Early-onset generalized limb-onset…

Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.

Start free with Eleplan

Early-onset generalized limb-onset dystonia

ORPHA:256Disease

Also called Dystonia musculorum deformans · EOTD · Early-onset generalized torsion dystonia · Early-onset isolated dystonia · Early-onset primary dystonia · Early-onset torsion dystonia · Idiopathic torsion dystonia · Oppenheim dystonia

What it is

A rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures that typically begins in a single limb and, in most individuals, followed by progressive involvement of other limbs and the trunk, typically sparing the cranial and cervical region.

Key facts

Prevalence
1-9 / 1 000 000 (Europe)
Age of onset
Adolescent, Adult, Childhood
Inheritance
Autosomal dominant
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.

Genes

EIF2AK2Disease-causing germline mutation(s)
SHQ1Disease-causing germline mutation(s)
TOR1ADisease-causing germline mutation(s)

ICD-10 codes

G24.1ICD-10 names this disease exactly — shared with 18 other rare diseases

ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.

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

GARD 2027MEDDRA 10076668MONDO 0007492OMIM 128100OMIM 602554OMIM 619687UMLS C3888090

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.

Powered by Eleplan

A rare diagnosis is just the start. Eleplan keeps the whole care plan in one place.

Diagnoses, medications, documents, appointments, and the whole care team — organized and always in sync, so you are not retelling the same story to every new specialist. With Ellie, your AI care assistant, on top of it. Free to start.