central core myopathy: An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)
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. |
65 |
4. Check minimum number of eventsNone |
65 |
5. Include endpointsNone |
65 |
6. Filter based on genotype QC (FinnGen only) |
65 |
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
- Myopathiae congenitae
Similar endpoints
↥List of similar endpoints to
Congenital myopathies
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 | 713 | 322 | 384 |
| Only index persons | 528 | 245 | 283 |
| Unadjusted period prevalence (%) | |||
| Whole population | 0.01 | 0.01 | 0.01 |
| Only index persons | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | |||
| Whole population | 40.42 | 42.53 | 38.30 |
| Only index persons | 39.02 | 40.01 | 38.17 |
-FinnGen-
Key figures
| All | Female | Male | |
|---|---|---|---|
| Number of individuals | 65 | 35 | 30 |
| Unadjusted period prevalence (%) | 0.01 | 0.01 | 0.01 |
| Median age at first event (years) | 45.01 | 39.27 | 51.72 |
-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
- 59
- Matched controls
- 591
Code
Vocabulary
Description
Odds Ratio
-log10(p)
N matched cases
N matched controls
G71.28
ICD-10 Finland
Other congenital myopathy
+∞
32.3
28
*
G72.9
ICD-10 Finland
Myopathy, unspecified
+∞
24.7
22
*
G71.25
ICD-10 Finland
Congenital muscular dystrophy NOS
+∞
22.3
20
*
Z31.5
ICD-10 Finland
Genetic counselling
36.0
14.4
18
7
G71.08
ICD-10 Finland
Other muscular dystrophy
+∞
14.1
13
*
G71.9
ICD-10 Finland
Primary disorder of muscle, unspecified
+∞
14.1
13
*
J96.1
ICD-10 Finland
Chronic respiratory failure
33.1
8.8
11
*
3590A
ICD-9 Finland
Muscular dystrophies and other myopathies, Congenital hereditary muscular dystrophy
+∞
8.5
8
*
33098
ICD-8 Finland
Hereditary neuromuscular disorders, Alii definiti
+∞
8.5
8
*
N99
ICPC
Neurological disease other
+∞
8.5
8
*
L28
ICPC
Limited function/disability (L)
7.5
7.8
19
35
G71.18
ICD-10 Finland
Other myotonic disease
+∞
7.4
7
*
G71.8
ICD-10 Finland
Other primary disorders of muscles
+∞
7.4
7
*
G71.21
ICD-10 Finland
Fibre type disproportion
+∞
7.4
7
*
SPAT1229
SPAT
Assessment of need for aid
11.5
7.2
13
14
N03AE01
ATC
clonazepam; systemic
13.2
6.6
11
10
Z3229
NOMESCO Finland
Other healthcare associate professional
8.4
6.5
14
21
N28
ICPC
Limited function/disability (N)
30.3
6.4
8
*
G71.02
ICD-10 Finland
Muscular dystrophy facioscapulohumeral
+∞
6.4
6
*
G71.00
ICD-10 Finland
Muscular dystrophy benign [Becker]
+∞
6.4
6
*
SPAT1230
SPAT
Aid fitting and borrowing and monitoring of use
5.5
6.2
19
47
R29.8
ICD-10 Finland
Other and unspecified symptoms and signs involving the nervous and musculoskeletal systems
7.6
6.2
14
23
Mortality – FinRegistry
↥Association
Association between endpoint G6_CONMYOP and mortality.
Females
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_CONMYOP | 5.957 [3.77, 9.41] | < 0.001 |
| Birth year | 0.995 [0.99, 1.0] | 0.315 |
During the follow-up period (1.1.1998 — 31.12.2019), 76 out of 239 females with G6_CONMYOP died.
Males
| Parameter | HR [95% CI] | p-value |
|---|---|---|
| G6_CONMYOP | 4.163 [2.81, 6.18] | < 0.001 |
| Birth year | 0.984 [0.97, 0.99] | 0.002 |
During the follow-up period (1.1.1998 — 31.12.2019), 92 out of 270 males with G6_CONMYOP died.
Mortality risk
Mortality risk for people of age
years, who have G6_CONMYOP.| N-year risk | Females | Males |
|---|---|---|
| 1 | 0.533% | 0.783% |
| 5 | 3.124% | 4.309% |
| 10 | 8.428% | 10.688% |
| 15 | 15.743% | 19.355% |
| 20 | 26.652% | 31.473% |
Relationships between endpoints
↥Index endpoint: G6_CONMYOP – Congenital myopathies
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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