Rare diseases · Sign or symptom
Limb dystonia
HP:0002451
What it means
A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.
Rare diseases that can present with this35
Very common80–99%
3Common30–79%
21- Alobar holoprosencephaly
- Atypical pantothenate kinase-associated neurodegeneration
- Autosomal dominant dopa-responsive dystonia
- Autosomal dominant focal dystonia, DYT25 type
- Autosomal recessive dopa-responsive dystonia
- Choreoacanthocytosis
- Combined oxidative phosphorylation defect type 13
- Corticobasal syndrome
- Cranio-cervical dystonia with laryngeal and upper-limb involvement
- Filippi syndrome
- Hemidystonia-hemiatrophy syndrome
- MEPAN syndrome
- Midline interhemispheric variant of holoprosencephaly
- Niemann-Pick disease type C
- Pantothenate kinase-associated neurodegeneration
- Primary dystonia, DYT13 type
- Primary dystonia, DYT27 type
- Primary dystonia, DYT2 type
- Rapid-onset dystonia-parkinsonism
- Semilobar holoprosencephaly
- WARS2-related combined oxidative phosphorylation defect
Sometimes5–29%
7The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.
Part of the broader category
Tracking symptoms like this for someone? Eleplan keeps symptoms, diagnoses, medications and every specialist in one plan.
Start free with EleplanThis page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.