myoclonic dystonia 11
MONDO:0008044Mondo
Findings
No curated finding names myoclonic dystonia 11 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Any myoclonus-dystonia syndrome in which the cause of the disease is a mutation in the SGCE gene.
Definition from the Mondo Disease Ontology (MONDO:0008044), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance · Typified by incomplete penetrance
- Onset and course
- Juvenile onset · Childhood onset
HPO, annotations 2026-09-02
Features
16 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Decreased CSF 5-hydroxyindoleacetic acid concentrationHPOHP:0020020
- 4 of 4 reported patients
- DepressionHPOHP:0000716
- 2 of 2 reported patients
- Limb myoclonusHPOHP:0045084
- 4 of 4 reported patients
- MyoclonusHPOHP:0001336
- 37 of 37 reported patients
- TorticollisHPOHP:0000473
- 40 of 41 reported patients
- Writer's crampHPOHP:0002356
- 21 of 37 reported patients
- Arm dystoniaHPOHP:0031960
Show the remaining 4
- Addictive alcohol useHPOHP:0030955
- 3 of 39 reported patients
- Compulsive behaviorsHPOHP:0000722
- 1 of 37 reported patients
- Increased serum serotoninHPOHP:0003144
- 0 of 3 reported patients
- Obsessive-compulsive traitHPOHP:0008770
- 0 of 2 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- SGCEHGNC:10808
- Definitive · Ambry Genetics · Autosomal dominant · 2018
- Definitive · Illumina · Autosomal dominant · 2020
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
Where it sits
- A kind of
Other names
5 names
Resolves to: myoclonic dystonia 11
- Also called
- alcohol-responsive dystoniadystonia-11, myoclonicmyoclonic dystonia type 11myoclonus-dystonia syndrome caused by mutation in SGCESGCE myoclonus-dystonia syndrome