Myoclonus-dystonia malady

Genetics Home Reference: Myoclonus-dystonia is a movement disorder that typically affects the upper half of the body. Individuals with this condition experience quick, involuntary muscle jerking or twitching (myoclonus) that usually affects their arms, neck, and trunk. Less frequently, the legs are involved as well. More than half of affected individuals also develop dystonia, which is a pattern of involuntary muscle contractions that causes twisting and pulling movements of specific body parts. The dystonia associated with myoclonus-dystonia may affect a single part of the body, causing isolated problems such as a writer's cramp in the hand, or it may involve multiple areas of the body. Rarely, people with this condition have dystonia as their only symptom.¹⁷

MalaCards: Myoclonus-dystonia, also known as myoclonic dystonia, is related to torsion dystonia and focal dystonia. An important gene associated with Myoclonus-dystonia is SGCE (sarcoglycan, epsilon), and among its related pathways are Amine ligand-binding receptors and Neuroactive ligand-receptor interaction. The compounds talipexole and amisulpride have been mentioned in the context of this disorder. Affiliated tissues include brain, and related mouse phenotype behavior/neurological.

Wikipedia: Myoclonic distonia or Myoclonus-dystonia syndrome is a rare syndrome having several subforms each traced...⁴⁴ more...

OMIM: 159900

GeneReviews summary for myo-dystonia

myoclonus-dystonia 15 30 17 myoclonic dystonia 15 30 16 17 32 43 hereditary essential myoclonus 15 30 17 dystonia 11 15 30 16 dyt11 30 16 17 myoclonus, hereditary essential 30 16

myoclonus-dystonia syndrome 30 16 dystonia, alcohol responsive 30 alcohol-responsive dystonia 17 dystonia, myoclonic 33 dystonia disorders 43

Diseases related to myoclonus-dystonia by text searches and GeneDecks gene sharing:

(show top 50)    (show all 377)

id	Related Disease	Score	Top Affiliating Genes
1	torsion dystonia	34.4	TOR1A, GCH1
2	focal dystonia	33.2	TOR1A, DRD2, SGCE
3	early-onset primary dystonia (dyt1)	31.7	TOR1A, GCH1, SGCE
4	dystonia musculorum deformans	31.6	GCH1, TOR1A
5	myoclonus	31.3	UBC, CASD1, DYT15, DRD2, DRD3, DRD4
6	familial dystonia	30.4	SGCE, TOR1A
7	sepiapterin reductase deficiency	29.9	DRD2, GCH1
8	benign hereditary chorea	29.3	NKX2-1, SGCE
9	blepharospasm	29.0	TOR1A, GCH1
10	chorea	28.9	SGCE, TOR1A, NKX2-1
11	paine syndrome	28.8	DRD2, GCH1, SGCE
12	tremor	28.7	SGCE, DRD2, DRD3
13	complex regional pain syndrome	28.3	SGCE, GCH1, DRD2
14	alcoholism	27.9	DRD2, DRD3, DRD4
15	alcohol dependence	27.5	DRD4, DRD3, DRD2, SGCE
16	olivopontocerebellar atrophy	27.5	SGCE, UBC, DRD2
17	obsessive-compulsive disorder	27.0	SGCE, DRD2, DRD3, DRD4, TOR1A
18	bipolar affective disorder	26.7	DRD2, DRD3, DRD4
19	parkinson's disease	26.6	TOR1A, DRD4, DRD3, DRD2, UBC, GCH1
20	tourette syndrome	26.4	TOR1A, DRD4, DRD3, DRD2, GCH1, SGCE
21	cerebritis	24.6	NKX2-1, TOR1A, DRD4, DRD3, DRD2, UBC
22	major depressive disorder	24.3	DRD2, DRD3, DRD4
23	mood disorder	24.2	DRD2, DRD3, DRD4
24	dementia	24.0	NKX2-1, DRD4, DRD3, DRD2
25	bipolar disorder	23.6	DRD4, DRD3, DRD2, GCH1
26	neuroblastoma	22.6	UBC, CASD1, DRD2, DRD3, DRD4
27	schizophrenia	22.6	DRD4, DRD3, DRD2, UBC, GCH1, SGCE
28	opiate dependence	12.9	DRD3, DRD2
29	drug addiction	12.8	DRD2, DRD3
30	tic disorder	12.7	DRD4, DRD2
31	novelty seeking personality	12.7	DRD4, DRD2
32	antisocial personality disorder	12.7	DRD2, DRD4
33	gilles de la tourette syndrome	12.5	SGCE, DRD2, DRD4
34	delusional disorder	12.5	DRD4, DRD3
35	heroin dependence	12.4	DRD4, DRD2
36	ppm-x syndrome	12.4	DRD2, DRD4
37	attention deficit hyperactivity disorder	12.3	DRD2, DRD4
38	dyskinesia of esophagus	12.2	DRD3, DRD2
39	neurotic disorder	12.2	DRD2, DRD3, DRD4
40	pathological gambling	12.2	DRD4, DRD3, DRD2
41	manic-depressive illness	12.2	DRD2, DRD3, DRD4
42	personality disorder	12.2	DRD4, DRD3, DRD2
43	migraine without aura	12.2	DRD2, DRD3, DRD4
44	cocaine dependence	12.2	DRD4, DRD3, DRD2
45	substance dependence	12.2	DRD4, DRD3, DRD2
46	growth mental deficiency syndrome of myhre	12.2	DRD4, DRD3, DRD2
47	restless legs syndrome	12.1	DRD2, DRD3, DRD4
48	substance abuse	12.1	DRD2, DRD3, DRD4
49	dyslexia	12.1	DRD2, DRD3, DRD4
50	tardive dyskinesia	12.1	DRD2, DRD3, DRD4

Clinical features from OMIM: 159900

Approved drugs:

Drug clinical trials:

Genetic tests related to myoclonus-dystonia:

id	Genetic test	Affiliating Genes
1	Myoclonus-dystonia clinical/research	SGCE

MalaCards organs/tissues related to myoclonus-dystonia:

²²

MGI Mouse Phenotypes related to myoclonus-dystonia:

²⁵

id	Description	MGI Source Accession	Score	Top Affiliating Genes
1	behavior/neurological phenotype	MP:0005386	7.5	SGCE, DRD2, DRD3, DRD4, TOR1A, NKX2-1

Articles related to myoclonus-dystonia:

(show all 50)

id	Title	Authors	Year	Affiliating Genes
1	Bilateral deep brain stimulation of the pallidum for myoclonus-dystonia due to I/-sarcoglycan mutations: a pilot study. (21220679)	Azoulay-Zyss J.... Grabli D.	2011	SGCE
2	Familial 7q21.3 microdeletion involving epsilon-sarco glycan causing myoclonus dystonia, cognitive impairment, and psychosis. (21425342)	Dale R.C.... Peters G.B.	2011	SGCE
3	Functional magnetic resonance imaging evidence of inc omplete maternal imprinting in myoclonus-dystonia. (21320983)	Beukers R.J.... Tijssen M.A.	2011	SGCE
4	SGCE isoform characterization and expression in human brain: implications for myoclonus-dystonia pathogenesis? (21157498)	Ritz K.... Baas F.	2011	SGCE
5	A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse epsilon- sarcoglycan in the late secretory pathway. (21796726)	Waite A.... Blake D.J.	2011	SGCE
6	Myoclonus dystonia plus syndrome due to a novel 7q21 microdeletion. (20425829)	Saugier-Veber P.... Roze E.	2010	SGCE
7	Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. (19913450)	Foncke E.M.... Tijssen M.A.	2010	SGCE
8	Disorganized sensorimotor integration in mutation-pos itive myoclonus-dystonia: a functional magnetic resonance imaging study. (20385914)	Beukers R.J.... Tijssen M.A.	2010	SGCE
9	Reduced striatal D2 receptor binding in myoclonus-dystonia. (18719906)	Beukers R.J.... Tijssen M.A.	2009	DRD2
10	Pediatric writer's cramp in myoclonus-dystonia: maternal imprinting hides positive family history. (18571946)	Gerrits M.C.... Tijssen M.A.	2009	SGCE
11	Is psychopathology part of the phenotypic spectrum of myoclonus-dystonia?: a study of a large Dutch M-D family. (19506430)	Foncke E.M.... Tijssen M.	2009	SGCE
12	A novel mutation of the epsilon-sarcoglycan gene in a Chinese family with myoclonus-dystonia syndrome. (18581468)	Chen X.P.... Shang H.F.	2008	SGCE
13	Cortical excitability in DYT-11 positive myoclonus dystonia. (18265016)	.... Trocello J.M.	2008	SGCE
14	Myoclonus-dystonia: clinical and electrophysiologic pattern related to SGCE mutations. (18362280)	Roze E.... Vidailhet M.	2008	SGCE
15	Myoclonus-Dystonia: clinical and genetic evaluation of a large cohort. (19066193)	Ritz K.... Tijssen M.A.	2008	SGCE, TOR1A
16	No muscle involvement in myoclonus-dystonia caused by epsilon-sarcoglycan gene mutations. (18355305)	Hjermind L.E.... Nielsen J.E.	2008	SGCE
17	A neurophysiological study of myoclonus in patients with DYT11 myoclonus-dystonia syndrome. (18759336)	Marelli C.... Franceschetti S.	2008	SGCE
18	Phenotypic spectrum and sex effects in eleven myoclonus-dystonia families with epsilon-sarcoglycan mutations. (18175340)	Raymond D.... Bressman S.	2008	SGCE
19	Myoclonus-dystonia: significance of large SGCE deletions. (18205193)	Grunewald A.... Klein C.	2008	SGCE
20	Myoclonus-dystonia due to maternal uniparental disomy. (18852357)	Guettard E.... Roze E.	2008	SGCE
21	Novel SGCE gene mutation in a Korean patient with myoclonus-dystonia with unique phenotype mimicking Moya-Moya disease. (17394247)	Chung E.J.... Kim I.S.	2007	SGCE
22	Myoclonus-dystonia, obsessive-compulsive disorder, and alcohol dependence in SGCE mutation carriers. (17296918)	Hess C.W.... Saunders-Pullman R.	2007	SGCE
23	Clinical differentiation of genetically proven benign hereditary chorea and myoclonus-dystonia. (17702043)	Asmus F.... Chinnery P.F.	2007	SGCE, NKX2-1
24	Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. (17702041)	Orth M.... Munchau A.	2007	DRD2, SGCE, TOR1A
25	SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. (17200151)	Esapa C.T.... Blake D.J.	2007	UBC, SGCE, TOR1A
26	Novel and de novo mutations of the SGCE gene in Brazilian patients with myoclonus-dystonia. (17394244)	Borges V.... Ozelius L.J.	2007	SGCE
27	Myoclonus-dystonia syndrome with severe depression is caused by an exon-skipping mutation in the epsilon-sarcoglycan gene. (17230465)	Misbahuddin A.... Warner T.T.	2007	SGCE
28	Phenotype-genotype correlation in Dutch patients with myoclonus-dystonia. (16534121)	Gerrits M.C.... Tijssen M.A.	2006	SGCE
29	Myoclonus-dystonia due to genomic deletions in the epsilon-sarcoglycan gene. (16240355)	Asmus F.... Gasser T.	2005	SGCE
30	Myoclonus-dystonia: detection of novel, recurrent, and de novo SGCE mutations. (15079037)	Hedrich K.... Klein C.	2004	SGCE
31	Deep brain stimulation in myoclonus-dystonia syndrome. (15197720)	Cif L.... Coubes P.	2004	SGCE
32	Genetic heterogeneity in ten families with myoclonus-dystonia. (15258227)	Schule B.... Kostic V.	2004	SGCE
33	Clinical and genetic features of myoclonus-dystonia in 3 cases: a video presentation. (14978685)	Kock N.... Klein C.	2004	SGCE
34	Inherited myoclonus-dystonia and epilepsy: further evidence of an association? (15389977)	O'Riordan S.... Lynch T.	2004	SGCE
35	Analysis of the epsilon-sarcoglycan gene in familial and sporadic myoclonus-dystonia: evidence for genetic heterogeneity. (14502674)	Valente E.M.... Warner T.T.	2003	SGCE
36	Mutations in the epsilon-sarcoglycan gene found to be uncommon in seven myoclonus-dystonia families. (12874409)	Han F.... Grimes D.A.	2003	SGCE
37	Hereditary myoclonus-dystonia associated with epilepsy. (12821748)	Foncke E.M.... Tijssen M.A.	2003	SGCE
38	Severe myoclonus-dystonia syndrome associated with a novel epsilon-sarcoglycan gene truncating mutation. (12707948)	Marechal L.... Hannequin D.	2003	SGCE
39	The epsilon-sarcoglycan gene (SGCE), mutated in myoclonus-dystonia syndrome, is maternally imprinted. (12634861)	Grabowski M.... Strom T.M.	2003	SGCE
40	Clinical findings of a myoclonus-dystonia family with two distinct mutations. (12391355)	Doheny D.... Silverman J.M.	2002	SGCE, TOR1A
41	Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. (12391354)	Leuzzi V.... Antonozzi I.	2002	GCH1
42	Myoclonus-dystonia syndrome: epsilon-sarcoglycan mutations and phenotype. (12325078)	Asmus F.... Gasser T.	2002	SGCE
43	Phenotypic features of myoclonus-dystonia in three kindreds. (12391346)	Doheny D.O.... Silverman J.M.	2002	SGCE
44	Evidence that paternal expression of the epsilon-sarcoglycan gene accounts for reduced penetrance in myoclonus-dystonia. (12444570)	Muller B.... Klein C.	2002	SGCE
45	A novel locus for inherited myoclonus-dystonia on 18p11. (12391345)	Grimes D.A.... Bulman D.E.	2002	DYT15
46	Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome. (11528394)	Zimprich A.... Gasser T.	2001	GCH1, SGCE, TOR1A
47	Evaluation of the role of the D2 dopamine receptor in myoclonus dystonia. (10716258)	Klein C.... Sealfon S.C.	2000	DRD2
48	Localization of a gene for myoclonus-dystonia to chromosome 7q21-q31. (10554001)	Nygaard T.G.... Bressman S.B.	1999	SGCE
49	Association of a missense change in the D2 dopamine receptor with myoclonus dystonia. (10220438)	Klein C.... Ozelius L.J.	1999	DRD2
50	Myoclonus-Dystonia (20301587)	Raymond D.... Ozelius L.	1993	DRD2, SGCE

Genes related to myoclonus-dystonia according to GeneCards:

id	Symbol	Description	Score	GeneCards Section Context
1	SGCE	sarcoglycan, epsilon	11.1	Publications, Summaries
2	DRD2	dopamine receptor D2	11.1	Summaries, Publications, Orthologs
3	DYT15	dystonia 15, myoclonic	11.0	Publications
4	TOR1A	torsin family 1, member A (torsin A)	11.0	Publications
5	CASD1	CAS1 domain containing 1	11.0	Publications
6	GCH1	GTP cyclohydrolase 1	11.0	Publications
7	NKX2-1	NK2 homeobox 1	11.0	Publications
8	DRD3	dopamine receptor D3	11.0	Orthologs
9	DRD4	dopamine receptor D4	11.0	Orthologs
10	UBC	ubiquitin C	11.0	Publications

Pathways related to myoclonus-dystonia according to GeneDecks:

id	Pathway	Score	Top Affiliating Genes
1	Amine ligand-binding receptors38	8.8	DRD4, DRD3, DRD2
2	Neuroactive ligand-receptor interaction20	8.7	DRD4, DRD3, DRD2
3	Nicotine Pathway (Dopaminergic Neuron), Pharmacodynamics34	8.6	DRD3, DRD2, DRD4
4	Dopamine-DARPP32 Feedback onto cAMP Pathway36	8.4	DRD4, DRD3, DRD2
5	CDK5 Pathway36	8.2	UBC, DRD2, DRD3, DRD4

Compounds related to myoclonus-dystonia according to GeneDecks:

(show top 50)    (show all 52)

id	Compound	Score	Top Affiliating Genes
1	talipexole32	9.9	DRD3, DRD2
2	amisulpride32 9 9	11.9	DRD2, DRD3
3	Chlorprothixene9 9	10.8	DRD2, DRD3
4	pimozide32 34 9 9	12.8	DRD3, DRD2
5	amantadine32 9 9	11.7	DRD3, DRD2
6	Thiethylperazine9 9	10.7	DRD4, DRD2
7	melperone32	9.7	DRD2, DRD4
8	spiperone32	9.7	DRD2, DRD4
9	loxapine32 9 9	11.7	DRD2, DRD4
10	domperidone32 9 9	11.6	DRD3, DRD2
11	fluphenazine32 9 9	11.6	DRD2, DRD4
12	Propiomazine9 9	10.6	DRD4, DRD2
13	methylphenidate32 9 9	11.5	DRD2, DRD4
14	yohimbine32 9 9	11.5	DRD3, DRD2
15	mptp32	9.4	GCH1, DRD3, DRD2
16	phencyclidine32 9 9	11.4	DRD2, DRD4
17	maoa32	9.3	DRD4, DRD2
18	quinpirole32	9.2	DRD3, DRD2
19	promazine32 9 9	11.2	DRD2, DRD4
20	sch 2339032	9.2	DRD2, DRD4, DRD3
21	remoxipride32 9 9	11.2	DRD4, DRD3, DRD2
22	benzamide32	9.2	DRD3, DRD4, DRD2
23	rotigotine32 9 9	11.2	DRD4, DRD2, DRD3
24	raclopride32 42	10.2	DRD3, DRD2, DRD4
25	piperazine32 9 9	11.2	DRD4, DRD3, DRD2
26	sulpiride32 9 9	11.1	DRD3, DRD4, DRD2
27	lisuride32 9 9	11.1	DRD4, DRD2, DRD3
28	ropinirole32 9 9	11.1	DRD4, DRD2, DRD3
29	paliperidone32 9 9	11.1	DRD4, DRD3, DRD2
30	pergolide32 9 9	11.1	DRD2, DRD4, DRD3
31	Methotrimeprazine9 9	10.1	DRD4, DRD3, DRD2
32	pramipexole32 9 9	11.1	DRD3, DRD4, DRD2
33	cabergoline32 9 9	11.1	DRD2, DRD3, DRD4
34	heroin32 9 9	11.1	DRD4, DRD3, DRD2
35	aripiprazole32 34 9 18 9	13.1	DRD2, DRD4, DRD3
36	ziprasidone32 9 9	11.1	DRD4, DRD3, DRD2
37	apomorphine32 9 9	11.1	DRD4, DRD2, DRD3
38	risperidone32 34 9 18 9	13.1	DRD4, DRD2, DRD3
39	quetiapine32 9 18 9	12.1	DRD4, DRD2, DRD3
40	methamphetamine32 9 9	11.1	DRD2, DRD3, DRD4
41	bromocriptine32 9 9	11.1	DRD2, DRD3, DRD4
42	6-hydroxydopamine32	9.1	DRD2, DRD4, DRD3
43	olanzapine32 34 9 18 9	13.1	DRD4, DRD2, DRD3
44	clozapine32 34 9 9	12.0	DRD4, DRD3, DRD2
45	haloperidol32 34 9 9	12.0	DRD2, DRD3, DRD4
46	cocaine32 9 9	10.9	DRD4, DRD2, DRD3
47	catecholamine32	8.8	DRD4, DRD3, GCH1
48	levodopa32 9 9	10.7	GCH1, DRD4, DRD3, DRD2
49	norepinephrine32 9 18 9	11.6	DRD2, DRD3, DRD4, GCH1
50	dopamine32 9 18 9	11.3	GCH1, TOR1A, DRD4, DRD3, DRD2

Cellular components related to myoclonus-dystonia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	endocytic vesicle	GO:030139	9.5	DRD2, DRD3

Biological processes related to myoclonus-dystonia according to GeneDecks:

(show all 28)

id	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of dopamine receptor signaling pathway	GO:060160	9.8	DRD3, DRD2
2	regulation of dopamine uptake involved in synaptic transmission	GO:051584	9.8	DRD3, DRD2
3	regulation of cAMP metabolic process	GO:030814	9.8	DRD2, DRD3
4	regulation of dopamine secretion	GO:014059	9.8	DRD2, DRD3
5	G-protein coupled receptor internalization	GO:002031	9.8	DRD2, DRD3
6	circadian regulation of gene expression	GO:032922	9.7	DRD2, DRD3
7	prepulse inhibition	GO:060134	9.7	DRD3, DRD2
8	negative regulation of protein kinase B signaling cascade	GO:051898	9.7	DRD3, DRD2
9	regulation of blood volume by renin-angiotensin	GO:002016	9.7	DRD3, NKX2-1
10	response to cocaine	GO:042220	9.6	DRD3, DRD2
11	positive regulation of dopamine uptake involved in synaptic transmission	GO:051586	9.6	DRD4, DRD2
12	feeding behavior	GO:007631	9.6	DRD2, NKX2-1
13	response to morphine	GO:043278	9.6	DRD3, DRD2
14	behavioral response to ethanol	GO:048149	9.6	DRD4, DRD2
15	visual learning	GO:008542	9.4	DRD2, DRD3
16	negative regulation of blood pressure	GO:045776	9.4	GCH1, DRD2, DRD3
17	locomotory behavior	GO:007626	9.3	DRD2, DRD3, NKX2-1
18	response to histamine	GO:034776	9.1	DRD3, DRD4, DRD2
19	adenylate cyclase-inhibiting dopamine receptor signaling pathway	GO:007195	9.1	DRD4, DRD3, DRD2
20	behavioral response to cocaine	GO:048148	9.1	DRD3, DRD4, DRD2
21	negative regulation of protein secretion	GO:050709	9.1	DRD2, DRD3, DRD4
22	dopamine metabolic process	GO:042417	9.1	DRD2, DRD3, DRD4
23	synaptic transmission, dopaminergic	GO:001963	9.1	DRD4, DRD3, DRD2
24	arachidonic acid secretion	GO:050482	9.1	DRD2, DRD3, DRD4
25	negative regulation of adenylate cyclase activity	GO:007194	9.1	DRD3, DRD4, DRD2
26	response to amphetamine	GO:001975	9.0	DRD3, DRD2, DRD4
27	social behavior	GO:035176	8.7	DRD3, DRD4
28	positive regulation of transcription from RNA polymerase II promoter	GO:045944	8.5	DRD3, NKX2-1, UBC, DRD2

Molecular functions related to myoclonus-dystonia according to GeneDecks:

id	Name	GO ID	Score	Top Affiliating Genes
1	potassium channel regulator activity	GO:015459	9.3	DRD2, DRD4
2	dopamine receptor activity, coupled via Gi/Go	GO:001591	8.7	DRD2, DRD3, DRD4
3	dopamine binding	GO:035240	8.6	DRD3, DRD2, DRD4
4	drug binding	GO:008144	8.4	DRD3, DRD2, DRD4