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Other specified disorders of muscle

DOID EFO Endpoint Browser PheWeb

M13_MUSCLEDISNAS

myopathy: a disease of the muscle in which the muscle fibers do not function properly. This results in muscular weakness.

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Endpoint definition

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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 — M62.8, M62.9
  • Hospital discharge: ICD-9 — 728[8-9]
  • Hospital discharge: ICD-8 — 733
  • Hospital discharge: excluded ICD-8 — 733|777[0-1]|73390
  • Cause of death: ICD-10 — M62.8, M62.9
  • Cause of death: ICD-9 — 728[8-9]
  • Cause of death: ICD-8 — 733
  • Cause of death: excluded ICD-8 — 733|777[0-1]|73390

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

1034

4. Check minimum number of events

None

1034

5. Include endpoints

None

1034

6. Filter based on genotype QC (FinnGen only)

1001

Control definitions (FinnGen only)

Control exclude M13_SOFTTISSUE

Extra metadata

Level in the ICD hierarchy 4
First used in FinnGen datafreeze DF2

Case counts by codes

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FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

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-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 9189 3986 5122
Only index persons 7812 3527 4285
Unadjusted period prevalence (%)
Whole population 0.13 0.11 0.14
Only index persons 0.15 0.13 0.16
Median age at first event (years)
Whole population 42.20 47.51 37.87
Only index persons 38.80 45.33 33.43

-FinnGen-

Key figures

All Female Male
Number of individuals 1001 514 487
Unadjusted period prevalence (%) 0.22 0.20 0.24
Median age at first event (years) 41.52 43.43 39.50

-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

Mortality – FinRegistry

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Association

Association between endpoint M13_MUSCLEDISNAS and mortality.

Females

Parameter HR [95% CI] p-value
M13_MUSCLEDISNAS 1.523 [1.23, 1.88] < 0.001
Birth year 0.996 [0.99, 1.0] 0.35

During the follow-up period (1.1.1998 — 31.12.2019), 229 out of 1423 females with M13_MUSCLEDISNAS died.

Males

Parameter HR [95% CI] p-value
M13_MUSCLEDISNAS 1.778 [1.42, 2.23] < 0.001
Birth year 0.986 [0.98, 1.0] 0.009

During the follow-up period (1.1.1998 — 31.12.2019), 278 out of 1426 males with M13_MUSCLEDISNAS died.

Mortality risk

Mortality risk for people of age

years, who have M13_MUSCLEDISNAS.

N-year risk Females Males
1 0.127% 0.334%
5 0.75% 2.097%
10 2.016% 5.547%
15 4.304% 10.075%
20 7.466% 15.835%

Relationships between endpoints

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Index endpoint: M13_MUSCLEDISNAS – Other specified disorders of muscle

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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