ORPHA:36899

Myoclonus-dystonia syndrome

Synonyms: Alcohol-responsive dystonia · Hereditary essential myoclonus · Myoclonic dystonia

Myoclonus-dystonia syndrome (MDS) is a rare movement disorder characterized by mild to moderate dystonia along with 'lightning-like' myoclonic jerks.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Myoclonus-dystonia syndrome	Alcohol-responsive dystonia · Hereditary essential myoclonus · Myoclonic dystonia
fr	Dystonie myoclonique héréditaire	Dystonie sensible à l'alcool · Myoclonus-dystonie
de	Myoklonus-Dystonie-Syndrom	Dystonie, Alkohol-responsive · Hereditärer essentieller Myoklonus · Myoklone Dystonie
es	Síndrome de distonía-mioclonía	Distonía mioclónica · Distonía sensible al alcohol · Mioclono esencial hereditario
it	Sindrome mioclono-distonia	DYT11 · Distonia mioclonica · Distonia sensibile all'alcol · Mioclono essenziale ereditario
nl	Myoclonus - dystonie-syndroom	Alcoholresponsieve dystonie · Erfelijke essentiële myoclonus · Myoclonische dystonie
pt	Síndrome de mioclonia-distonia	Distonia sensível ao alcoól · Distonia-mioclonia · Mioclonia essencial hereditária
pl	Zespół mioklonie-dystonia	Dystonia miokloniczna · Dystonia reagująca na alkohol · DYT11 · Dziedziczne mioklonie
cs	Syndrom zahrnující myoklonus a dystonii	Alkohol-responzivní dystonie · DYT11 · Hereditární esenciální myoklonus · Myoklonická dystonie
uk	Синдром міоклонус-дистонії	Дистонія, що реагує на алкоголь · Спадковий есенціальний міоклонус · Міоклонічна дистонія
zh	肌阵挛性肌张力障碍	遗传性原发性肌阵挛
tr	Miyoklonus-distoni sendromu	Miyoklonik distoni · Alkole duyarlı distoni · Kalıtsal temel miyoklonus

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	159900	BTNT		validated
OMIM	616398	BTNT		validated
ICD-10	G24.1	NTBT	attributed	validated
ICD-11	8A02.11	NTBT	index	validated
MONDO	0000903	E		validated
MeSH	C536096	E		validated
UMLS	C1834570	E		validated
GARD	7139	E		validated
MedDRA	10084572	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (3):

No children.

Codes that Orphanet moved or referred to this one:

5 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
DRD2	Candidate gene tested in	Not yet assessed	HGNC:3023	ENSG00000149295	126450	11q23.2	dopamine receptor D2
TOR1A	Candidate gene tested in	Not yet assessed	HGNC:3098	ENSG00000136827	605204	9q34.11	torsin family 1 member A
KCTD17	Disease-causing germline mutation(s) in	Assessed	HGNC:25705	ENSG00000100379	616386	22q12.3	potassium channel tetramerization domain containing 17	25983243[PMID]
SGCE	Disease-causing germline mutation(s) in	Assessed	HGNC:10808	ENSG00000127990	604149	7q21.3	sarcoglycan epsilon
DYT15	Role in the phenotype of	Assessed	HGNC:31376			18p11	dystonia 15, myoclonic

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	1-9 / 1 000 000	—	Europe	Class only	Validated	ORPHANET

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

11 annotations · validated 2017-10-04

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001332	Dystonia	Diagnostic criterion
HP:0045084	Limb myoclonus
HP:0001336	Myoclonus	Diagnostic criterion
HP:0010531	Spinal myoclonus
Frequent (79-30%)
HP:0000739	Anxiety
HP:0000722	Compulsive behaviors	Diagnostic criterion
HP:0000716	Depression
HP:0025269	Panic attack
HP:0012075	Personality disorder
HP:0000473	Torticollis
HP:0002356	Writer's cramp

Annotation source: 20301587[PMID]_17853490[PMID]