MCID: MYC078
MIFTS: 34

Myoclonus and Ataxia

Categories: Neuronal diseases, Infectious diseases, Rare diseases

Aliases & Classifications for Myoclonus and Ataxia

MalaCards integrated aliases for Myoclonus and Ataxia:

Name: Myoclonus and Ataxia 57 73
Ramsay Hunt Syndrome 57 59
Facial Nerve Palsy Due to Herpes Zoster Infection 59
Facial Nerve Paralysis Due to Vzv 59
Facial Nerve Palsy Due to Vzv 59
Herpes Zoster Oticus 73

Characteristics:

Orphanet epidemiological data:

59
ramsay hunt syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (United States); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant
heterogeneous


HPO:

32
myoclonus and ataxia:
Inheritance heterogeneous autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 159700
Orphanet 59 ORPHA3020
ICD10 via Orphanet 34 B02.2+ G53.0*
UMLS via Orphanet 74 C0017409
MedGen 42 C1834580
UMLS 73 C1834580

Summaries for Myoclonus and Ataxia

MalaCards based summary : Myoclonus and Ataxia, also known as ramsay hunt syndrome, is related to ramsay hunt syndrome i and myoclonic epilepsy of unverricht and lundborg, and has symptoms including earache and neuralgia. An important gene associated with Myoclonus and Ataxia is KCTD7 (Potassium Channel Tetramerization Domain Containing 7). The drugs Cladribine and Immunosuppressive Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, globus pallidus and kidney, and related phenotypes are ataxia and myoclonus

Description from OMIM: 159700

Related Diseases for Myoclonus and Ataxia

Diseases in the Myoclonus and Ataxia family:

Gosr2-Related Progressive Myoclonus Ataxia

Diseases related to Myoclonus and Ataxia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 ramsay hunt syndrome i 12.4
2 myoclonic epilepsy of unverricht and lundborg 11.0
3 myoclonic cerebellar dyssynergia 11.0
4 geniculate herpes zoster 11.0
5 galactosialidosis 10.9
6 myoclonus 10.2
7 neuroblastoma 9.7
8 mumps 9.7
9 dementia 9.7
10 pellagra 9.7
11 encephalopathy 9.7

Comorbidity relations with Myoclonus and Ataxia via Phenotypic Disease Network (PDN):


Facial Paralysis

Graphical network of the top 20 diseases related to Myoclonus and Ataxia:



Diseases related to Myoclonus and Ataxia

Symptoms & Phenotypes for Myoclonus and Ataxia

Symptoms via clinical synopsis from OMIM:

57
Neuro:
myoclonus
intention tremor
cerebellar ataxia
occasional tonic-clonic seizures

Lab:
lesion of cerebellar dentate nucleus
degeneration of globus pallidus
elevated cerebrospinal fluid uric acid
mitochondrial abnormalities
ragged-red fibers on muscle biopsy


Clinical features from OMIM:

159700

Human phenotypes related to Myoclonus and Ataxia:

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

UMLS symptoms related to Myoclonus and Ataxia:


earache, neuralgia

Drugs & Therapeutics for Myoclonus and Ataxia

Drugs for Myoclonus and Ataxia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cladribine Approved, Investigational Phase 3 4291-63-8 20279
2 Immunosuppressive Agents Phase 3
3
rituximab Approved Phase 2 174722-31-7 10201696
4 Antirheumatic Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 CLARITY Extension Study Completed NCT00641537 Phase 3 Cladribine;Placebo;Cladribine;Cladribine;Placebo
2 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2 anti-CD20 (Rituximab)
3 Transcranial Magnetic Stimulation for Facial Pain Active, not recruiting NCT02633306 Not Applicable

Search NIH Clinical Center for Myoclonus and Ataxia

Genetic Tests for Myoclonus and Ataxia

Anatomical Context for Myoclonus and Ataxia

MalaCards organs/tissues related to Myoclonus and Ataxia:

41
Brain, Globus Pallidus, Kidney, Liver, Bone, Testes, Ovary

Publications for Myoclonus and Ataxia

Articles related to Myoclonus and Ataxia:

(show top 50) (show all 239)
# Title Authors Year
1
Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old child. ( 29951721 )
2018
2
Prognostic value of the blink reflex test in Bell's palsy and Ramsay-Hunt syndrome. ( 29402606 )
2018
3
Usefulness of High-Resolution 3D Multi-Sequences for Peripheral Facial Palsy: Differentiation Between Bell's Palsy and Ramsay Hunt Syndrome. ( 29135869 )
2017
4
Facial paralysis due to Ramsay Hunt syndrome - A rare condition. ( 28614529 )
2017
5
Prognostic factors of Bell's palsy and Ramsay Hunt syndrome. ( 28079835 )
2017
6
Clinical Reasoning: A 54-year-old woman with dementia, myoclonus, and ataxia. ( 28696937 )
2017
7
Herpes Zoster Infection Involving Mandibular Division of Trigeminal Nerve and Ramsay Hunt Syndrome with Meningitis in an Immunocompetent Patient: A Rare Association. ( 27504334 )
2016
8
Herpetic cranial polyneuritis mimicking brain stem infarction-an atypical presentation of Ramsay Hunt syndrome. ( 27251418 )
2016
9
Ramsay Hunt Syndrome Associated with Central Nervous System Involvement in an Adult. ( 27366189 )
2016
10
Man With Facial Nerve Palsy and Ear Pain. Ramsay Hunt Syndrome. ( 26707524 )
2016
11
Cerebrospinal fluid viral load and biomarkers of neuronal and glial cells in Ramsay Hunt syndrome. ( 27643680 )
2016
12
Magnetic Resonance Imaging Evidence of Varicella Zoster Virus Polyneuropathy: Involvement of the Glossopharyngeal and Vagus Nerves Associated With Ramsay Hunt Syndrome. ( 27092925 )
2016
13
Concurrent Ramsay Hunt syndrome and disseminated herpes zoster in a patient with relapsed chronic lymphocytic leukemia. ( 27757380 )
2016
14
Ramsay Hunt syndrome. ( 26864575 )
2016
15
Ramsay Hunt syndrome. ( 27497069 )
2016
16
A rare case of Ramsay Hunt syndrome following temporomandibular joint surgery. ( 25864001 )
2015
17
Vibration- and Hyperventilation-Induced Nystagmus in Patients with Ramsay Hunt Syndrome with Vertigo. ( 25672836 )
2015
18
A case of Ramsay Hunt syndrome diagnosed after kidney transplantation. ( 26779429 )
2015
19
Trigeminal herpes zoster complicated by Ramsay Hunt syndrome. ( 25607330 )
2015
20
Ramsay Hunt Syndrome Complicated by Brainstem Encephalitis in Varicella-zoster Virus Infection. ( 26612307 )
2015
21
Ramsay Hunt syndrome and zoster laryngitis with multiple cranial nerve involvement. ( 26793453 )
2015
22
Pediatric Ramsay Hunt Syndrome: Analysis of Three Cases. ( 26435868 )
2015
23
Ramsay hunt syndrome. ( 25743481 )
2015
24
Management of ramsay hunt syndrome in an acute palliative care setting. ( 25709192 )
2015
25
Acupuncture: a potential modality for the treatment of auricular pruritus in ramsay hunt syndrome with multiple cranial nerve lesions. ( 25710744 )
2015
26
Varicella-zoster virus-specific cell-mediated immunity in Ramsay Hunt syndrome. ( 26183571 )
2015
27
Ramsay Hunt syndrome in a patient with H7N9 influenza virus infection. ( 25635445 )
2015
28
Neurosyphilis Mimicking Ramsay Hunt Syndrome. ( 26568393 )
2015
29
Mandibular osteonecrosis and Ramsay Hunt syndrome following a case of herpes zoster. ( 25234535 )
2014
30
Ramsay Hunt syndrome after cervical zoster in an immunocompetent patient. ( 24842724 )
2014
31
Ramsay hunt syndrome in a patient with rheumatoid arthritis after treatment with infliximab. ( 24660085 )
2014
32
Ramsay-Hunt Syndrome in a patient with Crohn's disease under adalimumab: First case report. ( 25081200 )
2014
33
Vocal cord paralysis associated with Ramsay Hunt syndrome: looking back 50 years. ( 24503657 )
2014
34
Ramsay Hunt syndrome type II. ( 24799517 )
2014
35
The clinical significance of findings obtained on 3D-FLAIR MR imaging in patients with Ramsay-Hunt syndrome. ( 25346250 )
2014
36
Ramsay Hunt syndrome presenting with ataxia and syndrome of inappropriate antidiuretic hormone secretion. ( 25132348 )
2014
37
Ramsay Hunt syndrome: clinical characterization of progressive myoclonus ataxia caused by GOSR2 mutation. ( 24458321 )
2014
38
Atypical Ramsay Hunt syndrome. ( 26035926 )
2014
39
A pediatric case of ramsay hunt syndrome. ( 25276457 )
2014
40
Ramsay Hunt syndrome with vocal fold paralysis. ( 24751392 )
2014
41
Ramsay Hunt syndrome with facial vesicular rash: a unique clinical presentation in a kidney transplant patient. ( 25022306 )
2014
42
Ramsay Hunt syndrome revisited. ( 23763077 )
2013
43
Prognostic factors of synkinesis after Bell's palsy and Ramsay Hunt syndrome. ( 23419994 )
2013
44
An unexpected case of Ramsay Hunt syndrome: case report and literature review. ( 23985267 )
2013
45
Ramsay Hunt syndrome associated with tocilizumab therapy in rheumatoid arthritis: a case report. ( 23981764 )
2013
46
Ramsay Hunt syndrome with an unusual clinical presentation in a liver transplant recipient: a case report and literature review. ( 23621703 )
2013
47
Herpes zoster laryngitis accompanied by Ramsay Hunt syndrome. ( 24036828 )
2013
48
Comparison of Transcranial Magnetic Stimulation and Electroneuronography Between Bell's Palsy and Ramsay Hunt Syndrome in Their Acute Stages. ( 23525840 )
2013
49
Ramsay Hunt syndrome with trochlear nerve involvement and EEG abnormalities: multicranial neuritis or encephalitis? ( 23021966 )
2013
50
Ramsay Hunt syndrome in a girl with acute lymphoblastic leukemia during maintenance therapy. ( 23459378 )
2013

Variations for Myoclonus and Ataxia

Expression for Myoclonus and Ataxia

Search GEO for disease gene expression data for Myoclonus and Ataxia.

Pathways for Myoclonus and Ataxia

GO Terms for Myoclonus and Ataxia

Sources for Myoclonus and Ataxia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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