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Other extrapyramidal and movement disorders in other diseases

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G6_XTRAPYROTH

Stiff-Person syndrome: Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.

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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 — G25, G26*
  • Hospital discharge: ICD-9 — 333
  • Hospital discharge: excluded ICD-9 — 3330|3336
  • Cause of death: ICD-10 — G25, G26*
  • Cause of death: ICD-9 — 333
  • Cause of death: excluded ICD-9 — 3330|3336

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

5309

4. Check minimum number of events

None

5309

5. Include endpoints

7023

6. Filter based on genotype QC (FinnGen only)

6809

Control definitions (FinnGen only)

Control exclude G6_XTRAPYR

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF10

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 57572 32364 24873
Only index persons 52038 29908 22130
Unadjusted period prevalence (%)
Whole population 0.82 0.93 0.69
Only index persons 0.99 1.10 0.84
Median age at first event (years)
Whole population 66.04 66.60 65.27
Only index persons 65.34 65.93 64.55

-FinnGen-

Key figures

All Female Male
Number of individuals 6809 3956 2853
Unadjusted period prevalence (%) 1.66 1.72 1.57
Median age at first event (years) 63.73 61.92 66.25

-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_XTRAPYROTH – Other extrapyramidal and movement disorders in other diseases

GWS hits: 4

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