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Muscular dystrophy

DOID EFO Endpoint Browser PheWeb

G6_MUSDYST

obsolete_muscular dystrophy: ['An atrophic muscular disease that causes progressive weakness and degeneration of skeletal muscles used during voluntary movement.']

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Endpoint definition

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Endpoint definition steps

FinnGen

Phenotype data

429209

1. Apply sex-specific rule

None

429209

2. Check conditions

None

429209

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

Registry filters:

  • Hospital discharge: ICD-10 — G71.0
  • Hospital discharge: ICD-9 — 3591A
  • Hospital discharge: ICD-8 — 33030|33090
  • Cause of death: ICD-10 — G71.0
  • Cause of death: ICD-9 — 3591A
  • Cause of death: ICD-8 — 33030|33090

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

233

4. Check minimum number of events

None

233

5. Include endpoints

None

233

6. Filter based on genotype QC (FinnGen only)

221

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)

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 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 221 115 106
Unadjusted period prevalence (%) 0.05 0.05 0.06
Median age at first event (years) 50.60 52.62 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

Mortality – FinRegistry

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Relationships between endpoints

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Index endpoint: G6_MUSDYST – Muscular dystrophy

GWS hits: 6

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