Other inherited muscular atrophy

G6_OTHINMUSC

amyotrophic lateral sclerosis: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

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Endpoint definition

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 G12.1
  • Hospital discharge: ICD-9 3351A
  • Cause of death: ICD-10 G12.1
  • Cause of death: ICD-9 3351A

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

51

4. Check minimum number of events

None

51

5. Include endpoints

None

51

6. Filter based on genotype QC (FinnGen only)

50

Control definitions (FinnGen only)

Control exclude G6_NEUATR

Extra metadata

Level in the ICD hierarchy 3
First used in FinnGen datafreeze DF2
Parent code in ICD-10 G12
Name in latin Alia atrophia musculorum spinalis congenita

Case counts by codes

FinnGen case counts by registry codes:

generic upset plot

Upset plot

Full data table

Summary Statistics

-FinRegistry-

Key figures

All Female Male
Number of individuals
Whole population 493 224 266
Only index persons 366 165 201
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 54.54 53.40 55.54
Only index persons 52.81 50.63 54.60

-FinnGen-

Key figures

All Female Male
Number of individuals 50 22 28
Unadjusted period prevalence (%) 0.01 0.01 0.02
Median age at first event (years) 51.15 47.34 54.14

-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

Relationships between endpoints

Index endpoint: G6_OTHINMUSC – Other inherited muscular atrophy

GWS hits: -

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