Caring for someone with this diagnosis? Eleplan keeps diagnoses, medications, documents and every specialist in one plan.
Start free with EleplanDystonia 28
ORPHA:589618Disease
Also called DYT28 · KMT2B-related dystonia
What it is
A rare persistent combined dystonia characterized by childhood onset of progressive dystonia typically beginning in the lower limbs and eventually progressing to generalized dystonia with involvement of the upper limbs, trunk, face, and neck. Variable developmental delay and intellectual disability, as well as mild microcephaly, short stature, abnormal eye movements, and slightly dysmorphic facial features have been reported in association.
Key facts
- Age of onset
- Childhood, Infancy
- Inheritance
- Autosomal dominant
- Classified as
- Disease
Signs and symptoms
Very common80–99%
2Common30–79%
8Sometimes5–29%
15- Abnormal pyramidal sign
- Anarthria
- Anxiety
- Arm dystonia
- Attention deficit hyperactivity disorder
- Autistic behavior
- Bulbous nose
- Clinodactyly of the 5th finger
and 7 more in this range
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
ICD-10 codes
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
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.