Progressive external ophthalmoplegia

H7_PROGEXTOPHTHALMOPLEGIA

progressive external ophthalmoplegia: A mitochondrial myopathy characterized by slowly progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. Ragged-red fibers and atrophy are found on muscle biopsy. Familial and sporadic forms may occur. Disease onset is usually in the first or second decade of life, and the illness slowly progresses until usually all ocular motility is lost. (From Adams et al., Principles of Neurology, 6th ed, p1422)

Endpoint definition

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FinnGen phenotype data

321302 individuals

Apply sex-specific rule None

321302

Check conditions None

321302

Filter registries

Hospital Discharge: ICD-10 H49.4

Hospital discharge: ICD-9 $!$

Hospital discharge: ICD-8 $!$

Cause of death: ICD-10 H49.4

Cause of death: ICD-9 $!$

Cause of death: ICD-8 $!$

Check pre-conditions, main-only, mode, ICD version

Look only at ICD versions H.D: 10, 8, 9 ; C.O.D: 10, 8, 9

Check minimum number of events None

Include endpoints None

H7_PROGEXTOPHTHALMOPLEGIA

Extra metadata

Level in the ICD hierarchy 4

First used in FinnGen datafreeze DF2

Parent code in ICD-10 H49

Name in latin Ophthalmoplegia externa progressiva

Similar endpoints

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List of similar endpoints to Progressive external ophthalmoplegia based on the number of shared cases.

Broader endpoints:

Narrower endpoints:

None

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Summary Statistics

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Key figures

	All	Female	Male
Number of individuals	15	10	5
Unadjusted prevalence (%)	0.00	0.01	0.00
Mean age at first event (years)	47.87	52.49	38.63

Mortality

Follow-up	Absolute risk	HR [95% CI]	p	N
1998–2019	-	-	-	-
15 years	-	-	-	-
5 years	-	-	-	-
1 year	-	-	-	-

Age distribution of first events

Year distribution of first events

Cumulative Incidence

Correlations

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Index endpoint: H7_PROGEXTOPHTHALMOPLEGIA – Progressive external ophthalmoplegia
GWS hits:

Survival analyses between endpoints

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Plot

before Progressive external ophthalmoplegia
after Progressive external ophthalmoplegia

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Table

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Drugs most likely to be purchased after Progressive external ophthalmoplegia

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