Benign paroxysmal torticollis of infancy

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Benign paroxysmal torticollis of infancy

ORPHA:71518Disease

What it is

A rare, transient paroxysmal dystonia characterized by onset of recurrent episodes of torticollis posturing of the head between infancy and early-childhood.

Key facts

Prevalence
<1 / 1 000 000
Age of onset
Childhood, Infancy, Neonatal
Inheritance
Autosomal dominant, Not applicable, Unknown
Classified as
Disease

Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.

Signs and symptoms

These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.

Gene

CACNA1ADisease-causing germline mutation(s)

ICD-10 codes

G24.3filed under a broader ICD-10 category

Related health topics

Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.

Cross-references

MONDO 0019113UMLS C3494934

Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.

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