Myasthenia gravis

G6_MYASTHENIA

Myasthenia gravis: Myasthenia gravis (MG) is a rare, clinically heterogeneous, autoimmune disorder of the neuromuscular junction characterized by fatigable weakness of voluntary muscles.

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Endpoint definition

Endpoint definition steps

FinnGen

Phenotype data

473681

1. Apply sex-specific rule

None

473681

2. Check conditions

None

473681

3. Check pre-conditions, main-only, mode, registry filters

Registry filters:

  • Hospital discharge: ICD-10 G70.0#
  • Hospital discharge: ICD-9 3580
  • Hospital discharge: ICD-8 7330
  • Cause of death: ICD-10 G70.0#
  • Cause of death: ICD-9 3580
  • Cause of death: ICD-8 7330
  • KELA reimbursements: KELA codes 108

3 out of 7 registries used, show all original rules.

525

4. Check minimum number of events

None

525

5. Include endpoints

None

525

6. Filter based on genotype QC (FinnGen only)

504

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
G70

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 3518 1791 1681
Only index persons 2942 1550 1392
Unadjusted period prevalence (%)
Whole population 0.05 0.05 0.05
Only index persons 0.06 0.06 0.05
Median age at first event (years)
Whole population 56.01 50.07 62.40
Only index persons 54.55 48.24 61.57

-FinnGen-

Key figures

All Female Male
Number of individuals 504 266 238
Unadjusted period prevalence (%) 0.11 0.10 0.12
Median age at first event (years) 54.28 47.30 62.09

-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
525
Matched controls
5252
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
108
Kela drug reimbursment
Myasthenia gravis
+∞
323.0
382
*
G70.0
ICD-10 Finland
Myasthenia gravis
+∞
323.0
484
*
N07AA02
ATC
pyridostigmine; systemic
6685.3
323.0
420
*
L04AX01
ATC
azathioprine; systemic
34.2
139.4
185
82
H53.2
ICD-10 Finland
Diplopia
30.3
97.9
133
58
GEC24
NOMESCO Finland
Thoracoscopic thymectomy
+∞
90.3
84
*
H02.4
ICD-10 Finland
Ptosis of eyelid
24.5
86.4
125
66
N07AA03
ATC
distigmine; systemic
309.1
79.9
79
*
G70.9
ICD-10 Finland
Myoneural disorder, unspecified
+∞
78.1
73
*
R03CA02
ATC
ephedrine; oral
300.7
54.2
54
*
3580A
ICD-9 Finland
Myoneural disorders, Myasthenia gravis
+∞
53.0
50
*
GD1BD
NOMESCO Finland
Thorax extensive CT-examination
10.0
49.7
105
128
A12BA01
ATC
potassium chloride; oral
12.2
47.3
89
86
73300
ICD-8 Finland
Other diseases of muscle, tendon and fascia, Myasthenia gravis
+∞
42.3
40
*
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
6.1
39.1
116
232
H02AB06
ATC
prednisolone; systemic
3.3
36.3
335
1841
G70
ICD-10 Finland
Myasthenia gravis and other myoneural disorders
+∞
33.7
32
*
N99
ICPC
Neurological disease other
32.5
32.2
42
14
R13
ICD-10 Finland
Dysphagia
6.8
30.9
82
139
5872
FHL
Thymic exploration or thymectomy
+∞
30.5
29
*
GEC23
NOMESCO Finland
Transsternal thymectomy
308.1
29.1
29
*
GD1AD
NOMESCO Finland
Thorax CT examination
7.4
27.1
67
102
GD1AA
NOMESCO Finland
Thorax X-ray examination
2.6
24.9
297
1736
G72.9
ICD-10 Finland
Myopathy, unspecified
+∞
23.1
22
*
2AB04
NOMESCO Finland
NA
109.2
19.7
21
*
H02AB07
ATC
prednisone; oral
3.0
18.8
121
472
GD1UA
NOMESCO Finland
Thorax X-ray examination outside radiological department
3.0
18.7
125
497
AA1BG
NOMESCO Finland
Standard MRI examination of brain with high intensity magnet
4.1
18.3
75
204
G35
ICD-10 Finland
Multiple sclerosis
12.5
18.0
32
27
H50.2
ICD-10 Finland
Vertical strabismus
23.8
17.9
25
11
GEC26
NOMESCO Finland
Mediastinoscopic thymectomy
+∞
17.8
17
*
G70.28
ICD-10 Finland
Other congenital and developmental myasthenia
+∞
17.8
17
*
AA1AD
NOMESCO Finland
CT of head and brain
2.5
17.5
162
782
R4130
NOMESCO Finland
Speech therapy
9.7
16.9
34
37
A12AX
ATC
Calcium, combinations with vitamin D and/or other drugs
2.3
16.9
202
1109
WW400
NOMESCO Finland
Plasmaferesis
65.5
16.8
19
*
AA1CG
NOMESCO Finland
Extensive MRI examination of brain with high intensity magnet
3.9
16.2
69
194
ZXC96
NOMESCO Finland
Robot assisted procedure
7.7
16.0
37
51
R47.1
ICD-10 Finland
Dysarthria and anarthria
17.9
15.7
24
14
G70.8
ICD-10 Finland
Other specified myoneural disorders
+∞
15.7
15
*
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
4.4
15.1
56
139
G70.20
ICD-10 Finland
Congenital and developmental myasthenia
+∞
14.6
14
*
A02BC02
ATC
pantoprazole; systemic
2.0
13.3
359
2696
G70.1
ICD-10 Finland
Toxic myoneural disorders
+∞
12.5
12
*
N28
ICPC
Limited function/disability (N)
10.9
12.4
23
22
G70.21
ICD-10 Finland
Limb girdle myasthenia
+∞
11.5
11
*
R4110
NOMESCO Finland
Physiotherapy
2.0
10.9
159
920
H49.0
ICD-10 Finland
Third [oculomotor] nerve palsy
16.4
10.4
16
10
H49.1
ICD-10 Finland
Fourth [trochlear] nerve palsy
17.9
9.4
14
8
73308
ICD-8 Finland
NA
+∞
9.4
9
*
XCW99
NOMESCO Finland
Other investigative procedure of eye
2.5
9.1
76
338
CBJ40
NOMESCO Finland
Resection of levator muscle of eyelid
15.9
9.1
14
9
Z3226
NOMESCO Finland
Physiotherapist
2.1
8.6
109
590
XA100
NOMESCO Finland
Tensilon test
+∞
8.4
8
*
G73.1*C80.99
ICD-10 Finland
Eaton-Lambert syndrome
+∞
8.4
8
*
AA1DG
NOMESCO Finland
Very extensive MRI examination of brain with high intensity magnet
4.8
8.2
26
56
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
2.4
8.1
74
341
CBJ30
NOMESCO Finland
Plastic repair of levator aponeurosis of eyelid
11.9
8.1
14
12
H49.2
ICD-10 Finland
Sixth [abducent] nerve palsy
10.3
8.1
15
15
L28
ICPC
Limited function/disability (L)
2.2
8.0
89
451
UDQ12
NOMESCO Finland
Flexible laryngoscopy
3.3
7.8
38
121
N29
ICPC
Neurological sympt/complt other
6.1
7.8
20
34
ZX120
NOMESCO Finland
Intravenous
2.4
7.6
66
299
D15.0
ICD-10 Finland
Benign neoplasm: Thymus
81.2
7.4
8
*
D38.4
ICD-10 Finland
Neoplasm of uncertain or unknown behaviour: Thymus
81.2
7.4
8
*
XF400
NOMESCO Finland
ECG with 12 standard connections
2.0
7.4
95
513
R06.0
ICD-10 Finland
Dyspnoea
1.8
7.4
141
881
JC2KB
NOMESCO Finland
Functional X-ray examination of swallowing
9.6
7.3
14
15
G72.8
ICD-10 Finland
Other specified myopathies
+∞
7.3
7
*
Z01.0
ICD-10 Finland
Examination of eyes and vision
2.0
7.2
95
521
R1260
NOMESCO Finland
Evaluation of communicative skills
6.2
7.1
18
30
ZXD10
NOMESCO Finland
Scheduled procedure
1.7
6.9
204
1451
DM1QA
NOMESCO Finland
Paranasal sinuses X-ray examination in one projection
3.2
6.8
34
111
6BA02
NOMESCO Finland
NA
22.8
6.7
9
*
TAB00
NOMESCO Finland
Lumbar puncture
3.1
6.7
35
119
ZXE10
NOMESCO Finland
More than one and less than three hours
1.7
6.6
191
1343
XKD03
NOMESCO Finland
Urethral pressure profilometry
4.2
6.6
23
56
Z3231
NOMESCO Finland
Registered nurse
1.7
6.5
144
937
XKC03
NOMESCO Finland
Water cystometry
3.9
6.5
25
67
CE2W4
NOMESCO Finland
Eye movement mapping
70.7
6.4
7
*
R47.8
ICD-10 Finland
Other and unspecified speech disturbances
11.2
6.3
11
10
S01XA20
ATC
artificial tears and other indifferent preparations; ophthalmic
1.6
6.3
202
1460
8580/3-C37.9
ICD-O-3
Thymoma, NOS, of thymus
+∞
6.3
6
*
R5140
NOMESCO Finland
Monitoring the use of the aid
2.2
6.1
64
318
XCK00
NOMESCO Finland
Perimetry
2.6
6.0
43
177

Mortality – FinRegistry

Association

Association between endpoint G6_MYASTHENIA and mortality.

Females

Parameter HR [95% CI] p-value
G6_MYASTHENIA 1.455 [1.19, 1.78] < 0.001
Birth year 0.992 [0.98, 1.0] 0.096

During the follow-up period (1.1.1998 — 31.12.2019), 200 out of 993 females with G6_MYASTHENIA died.

Males

Parameter HR [95% CI] p-value
G6_MYASTHENIA 1.196 [1.01, 1.42] 0.04
Birth year 0.988 [0.98, 1.0] 0.013

During the follow-up period (1.1.1998 — 31.12.2019), 269 out of 1043 males with G6_MYASTHENIA died.

Mortality risk

Mortality risk for people of age

years, who have G6_MYASTHENIA.

N-year risk Females Males
1 0.116% 0.157%
5 0.643% 1.359%
10 1.895% 3.372%
15 3.606% 6.583%
20 6.362% 11.147%

Relationships between endpoints

Index endpoint: G6_MYASTHENIA – Myasthenia gravis

GWS hits: 1

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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