No definition available.
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_MYONEU
Extra metadata
- Level in the ICD hierarchy
- 3
- First used in FinnGen datafreeze
- DF2
- Parent code in ICD-10
- G71
- Name in latin
- Morbositates myotonicae
Similar endpoints
↥List of similar endpoints to
Myotonic 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 | 2311 | 1166 | 1126 |
| Only index persons | 1965 | 1019 | 946 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.03 |
| Only index persons | 0.04 | 0.04 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 44.33 | 44.69 | 43.83 |
| Only index persons | 43.13 | 43.84 | 42.36 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 294 | 171 | 123 |
| Unadjusted period prevalence (%) | 0.06 | 0.06 | 0.05 |
| Median age at first event (years) | 47.19 | 47.08 | 47.34 |
-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
- 259
- Matched controls
- 2590
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.18
ICD-10 Finland
Other myotonic disease
+∞
130.6
114
*
G71.11
ICD-10 Finland
Dystrophia myotonica [Steinert]
+∞
119.2
105
*
G71.12
ICD-10 Finland
Myotonia congenita
+∞
93.5
84
*
Z31.5
ICD-10 Finland
Genetic counselling
20.0
57.3
90
67
G72.9
ICD-10 Finland
Myopathy, unspecified
452.6
40.2
39
*
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
27.6
26
*
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
+∞
26.5
25
*
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
24.4
23
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.4
20.0
56
107
L28
ICPC
Limited function/disability (L)
4.7
16.9
62
161
R1250
NOMESCO Finland
Evaluation of functional capability
12.9
16.5
29
25
N99
ICPC
Neurological disease other
26.5
16.3
22
9
G71.1
ICD-10 Finland
Myotonic disorders
+∞
15.8
15
*
J96.1
ICD-10 Finland
Chronic respiratory failure
30.8
15.4
20
7
G71.00
ICD-10 Finland
Muscular dystrophy benign [Becker]
+∞
14.7
14
*
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
+∞
14.7
14
*
N03AF01
ATC
carbamazepine; oral, rectal
7.9
13.5
31
44
CJE20
NOMESCO Finland
Phakoemulsification with implantation of artificial lens in posterior chamber
3.5
13.2
71
255
H26.02
ICD-10 Finland
Presenil cataract
11.4
13.1
24
23
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
6.1
11.8
32
58
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
3.2
11.6
70
271
C01BB02
ATC
mexiletine; systemic
62.6
10.7
12
*
G71.0
ICD-10 Finland
Muscular dystrophy
+∞
10.5
10
*
3592A
ICD-9 Finland
Muscular dystrophies and other myopathies, Myotonic disorders
+∞
10.5
10
*
XF404
NOMESCO Finland
Ambulatory ECG
4.3
10.3
39
103
N03AE01
ATC
clonazepam; systemic
5.0
9.8
31
68
SPAT1215
SPAT
Assessment of need for medical rehabilitation
5.4
9.5
28
57
G71.28
ICD-10 Finland
Other congenital myopathy
+∞
9.4
9
*
L19
ICPC
Muscle symptom/complaint NOS
12.1
9.2
16
14
W01
ICD-10 Finland
Fall on same level from slipping, tripping and stumbling
2.5
8.8
85
428
SPAT1229
SPAT
Assessment of need for aid
5.3
8.8
26
53
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
4.2
8.7
33
87
XA800
NOMESCO Finland
Neuropsychological investigation
5.2
8.7
26
54
RF410
NOMESCO Finland
NA
11.3
8.4
15
14
RF420
NOMESCO Finland
NA
9.9
8.4
16
17
N29
ICPC
Neurological sympt/complt other
9.9
8.4
16
17
L99
ICPC
Musculoskeletal disease other
10.5
8.1
15
15
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.9
8.1
52
205
N03AX16
ATC
pregabalin; oral
2.5
8.0
70
330
N03AX12
ATC
gabapentin; oral
2.9
7.9
51
203
R42
ICD-10 Finland
Dizziness and giddiness
2.6
7.7
59
260
N28
ICPC
Limited function/disability (N)
13.9
7.5
12
9
Z96.1
ICD-10 Finland
Presence of intraocular lens
3.9
7.4
30
85
G72.8
ICD-10 Finland
Other specified myopathies
+∞
7.3
7
*
G71.10
ICD-10 Finland
Myotonia drug-induced
+∞
7.3
7
*
33098
ICD-8 Finland
Hereditary neuromuscular disorders, Alii definiti
+∞
7.3
7
*
Z82.6
ICD-10 Finland
Family history of arthritis and other diseases of the musculoskeletal system and connective tissue
+∞
7.3
7
*
R5140
NOMESCO Finland
Monitoring the use of the aid
3.3
7.2
36
121
Z3226
NOMESCO Finland
Physiotherapist
2.5
7.2
63
297
R26.8
ICD-10 Finland
Other and unspecified abnormalities of gait and mobility
12.5
7.2
12
10
G47.3
ICD-10 Finland
Sleep apnoea
2.5
7.1
61
286
RF210
NOMESCO Finland
NA
6.2
7.1
18
31
H26.4
ICD-10 Finland
After-cataract
4.1
7.0
26
68
SPAT1223
SPAT
Implementation of physical therapy rehabilitation plan
2.2
6.8
79
428
R06.0
ICD-10 Finland
Dyspnoea
2.4
6.7
63
309
NXL00
NOMESCO Finland
Biopsy of muscle
71.5
6.5
7
*
M03BX01
ATC
baclofen; systemic
9.6
6.4
12
13
X59
ICD-10 Finland
Exposure to unspecified factor
2.4
6.3
58
279
XFP20
NOMESCO Finland
Check up of cardiac pacemaker
4.5
6.3
21
50
Z03.80
ICD-10 Finland
Observation for other suspected diseases and conditions
5.6
6.3
17
32
Z82.0
ICD-10 Finland
Family history of epilepsy and other diseases of the nervous system
+∞
6.3
6
*
G71.14
ICD-10 Finland
Paramyotonia congenita
+∞
6.3
6
*
G71.25
ICD-10 Finland
Congenital muscular dystrophy NOS
+∞
6.3
6
*
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
8.0
6.2
13
17
Z95.0
ICD-10 Finland
Presence of electronic cardiac devices
5.8
6.1
16
29
Mortality – FinRegistry
↥Association
Association between endpoint G6_MYOTDIS and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_MYOTDIS | 3.443 [2.74, 4.32] | < 0.001 |
| Birth year | 0.991 [0.98, 1.0] | 0.048 |
During the follow-up period (1.1.1998 — 31.12.2019), 168 out of 957 females with G6_MYOTDIS died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_MYOTDIS | 3.471 [2.87, 4.19] | < 0.001 |
| Birth year | 0.99 [0.98, 1.0] | 0.069 |
During the follow-up period (1.1.1998 — 31.12.2019), 219 out of 898 males with G6_MYOTDIS died.
Mortality risk
Mortality risk for people of age
years, who have G6_MYOTDIS.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.244% | 0.863% |
| 5 | 1.687% | 4.271% |
| 10 | 4.616% | 10.427% |
| 15 | 8.129% | 20.038% |
| 20 | 13.812% | 32.6% |
Relationships between endpoints
↥Index endpoint: G6_MYOTDIS – Myotonic disorders
GWS hits: 27
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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