Myoclonic Cerebellar Dyssynergia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Myoclonic Cerebellar Dyssynergia

MalaCards integrated aliases for Myoclonic Cerebellar Dyssynergia:

Name: Myoclonic Cerebellar Dyssynergia ¹¹ ⁴³ ¹⁴ ¹⁶ ⁷¹

Dyssynergia Cerebellaris Myoclonica ¹¹ ¹⁹ ⁵²

Ramsay Hunt Cerebellar Syndrome ¹⁹ ⁷⁵

Ramsay Hunt Syndrome Type 1 ¹⁹ ⁷⁵

Dyssynergia Cerebellaris Progressiva ¹⁹

Progressive Cerebellar Tremor ¹¹

Progressive Myoclonus Ataxia ¹⁹

Dentate Cerebellar Ataxia ¹⁹

Primary Dentatum Atrophy ¹⁹

Dentatorubral Atrophy ¹⁹

Myoclonus and Ataxia ¹⁹

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Neuronal diseases Muscle diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹¹ DOID:12707

MeSH ⁴³ D002527

SNOMED-CT ⁶⁸ 41009006

EFO ¹⁶ EFO_1001053

UMLS ⁷¹ C0007761

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Summaries for Myoclonic Cerebellar Dyssynergia

NINDS: ⁵² Dyssynergia Cerebellaris Myoclonica refers to a collection of rare, degenerative, neurological disorders characterized by epilepsy, cognitive impairment, myoclonus, and progressive ataxia. Symptoms include seizures, tremor, and reduced muscle coordination. Onset of the disorder generally occurs in early adulthood. Tremor may begin in one extremity and later spread to involve the entire voluntary muscular system. Arms are usually more affected than legs. Some of the cases are due to mitochondrial abnormalities.

MalaCards based summary: Myoclonic Cerebellar Dyssynergia, also known as dyssynergia cerebellaris myoclonica, is related to progressive myoclonus epilepsy 6 and myoclonic epilepsy of unverricht and lundborg. An important gene associated with Myoclonic Cerebellar Dyssynergia is NUS1 (NUS1 Dehydrodolichyl Diphosphate Synthase Subunit). Affiliated tissues include brain, cerebellum and lung.

Wikipedia: ⁷⁵ Ramsay Hunt syndrome type 1 is a rare, degenerative, neurological disorder characterized by myoclonus... more...

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Related Diseases for Myoclonic Cerebellar Dyssynergia

Diseases related to Myoclonic Cerebellar Dyssynergia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 53)

#	Related Disease	Score
1	progressive myoclonus epilepsy 6	11.7
2	myoclonic epilepsy of unverricht and lundborg	11.2
3	epilepsy, progressive myoclonic, 10	11.1
4	progressive myoclonus epilepsy 10	11.1
5	creutzfeldt-jakob disease	11.0
6	herpes zoster oticus	10.4
7	dyssynergia cerebellaris myoclonica of hunt	10.4
8	photoparoxysmal response 1	10.3
9	friedreich ataxia	10.3
10	mitochondrial encephalomyopathy	10.3
11	progressive myoclonus epilepsy	10.3
12	movement disease	10.2
13	telangiectasis	10.1
14	neuronal ceroid lipofuscinosis	10.1
15	status epilepticus	10.1
16	epilepsy	10.1
17	early myoclonic encephalopathy	10.1
18	myoclonus epilepsy	10.1
19	myoclonus	10.1
20	contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a	10.1
21	epilepsy, progressive myoclonic, 4, with or without renal failure	10.1
22	kidney disease	10.1
23	otitis media	10.1
24	spinocerebellar ataxia 13	10.0
25	epilepsy, progressive myoclonic, 6	10.0
26	neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	10.0
27	parkinsonism-dystonia 3, childhood-onset	10.0
28	hereditary ataxia	10.0
29	parkinsonism	10.0
30	autosomal dominant cerebellar ataxia	10.0
31	dystonia	10.0
32	pathologic nystagmus	10.0
33	spasticity	10.0
34	mitochondrial disease	10.0
35	alcohol dependence	9.9
36	neuraminidase deficiency	9.9
37	congenital hemidysplasia with ichthyosiform erythroderma and limb defects	9.9
38	gracile syndrome	9.9
39	aceruloplasminemia	9.9
40	mumps	9.9
41	dementia	9.9
42	diarrhea	9.9
43	hepatic encephalopathy	9.9
44	alcoholic liver cirrhosis	9.9
45	alcohol use disorder	9.9
46	glycoproteinosis	9.9
47	liver cirrhosis	9.9
48	neuroblastoma	9.9
49	pellagra	9.9
50	children's interstitial lung disease	9.9

Graphical network of the top 20 diseases related to Myoclonic Cerebellar Dyssynergia:

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Symptoms & Phenotypes for Myoclonic Cerebellar Dyssynergia

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Drugs & Therapeutics for Myoclonic Cerebellar Dyssynergia

Search Clinical Trials, NIH Clinical Center for Myoclonic Cerebellar Dyssynergia

Cochrane evidence based reviews: myoclonic cerebellar dyssynergia

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Genetic Tests for Myoclonic Cerebellar Dyssynergia

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Anatomical Context for Myoclonic Cerebellar Dyssynergia

Organs/tissues related to Myoclonic Cerebellar Dyssynergia:

MalaCards : Brain, Cerebellum, Lung, Skin

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Publications for Myoclonic Cerebellar Dyssynergia

Articles related to Myoclonic Cerebellar Dyssynergia:

(show top 50) (show all 167)

#	Title	Authors	PMID	Year
1	SORL1 gene mutation and octapeptide repeat insertion in PRNP gene in a case presenting with rapidly progressive dementia and cerebral amyloid angiopathy. ⁶²	Cencini F...Scelzo E	35789031	2022
2	Progressive myoclonus without epilepsy due to a NUS1 frameshift insertion: Dyssynergia cerebellaris myoclonica revisited. ⁶²	Monfrini E...Riboldi GM	35472621	2022
3	Ramsay Hunt syndrome: New impressions in the era of molecular genetics. ⁶²	Teive HAG...Munhoz RP	35430109	2022
4	Temporal Changes in Brain Perfusion in a Patient with Myoclonus and Ataxia Syndrome Associated with COVID-19. ⁶²	Osawa K...Kuwabara S	35110499	2022
5	Long-term neurological outcomes of children with neuroblastoma with opsoclonus-myoclonus syndrome. ⁶²	Sun Q...Zhao W	35378965	2022
6	Major intra-familial variability in Unverricht-Lundborg disease. ⁶²	Nasri A...Gouider R	34787084	2022
7	Case Report: Opsoclonus-Myoclonus Syndrome Associated With Contactin-Associated Protein-Like 2 and Acetylcholine Receptor Autoantibodies in the Setting of Non-Small Cell Lung Carcinoma. ⁶²	Rosenow CS...Grill MF	34950395	2022
8	WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. ⁶²	Skorvanek M...Jech R	34890876	2022
9	Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS. ⁶²	Kim S...Moon J	34837344	2021
10	Myoclonus and cerebellar ataxia associated with COVID-19: a case report and systematic review. ⁶²	Chan JL...Sarna JR	33616739	2021
11	Unusual Movement Disorders and Atypical Magnetic Resonance Imaging (MRI) Findings in Patients with West Nile Encephalitis: Case Reports of 2 Patients with Evidence of Clinical and Imaging Resolution with IVIG. ⁶²	Sheikh IS...Sheikh A	34290220	2021
12	A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia. ⁶²	Kim J...Koh SB	34034154	2021
13	Opsoclonus-myoclonus syndrome associated with herpes simplex virus infection: a case report. ⁶²	Chen Y...Xu P	32116082	2021
14	Myoclonus-Ataxia Syndromes: A Diagnostic Approach. ⁶²	Rossi M...van de Warrenburg B	33426154	2021
15	Creutzfeldt-Jakob disease: A case report. ⁶²	Salehian R...Moudi S	34760082	2021
16	Movement Disorders Associated with COVID-19. ⁶²	Salari M...Nouri H	34790346	2021
17	Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis? ⁶²	Neeraja K...Pal PK	33121223	2021
18	Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature. ⁶²	Cao LX...Zhao GH	33553400	2021
19	Opsoclonus-myoclonus-ataxia syndrome associated with central nervous system HIV-1 escape phenomenon. ⁶²	Mendoza-Olivas L...Chiquete E	33085078	2020
20	Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients. ⁶²	Coppola A...Bilo L	32752208	2020
21	Reduction in Myoclonus and Ataxia Following the Use of Perampanel in Patient With Sialidosis Type 1. ⁶²	So ECT...Yeung WL	32299749	2020
22	Two sisters with myoclonus and ataxia. ⁶²	Pereira M...Macario MDC	32161095	2020
23	Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene. ⁶²	Fan SP...Lin CH	31371146	2020
24	Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice. ⁶²	Gorski K...Lehesjoki AE	33281550	2020
25	Dyssynergia Cerebellaris Progressiva. ⁶²	Harini...Alagesan	31979640	2020
26	[Clinical symptoms of patients with autoimmune encephalitis: a guide to timely recognition and treatment]. ⁶²	Crijnen YS...Titulaer MJ	32073782	2019
27	Clinical characteristics of autoimmune GFAP astrocytopathy. ⁶²	Kimura A...Shimohata T	30991306	2019
28	Visual snow: Not so benign. ⁶²	Chen BS...Anderson NE	30910546	2019
29	Opsoclonus in a child with neuroborreliosis: Case report and review of the literature. ⁶²	Gibaud M...Van Bogaert P	30655046	2019
30	Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old child. ⁶²	Frattini D...Fusco C	29951721	2018
31	Progressive myoclonus ataxia: Time for a new definition? ⁶²	van der Veen S...Tijssen MAJ	30145808	2018
32	Myoclonus from Antibiotic Therapy (Ceftazidime-induced Neurotoxicity): A Case Report and Review. ⁶²	Ong CY...Qin Y	29721398	2018
33	Autoimmune and paraneoplastic movement disorders: An update. ⁶²	Baizabal-Carvallo JF...Jankovic J	29406902	2018
34	Agrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China: A case report. ⁶²	Sun C...Li Y	29245265	2017
35	Clinical Reasoning: A 54-year-old woman with dementia, myoclonus, and ataxia. ⁶²	Ali F...Flanagan EP	28696937	2017
36	SCA13 causes dominantly inherited non-progressive myoclonus ataxia. ⁶²	Montaut S...Anheim M	28216058	2017
37	Opsoclonus myoclonus ataxia associated with West Nile virus infection: A dramatic presentation with benign prognosis? ⁶²	Zaltzman R...Gordon CR	28431624	2017
38	Neuroblastoma presenting as opsoclonus-myoclonus: A series of six cases and review of literature. ⁶²	Meena JP...Naranje P	28217170	2016
39	Report of progressive myoclonus ataxia (PMA) in two Chinese pedigrees. ⁶²	Sun L...Lin W	27342741	2016
40	Extranodal NK/T-cell lymphoma, nasal type, manifesting as rapidly progressive dementia without any mass or enhancing brain lesion. ⁶²	Shimatani Y...Kaji R	26773724	2016
41	Enterovirus 71 infection and neurological complications. ⁶²	Lee KY	27826325	2016
42	The "neuro" of neuroblastoma: Neuroblastoma as a neurodevelopmental disorder. ⁶²	Ratner N...Schor NF	27043043	2016
43	Childhood opsoclonus-myoclonus syndrome: diagnosis and treatment. ⁶²	Blaes F...Dharmalingam B	27095464	2016
44	Benign hereditary chorea, not only chorea: a family case presentation. ⁶²	Koht J...Tallaksen CM	26839702	2016
45	Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome Associated With Anti-N-methyl-D-aspartate Receptor Encephalitis. ⁶²	Player B...Croix M	26341674	2015
46	Antibodies to dendritic neuronal surface antigens in opsoclonus myoclonus ataxia syndrome. ⁶²	Panzer JA...Lynch DR	26298330	2015
47	Opsoclonus-myoclonus syndrome associated with a nasopharyngeal tumor in an adult: a case report. ⁶²	Taib BG...Jacob A	26033370	2015
48	'Dancing eyes, dancing feet syndrome' in small cell lung carcinoma. ⁶²	Sharma C...Kochar A	24759364	2014
49	The role of the cerebellum in the pathogenesis of cortical myoclonus. ⁶²	Ganos C...Bhatia KP	24634361	2014
50	A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. ⁶²	Perandones C...Micheli F	24339182	2014

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Genes for Myoclonic Cerebellar Dyssynergia

Genes related to Myoclonic Cerebellar Dyssynergia (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence
1	NUS1	NUS1 Dehydrodolichyl Diphosphate Synthase Subunit	Protein Coding	6.24	DISEASES inferred ¹⁴
2	SHCBP1L	SHC Binding And Spindle Associated 1 Like	Protein Coding	6.04	DISEASES inferred ¹⁴
3	RGPD1	RANBP2 Like And GRIP Domain Containing 1	Protein Coding	5.92	DISEASES inferred ¹⁴
4	RGPD3	RANBP2 Like And GRIP Domain Containing 3	Protein Coding	5.68	DISEASES inferred ¹⁴
5	NIPSNAP3B	Nipsnap Homolog 3B	Protein Coding	5.57	DISEASES inferred ¹⁴
6	HS1BP3	HCLS1 Binding Protein 3	Protein Coding	5.42	DISEASES inferred ¹⁴
7	TK2	Thymidine Kinase 2	Protein Coding	5.38	DISEASES inferred ¹⁴

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Variations for Myoclonic Cerebellar Dyssynergia

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Expression for Myoclonic Cerebellar Dyssynergia

Search GEO for disease gene expression data for Myoclonic Cerebellar Dyssynergia.

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Pathways for Myoclonic Cerebellar Dyssynergia

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GO Terms for Myoclonic Cerebellar Dyssynergia

Cellular components related to Myoclonic Cerebellar Dyssynergia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	nuclear pore	GO:0005643	8.8	RGPD3 RGPD1

Biological processes related to Myoclonic Cerebellar Dyssynergia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	intracellular transport	GO:0046907	8.96	RGPD3 RGPD1
2	NLS-bearing protein import into nucleus	GO:0006607	8.8	RGPD3 RGPD1

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Sources for Myoclonic Cerebellar Dyssynergia

¹ BitterDB

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²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

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²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

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³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

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⁴⁴ MESH via Orphanet

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⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

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⁵¹ NIH Clinical Center

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⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

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⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

MCID: MYC001 MIFTS: 27	Myoclonic Cerebellar Dyssynergia Categories: Muscle diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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