MCID: MYC001
MIFTS: 20

Myoclonic Cerebellar Dyssynergia

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Myoclonic Cerebellar Dyssynergia

MalaCards integrated aliases for Myoclonic Cerebellar Dyssynergia:

Name: Myoclonic Cerebellar Dyssynergia 12 42 14 69
Dyssynergia Cerebellaris Myoclonica 12 50 51
Dyssynergia Cerebellaris Progressiva 50 51
Dentate Cerebellar Ataxia 50 51
Primary Dentatum Atrophy 50 51
Dentatorubral Atrophy 50 51
Ramsay Hunt Cerebellar Syndrome 50
Progressive Cerebellar Tremor 12
Progressive Myoclonus Ataxia 50
Myoclonus and Ataxia 50

Characteristics:

HPO:

32
myoclonic cerebellar dyssynergia:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



Summaries for Myoclonic Cerebellar Dyssynergia

NINDS : 51 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 gosr2-related progressive myoclonus ataxia and ramsay hunt syndrome i, and has symptoms including myoclonus, ataxia and generalized seizures. An important gene associated with Myoclonic Cerebellar Dyssynergia is MT-TK (Mitochondrially Encoded TRNA Lysine). Related phenotype is Increased shRNA abundance (Z-score > 2).

Related Diseases for Myoclonic Cerebellar Dyssynergia

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

id Related Disease Score Top Affiliating Genes
1 gosr2-related progressive myoclonus ataxia 11.3
2 ramsay hunt syndrome i 11.3
3 epilepsy, progressive myoclonic 1a 10.9
4 galactosialidosis 10.8
5 myoclonus 10.2
6 mitochondrial encephalomyopathy 10.2
7 encephalomyopathy 10.2
8 tyrosinemia, type i 9.5 CTSA VIM
9 nephronophthisis 8.6 CTSA MT-TK VIM

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



Diseases related to Myoclonic Cerebellar Dyssynergia

Symptoms & Phenotypes for Myoclonic Cerebellar Dyssynergia

Human phenotypes related to Myoclonic Cerebellar Dyssynergia:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 myoclonus 32 HP:0001336
2 ataxia 32 HP:0001251
3 generalized seizures 32 occasional (7.5%) HP:0002197
4 intention tremor 32 HP:0002080
5 pallidal degeneration 32 HP:0007132
6 ragged-red muscle fibers 32 HP:0003200
7 abnormality of the mitochondrion 32 HP:0012103
8 abnormality of the dentate nucleus 32 HP:0100321

GenomeRNAi Phenotypes related to Myoclonic Cerebellar Dyssynergia according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.62 VIM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-146 9.62 VIM
3 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.62 VIM
4 Increased shRNA abundance (Z-score > 2) GR00366-A-177 9.62 VIM CTSA
5 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.62 VIM
6 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.62 VIM
7 Increased shRNA abundance (Z-score > 2) GR00366-A-199 9.62 CTSA
8 Increased shRNA abundance (Z-score > 2) GR00366-A-21 9.62 CTSA
9 Increased shRNA abundance (Z-score > 2) GR00366-A-215 9.62 CTSA
10 Increased shRNA abundance (Z-score > 2) GR00366-A-25 9.62 CTSA
11 Increased shRNA abundance (Z-score > 2) GR00366-A-29 9.62 VIM
12 Increased shRNA abundance (Z-score > 2) GR00366-A-30 9.62 VIM
13 Increased shRNA abundance (Z-score > 2) GR00366-A-42 9.62 CTSA
14 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.62 CTSA
15 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.62 VIM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.62 CTSA
17 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.62 VIM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-93 9.62 CTSA
19 Increased shRNA abundance (Z-score > 2) GR00366-A-96 9.62 CTSA

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

Publications for Myoclonic Cerebellar Dyssynergia

Articles related to Myoclonic Cerebellar Dyssynergia:

id Title Authors Year
1
Clinical and electroencephalographic investigations in myoclonic cerebellar dyssynergia. ( 14411893 )
1959

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

Sources for Myoclonic Cerebellar Dyssynergia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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