.1
30
19
G70
ICD-10 Finland
Myasthenia gravis and other myoneural disorders
+∞
17.1
16
*
H02.4
ICD-10 Finland
Ptosis of eyelid
19.7
16.1
24
15
3580A
ICD-9 Finland
Myoneural disorders, Myasthenia gravis
+∞
16.0
15
*
G72.9
ICD-10 Finland
Myopathy, unspecified
+∞
14.9
14
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.9
11.8
31
58
GEC24
NOMESCO Finland
Thoracoscopic thymectomy
132.3
11.6
12
*
5872
FHL
Thymic exploration or thymectomy
+∞
11.6
11
*
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
3.6
9.8
60
260
G70.20
ICD-10 Finland
Congenital and developmental myasthenia
+∞
9.5
9
*
G70.28
ICD-10 Finland
Other congenital and developmental myasthenia
+∞
9.5
9
*
N99
ICPC
Neurological disease other
17.4
9.3
14
9
H53.2
ICD-10 Finland
Diplopia
9.2
8.4
17
21
73300
ICD-8 Finland
Other diseases of muscle, tendon and fascia, Myasthenia gravis
+∞
8.4
8
*
ZX120
NOMESCO Finland
Intravenous
5.5
8.1
24
52
GEC26
NOMESCO Finland
Mediastinoscopic thymectomy
+∞
7.4
7
*
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
5.3
7.3
22
49
H02AB07
ATC
prednisone; oral
3.8
7.1
32
106
H02AB06
ATC
prednisolone; systemic
2.8
6.7
70
405
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.7
6.6
66
371
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.8
6.6
28
88
3589X
ICD-9 Finland
Myoneural disorders, unspecified
+∞
6.3
6
*
G70.1
ICD-10 Finland
Toxic myoneural disorders
+∞
6.3
6
*
G72.8
ICD-10 Finland
Other specified myopathies
+∞
6.3
6
*
R13
ICD-10 Finland
Dysphagia
5.2
6.1
18
39
Mortality – FinRegistry
↥Association
Association between endpoint G6_MYONEUOTHUNS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_MYONEUOTHUNS | 2.125 [1.59, 2.84] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.074 |
During the follow-up period (1.1.1998 — 31.12.2019), 123 out of 407 females with G6_MYONEUOTHUNS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_MYONEUOTHUNS | 2.046 [1.58, 2.65] | < 0.001 |
| Birth year | 0.986 [0.98, 1.0] | 0.004 |
During the follow-up period (1.1.1998 — 31.12.2019), 166 out of 388 males with G6_MYONEUOTHUNS died.
Mortality risk
Mortality risk for people of age
years, who have G6_MYONEUOTHUNS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.187% | 0.44% |
| 5 | 1.036% | 2.468% |
| 10 | 2.73% | 5.883% |
| 15 | 5.304% | 10.882% |
| 20 | 9.42% | 18.602% |
Relationships between endpoints
↥Index endpoint: G6_MYONEUOTHUNS – Other and unspecified myoneural disorders
GWS hits: -
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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