Focal, segmental or multifocal dystonia

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Focal, segmental or multifocal dystonia

ORPHA:1866Category

What it is

A rare neurologic movement disorder characterized by sustained muscle contractions of a single body region, usually producing twisting and repetitive movements or abnormal postures or positions.

Key facts

Prevalence
1-5 / 10 000 (Serbia)
Age of onset
Adult
Inheritance
Autosomal dominant
Classified as
Category

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.

Genes reported in subtypes

ANO3CIZ1COL6A3DYT13DYT17GNALHPCAPDE10ATUBB4A

Orphanet records these genes on 9 more specific entries under this disorder, not on this entry itself:

A well-studied disease is usually split into subtypes, and the gene is curated on whichever one the evidence belongs to. Open a subtype to see which gene goes with it.

Cross-references

MONDO 0015990MONDO 15990UMLS C5680914

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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