MCID: MYC001
MIFTS: 27

Myoclonic Cerebellar Dyssynergia

Categories: Muscle diseases, Neuronal diseases, Rare diseases
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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:



External Ids:

Disease Ontology 11 DOID:12707
MeSH 43 D002527
SNOMED-CT 68 41009006
UMLS 71 C0007761

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...

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 Top Affiliating Genes
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:



Diseases related to Myoclonic Cerebellar Dyssynergia

Symptoms & Phenotypes for Myoclonic Cerebellar Dyssynergia

Drugs & Therapeutics for Myoclonic Cerebellar Dyssynergia

Search Clinical Trials, NIH Clinical Center for Myoclonic Cerebellar Dyssynergia

Cochrane evidence based reviews: myoclonic cerebellar dyssynergia

Genetic Tests for Myoclonic Cerebellar Dyssynergia

Anatomical Context for Myoclonic Cerebellar Dyssynergia

Organs/tissues related to Myoclonic Cerebellar Dyssynergia:

MalaCards : Brain, Cerebellum, Lung, Skin

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
35789031 2022
2
Progressive myoclonus without epilepsy due to a NUS1 frameshift insertion: Dyssynergia cerebellaris myoclonica revisited. 62
35472621 2022
3
Ramsay Hunt syndrome: New impressions in the era of molecular genetics. 62
35430109 2022
4
Temporal Changes in Brain Perfusion in a Patient with Myoclonus and Ataxia Syndrome Associated with COVID-19. 62
35110499 2022
5
Long-term neurological outcomes of children with neuroblastoma with opsoclonus-myoclonus syndrome. 62
35378965 2022
6
Major intra-familial variability in Unverricht-Lundborg disease. 62
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
34950395 2022
8
WARS2 mutations cause dopa-responsive early-onset parkinsonism and progressive myoclonus ataxia. 62
34890876 2022
9
Adult-onset rapidly worsening progressive myoclonic epilepsy caused by a novel variant in DHDDS. 62
34837344 2021
10
Myoclonus and cerebellar ataxia associated with COVID-19: a case report and systematic review. 62
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
34290220 2021
12
A novel variant of dehydrodolichol diphosphate synthase (DHDDS) mutation with adult-onset progressive myoclonus ataxia. 62
34034154 2021
13
Opsoclonus-myoclonus syndrome associated with herpes simplex virus infection: a case report. 62
32116082 2021
14
Myoclonus-Ataxia Syndromes: A Diagnostic Approach. 62
33426154 2021
15
Creutzfeldt-Jakob disease: A case report. 62
34760082 2021
16
Movement Disorders Associated with COVID-19. 62
34790346 2021
17
Sialidosis Type I without a Cherry Red Spot- Is There a Genetic Basis? 62
33121223 2021
18
Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature. 62
33553400 2021
19
Opsoclonus-myoclonus-ataxia syndrome associated with central nervous system HIV-1 escape phenomenon. 62
33085078 2020
20
Diagnosis and Management of Type 1 Sialidosis: Clinical Insights from Long-Term Care of Four Unrelated Patients. 62
32752208 2020
21
Reduction in Myoclonus and Ataxia Following the Use of Perampanel in Patient With Sialidosis Type 1. 62
32299749 2020
22
Two sisters with myoclonus and ataxia. 62
32161095 2020
23
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene. 62
31371146 2020
24
Quantitative Changes in the Mitochondrial Proteome of Cerebellar Synaptosomes From Preclinical Cystatin B-Deficient Mice. 62
33281550 2020
25
Dyssynergia Cerebellaris Progressiva. 62
31979640 2020
26
[Clinical symptoms of patients with autoimmune encephalitis: a guide to timely recognition and treatment]. 62
32073782 2019
27
Clinical characteristics of autoimmune GFAP astrocytopathy. 62
30991306 2019
28
Visual snow: Not so benign. 62
30910546 2019
29
Opsoclonus in a child with neuroborreliosis: Case report and review of the literature. 62
30655046 2019
30
Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old child. 62
29951721 2018
31
Progressive myoclonus ataxia: Time for a new definition? 62
30145808 2018
32
Myoclonus from Antibiotic Therapy (Ceftazidime-induced Neurotoxicity): A Case Report and Review. 62
29721398 2018
33
Autoimmune and paraneoplastic movement disorders: An update. 62
29406902 2018
34
Agrypnia excitata and obstructive apnea in a patient with fatal familial insomnia from China: A case report. 62
29245265 2017
35
Clinical Reasoning: A 54-year-old woman with dementia, myoclonus, and ataxia. 62
28696937 2017
36
SCA13 causes dominantly inherited non-progressive myoclonus ataxia. 62
28216058 2017
37
Opsoclonus myoclonus ataxia associated with West Nile virus infection: A dramatic presentation with benign prognosis? 62
28431624 2017
38
Neuroblastoma presenting as opsoclonus-myoclonus: A series of six cases and review of literature. 62
28217170 2016
39
Report of progressive myoclonus ataxia (PMA) in two Chinese pedigrees. 62
27342741 2016
40
Extranodal NK/T-cell lymphoma, nasal type, manifesting as rapidly progressive dementia without any mass or enhancing brain lesion. 62
26773724 2016
41
Enterovirus 71 infection and neurological complications. 62
27826325 2016
42
The "neuro" of neuroblastoma: Neuroblastoma as a neurodevelopmental disorder. 62
27043043 2016
43
Childhood opsoclonus-myoclonus syndrome: diagnosis and treatment. 62
27095464 2016
44
Benign hereditary chorea, not only chorea: a family case presentation. 62
26839702 2016
45
Pediatric Opsoclonus-Myoclonus-Ataxia Syndrome Associated With Anti-N-methyl-D-aspartate Receptor Encephalitis. 62
26341674 2015
46
Antibodies to dendritic neuronal surface antigens in opsoclonus myoclonus ataxia syndrome. 62
26298330 2015
47
Opsoclonus-myoclonus syndrome associated with a nasopharyngeal tumor in an adult: a case report. 62
26033370 2015
48
'Dancing eyes, dancing feet syndrome' in small cell lung carcinoma. 62
24759364 2014
49
The role of the cerebellum in the pathogenesis of cortical myoclonus. 62
24634361 2014
50
A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure. 62
24339182 2014

Variations for Myoclonic Cerebellar Dyssynergia

Expression for Myoclonic Cerebellar Dyssynergia

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

Pathways for Myoclonic Cerebellar Dyssynergia

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

Sources for Myoclonic Cerebellar Dyssynergia

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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