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Myoclonus-dystonia syndrome
1 OMIM reference -
4 associated genes
43 connected diseases
No signs/symptoms info
Disease Type of connection
Early-onset generalized limb-onset dystonia
Autosomal dominant nonsyndromic intellectual deficit
Acute encephalopathy with biphasic seizures and late reduced diffusion
Chronic intestinal pseudoobstruction
Congenital short bowel syndrome
Congenital valvular dysplasia
Ehlers-Danlos syndrome with periventricular heterotopia
Frontometaphyseal dysplasia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Periventricular nodular heterotopia
Terminal osseous dysplasia - pigmentary defects
Infantile dystonia-parkinsonism
Catecholaminergic polymorphic ventricular tachycardia
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures
Smith-Lemli-Opitz syndrome
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Parkinsonian-pyramidal syndrome
Progeria-associated arthropathy
Young adult-onset Parkinsonism
Auriculocondylar syndrome
Synonym(s):
- Alcohol-responsive dystonia
- DYT11
- Hereditary essential myoclonus
- Myoclonic dystonia
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: C536096
Gene symbol UniProt reference OMIM reference
DRD2 P14416126450
DYT15
SGCE O43556604149
TOR1A O14656605204
No signs/symptoms info available.