obsolete_muscular dystrophy: ['An atrophic muscular disease that causes progressive weakness and degeneration of skeletal muscles used during voluntary movement.']
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. |
282 |
4. Check minimum number of eventsNone |
282 |
5. Include endpointsNone |
282 |
6. Filter based on genotype QC (FinnGen only) |
282 |
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
- Dystrophia musculorum (progressiva hereditaria)
Similar endpoints
↥List of similar endpoints to
Muscular dystrophy
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 | 2432 | 1004 | 1402 |
| Only index persons | 1905 | 851 | 1054 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.03 | 0.03 | 0.04 |
| Only index persons | 0.04 | 0.03 | 0.04 |
| Median age at first event (years) | |||
| Whole population | 41.20 | 48.93 | 35.53 |
| Only index persons | 44.75 | 49.50 | 40.91 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 282 | 144 | 138 |
| Unadjusted period prevalence (%) | 0.05 | 0.05 | 0.06 |
| Median age at first event (years) | 50.63 | 52.77 | 48.40 |
-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
- 257
- Matched controls
- 2572
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
221.0
179
*
G72.9
ICD-10 Finland
Myopathy, unspecified
+∞
79.4
72
*
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
+∞
57.5
53
*
G71.00
ICD-10 Finland
Muscular dystrophy benign [Becker]
+∞
55.2
51
*
Z31.5
ICD-10 Finland
Genetic counselling
16.6
44.3
74
61
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
36.3
34
*
G71.0
ICD-10 Finland
Muscular dystrophy
+∞
30.8
29
*
G71.06
ICD-10 Finland
Muscular dystrophy severe [Duchenne]
+∞
30.8
29
*
NJ3CG
NOMESCO Finland
Extensive MRI examination of extremities with median high magnet
175.4
30.4
31
*
R1250
NOMESCO Finland
Evaluation of functional capability
18.2
25.1
39
25
G71.02
ICD-10 Finland
Muscular dystrophy facioscapulohumeral
+∞
24.4
23
*
G72.8
ICD-10 Finland
Other specified myopathies
+∞
23.3
22
*
G71.11
ICD-10 Finland
Dystrophia myotonica [Steinert]
+∞
23.3
22
*
G71.03
ICD-10 Finland
Muscular dystrophy autosomal recessive, childhood type, resembling Duchenne or Becker
+∞
23.3
22
*
NXL00
NOMESCO Finland
Biopsy of muscle
+∞
22.2
21
*
3591A
ICD-9 Finland
Muscular dystrophies and other myopathies, Hereditary progressive muscular dystrophy
+∞
21.1
20
*
J96.1
ICD-10 Finland
Chronic respiratory failure
22.1
18.1
26
13
R5110
NOMESCO Finland
Evaluation of the need for aids, the testing, fitting and choice of the aid, instruction in use and delivery of it
5.0
17.5
61
150
NJ3BG
NOMESCO Finland
MRI examination of extremities with high intensity magnet
53.9
17.2
20
*
L28
ICPC
Limited function/disability (L)
4.4
17.0
68
193
N99
ICPC
Neurological disease other
23.9
15.8
22
10
M60.9
ICD-10 Finland
Myositis, unspecified
85.1
14.7
16
*
33030
ICD-8 Finland
Hereditary neuromuscular disorders, Progressive muscular dystrophy
+∞
14.7
14
*
G71.25
ICD-10 Finland
Congenital muscular dystrophy NOS
+∞
14.7
14
*
SPAT1229
SPAT
Assessment of need for aid
5.8
14.5
42
83
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
5.1
14.4
47
107
G71.18
ICD-10 Finland
Other myotonic disease
+∞
13.7
13
*
Z3226
NOMESCO Finland
Physiotherapist
3.3
13.4
82
323
XF404
NOMESCO Finland
Ambulatory ECG
4.9
13.1
44
103
R4110
NOMESCO Finland
Physiotherapy
2.8
11.8
93
430
Z03.5
ICD-10 Finland
Observation for other suspected cardiovascular diseases
4.6
11.5
41
102
Z50.1
ICD-10 Finland
Other physical therapy
5.8
11.0
31
59
L99
ICPC
Musculoskeletal disease other
11.3
11.0
20
19
NGA20
NOMESCO Finland
Exploration of soft tissue knee or lower leg, open
62.6
10.7
12
*
G71.28
ICD-10 Finland
Other congenital myopathy
+∞
10.5
10
*
G71.12
ICD-10 Finland
Myotonia congenita
+∞
10.5
10
*
Z46.8
ICD-10 Finland
Fitting and adjustment of other specified devices
10.2
10.5
20
21
N18
ICPC
Paralysis/weakness
12.0
10.2
18
16
A28
ICPC
Limited function/disability NOS
3.5
10.2
49
160
Z03.3
ICD-10 Finland
Observation for suspected nervous system disorder
5.2
10.1
31
66
XF400
NOMESCO Finland
ECG with 12 standard connections
3.1
10.0
60
230
M62.9
ICD-10 Finland
Disorder of muscle, unspecified
31.3
9.5
12
*
33098
ICD-8 Finland
Hereditary neuromuscular disorders, Alii definiti
+∞
9.4
9
*
G71.3
ICD-10 Finland
Mitochondrial myopathy, not elsewhere classified
+∞
9.4
9
*
L19
ICPC
Muscle symptom/complaint NOS
7.9
9.1
20
27
N28
ICPC
Limited function/disability (N)
14.7
8.8
14
10
WX1PA
NOMESCO Finland
Total body mineral density measurement with Dual energy X-ray absorptiometry (DXA)
51.8
8.7
10
*
FM1AE
NOMESCO Finland
Standard cardiac ultrasound examination
2.8
8.7
60
251
M60.8
ICD-10 Finland
Other myositis
92.9
8.5
9
*
Z99.1
ICD-10 Finland
Dependence on respirator
+∞
8.4
8
*
I42.0
ICD-10 Finland
Dilated cardiomyopathy
8.6
8.2
17
21
M41.4
ICD-10 Finland
Neuromuscular scoliosis
82.3
7.5
8
*
S72.4
ICD-10 Finland
Fracture of lower end of femur
82.3
7.5
8
*
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
2.7
7.4
53
226
Z50.8
ICD-10 Finland
Care involving use of other rehabilitation procedures
3.7
7.4
32
96
H02AB13
ATC
deflazacort; oral
+∞
7.3
7
*
R13
ICD-10 Finland
Dysphagia
4.1
7.1
27
72
R5140
NOMESCO Finland
Monitoring the use of the aid
3.1
6.6
37
133
N29
ICPC
Neurological sympt/complt other
10.4
6.6
12
12
I42.9
ICD-10 Finland
Cardiomyopathy, unspecified
10.4
6.6
12
12
FM1EE
NOMESCO Finland
Extensive structural and functional ultrasound examination of heart
2.3
6.5
63
312
G12.1
ICD-10 Finland
Other inherited spinal muscular atrophy
71.5
6.5
7
*
M33.2
ICD-10 Finland
Polymyositis
71.5
6.5
7
*
ZXE17
NOMESCO Finland
Procedure duration 150 to 179 minutes
9.6
6.4
12
13
RK410
NOMESCO Finland
NA
+∞
6.3
6
*
G71.1
ICD-10 Finland
Myotonic disorders
+∞
6.3
6
*
NJ3DG
NOMESCO Finland
Very extensive MRI examination of extremities with high intensity magnet
+∞
6.3
6
*
Z3229
NOMESCO Finland
Other healthcare associate professional
3.0
6.1
34
123
Mortality – FinRegistry
↥Association
Association between endpoint G6_MUSDYST and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_MUSDYST | 2.114 [1.67, 2.68] | < 0.001 |
| Birth year | 0.992 [0.98, 1.0] | 0.093 |
During the follow-up period (1.1.1998 — 31.12.2019), 115 out of 684 females with G6_MUSDYST died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_MUSDYST | 1.948 [1.55, 2.44] | < 0.001 |
| Birth year | 0.989 [0.98, 1.0] | 0.019 |
During the follow-up period (1.1.1998 — 31.12.2019), 174 out of 857 males with G6_MUSDYST died.
Mortality risk
Mortality risk for people of age
years, who have G6_MUSDYST.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.191% | 0.467% |
| 5 | 1.208% | 2.381% |
| 10 | 3.093% | 5.877% |
| 15 | 5.646% | 10.977% |
| 20 | 9.656% | 18.189% |
Relationships between endpoints
↥Index endpoint: G6_MUSDYST – Muscular dystrophy
GWS hits: 20
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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