MCID: MYC078
MIFTS: 33

Myoclonus and Ataxia

Categories: Infectious diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Myoclonus and Ataxia

MalaCards integrated aliases for Myoclonus and Ataxia:

Name: Myoclonus and Ataxia 56 71
Ramsay Hunt Syndrome 56 58
Facial Nerve Palsy Due to Herpes Zoster Infection 58
Facial Nerve Paralysis Due to Vzv 58
Facial Nerve Palsy Due to Vzv 58
Herpes Zoster Oticus 71

Characteristics:

Orphanet epidemiological data:

58
ramsay hunt syndrome
Inheritance: Not applicable; Prevalence: 1-9/100000 (United States); Age of onset: All ages; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
heterogeneous
autosomal dominant


HPO:

31
myoclonus and ataxia:
Inheritance autosomal dominant inheritance heterogeneous


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare infectious diseases


External Ids:

OMIM 56 159700
ICD10 via Orphanet 33 B02.2+ G53.0*
UMLS via Orphanet 72 C0017409
Orphanet 58 ORPHA3020
MedGen 41 C1834580
UMLS 71 C0017409 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 herpes zoster oticus, 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 rituximab and Antineoplastic Agents, Immunological have been mentioned in the context of this disorder. Affiliated tissues include kidney, lung and brain, and related phenotypes are generalized-onset seizure and ataxia

More information from OMIM: 159700

Related Diseases for Myoclonus and Ataxia

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

(show top 50) (show all 129)
# Related Disease Score Top Affiliating Genes
1 ramsay hunt syndrome i 12.8
2 herpes zoster oticus 12.6
3 obsolete: ramsay hunt syndrome type ii 12.5
4 geniculate ganglionitis 11.8
5 myoclonic epilepsy of unverricht and lundborg 11.3
6 myoclonic cerebellar dyssynergia 11.3
7 galactosialidosis 11.2
8 facial paralysis 11.1
9 chickenpox 11.0
10 herpes zoster 11.0
11 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.8
12 bell's palsy 10.8
13 exanthem 10.8
14 neuritis 10.7
15 polyneuropathy 10.6
16 sensorineural hearing loss 10.6
17 encephalitis 10.6
18 pathologic nystagmus 10.5
19 dysphagia 10.5
20 neuropathy 10.5
21 immune deficiency disease 10.4
22 mitochondrial encephalomyopathy 10.4
23 meningitis 10.4
24 acoustic neuroma 10.4
25 neuroma 10.4
26 unverricht-lundborg syndrome 10.4
27 ataxia and polyneuropathy, adult-onset 10.3
28 myoclonus 10.3
29 branchiootic syndrome 1 10.3
30 vestibular neuronitis 10.3
31 laryngitis 10.3
32 herpes simplex 10.3
33 myoclonus epilepsy 10.3
34 rheumatoid arthritis 10.2
35 kearns-sayre syndrome 10.2
36 osteonecrosis 10.2
37 lymphocytic leukemia 10.2
38 meningoencephalitis 10.2
39 aseptic meningitis 10.2
40 guillain-barre syndrome 10.2
41 labyrinthitis 10.2
42 pharyngitis 10.2
43 sensory peripheral neuropathy 10.2
44 inappropriate adh syndrome 10.2
45 progressive myoclonus epilepsy 10.2
46 47,xyy 10.2
47 sudden sensorineural hearing loss 10.2
48 pfeiffer syndrome 10.1
49 aniridia 1 10.1
50 colorectal cancer 10.1

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

Human phenotypes related to Myoclonus and Ataxia:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 generalized-onset seizure 31 occasional (7.5%) HP:0002197
2 ataxia 31 HP:0001251
3 myoclonus 31 HP:0001336
4 intention tremor 31 HP:0002080
5 ragged-red muscle fibers 31 HP:0003200
6 abnormality of the mitochondrion 31 HP:0012103
7 abnormality of the dentate nucleus 31 HP:0100321
8 pallidal degeneration 31 HP:0007132

Symptoms via clinical synopsis from OMIM:

56
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

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
rituximab Approved Phase 2 174722-31-7 10201696
2 Antineoplastic Agents, Immunological Phase 2
3 Antirheumatic Agents Phase 2
4 Immunologic Factors Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Use of Rituximab in Opsoclonus-Myoclonus in Children With Neuroblastoma Unknown status NCT00202930 Phase 2 anti-CD20 (Rituximab)
2 Complex Oro-Facial Pain: Functional Imaging Characterization and Treatment With Transcranial Magnetic Stimulation Completed NCT02633306

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:

40
Kidney, Lung, Brain, Liver, Globus Pallidus, Bone, Skin

Publications for Myoclonus and Ataxia

Articles related to Myoclonus and Ataxia:

(show top 50) (show all 594)
# Title Authors PMID Year
1
The Ramsay Hunt syndrome is no longer a useful diagnostic category. 61 56
2494436 1989
2
Ramsay Hunt syndrome, Unverricht-Lundborg disease, or what? 61 56
2494437 1989
3
The Ramsay Hunt syndrome is a useful clinical entity. 61 56
2494439 1989
4
Familial myoclonus and ataxia. Pathophysiologic implications. 61 56
13947815 1963
5
Progressive myoclonus epilepsies: specific causes and diagnosis. 56
3088452 1986
6
Familial chorea and myoclonus epilepsy. 56
99688 1978
7
Combined degeneration of globus pallidus and dentate nucleus and their projections. 56
13657305 1959
8
Clinical and electrophysiological characteristics of a type 1 sialidosis patient with a novel deletion mutation in NEU1 gene. 61
31371146 2020
9
Concurrent treatment with intratympanic dexamethasone improves facial nerve recovery in Ramsay Hunt syndrome. 61
31945626 2020
10
Ramsay Hunt syndrome: characteristics and patient self-assessed long-term facial palsy outcome. 61
31982948 2020
11
Ramsay-Hunt syndrome and subsequent sensory neuropathy as potential immune-related adverse events of nivolumab: a case report. 61
31842803 2019
12
A case report of Ramsay Hunt syndrome in a patient with HIV treated by dual-wavelength photodynamic therapy. 61
31622771 2019
13
A Case of Disseminated Zoster in an Immunocompetent Patient. 61
31911878 2019
14
Atypical clinical manifestations of herpes zoster oticus: diagnostic usefulness of magnetic resonance imaging. 61
31278535 2019
15
Meningitis and Ramsay-Hunt syndrome in a 17-year old girl. 61
31816219 2019
16
A Case of Varicella-Zoster Meningoencephalitis Presented by Ramsay Hunt Syndrome. 61
31750207 2019
17
Contrast-enhanced magnetic resonance imaging of facial nerve swelling in patients with severe Ramsay Hunt syndrome. 61
30630650 2019
18
Ramsay Hunt syndrome: a rare complication of herpes zoster infection in a lung cancer patient. 61
30189789 2019
19
Ramsay Hunt syndrome. 61
31594834 2019
20
Differential diagnosis of peripheral facial nerve palsy: a retrospective clinical, MRI and CSF-based study. 61
31250103 2019
21
Electroneurography value as an indicator of high risk for the development of moderate-to-severe synkinesis after Bell's palsy and Ramsay Hunt syndrome. 61
31268392 2019
22
[Trigeminal herpes zoster with Ramsay Hunt syndrome: a report of one case and review of literature]. 61
31792491 2019
23
Clinical characteristics of autoimmune GFAP astrocytopathy. 61
30991306 2019
24
Visual snow: Not so benign. 61
30910546 2019
25
Peripheral Nerve Block Efficacy on Refractory Neuralgia Complicating Ramsay Hunt Syndrome: A Case Report. 61
31162227 2019
26
Comparison of the efficacy of various doses of steroids for acute facial palsy. 61
30883243 2019
27
For Whom the Bell's Toll: Recurrent Facial Nerve Paralysis, A Retrospective Study and Systematic Review of the Literature. 61
30870370 2019
28
Comparative prognosis in patients with Ramsay-Hunt syndrome and Bell's palsy. 61
30707280 2019
29
Ramsay Hunt Syndrome Associated with True Vocal Cord Palsy- A Case Report. 61
30989078 2019
30
Facial nerve palsy in children: A retrospective study of 124 cases. 61
30144181 2019
31
Opsoclonus in a child with neuroborreliosis: Case report and review of the literature. 61
30655046 2019
32
Ramsay-Hunt syndrome. 61
30771866 2019
33
Ramsay Hunt syndrome with pontine lesion: A case report. 61
30702583 2019
34
Chemokines and matrix metalloproteinases in cerebrospinal fluid of patients with central nervous system complications caused by varicella-zoster virus. 61
30777092 2019
35
Exploring Patient Experience of Facial Nerve Palsy to Inform the Development of a PROM. 61
30859034 2019
36
A High Neutrophil-to-Lymphocyte Ratio Is Associated with Recovery from Ramsay Hunt Syndrome. 61
31117094 2019
37
[Ramsay Hunt syndrome with hearing loss and vertigo]. 61
32027326 2019
38
Brainstem and Cerebellar Involvement in Ramsay Hunt Syndrome. 61
31915561 2019
39
Ramsay Hunt syndrome type II. 61
30137483 2019
40
Ramsay Hunt syndrome. 61
30637343 2018
41
Ramsay Hunt syndrome associated with solitary nucleus, spinal trigeminal nucleus and tract, and vestibular nucleus involvement on sequential magnetic resonance imaging. 61
30168017 2018
42
Prognostic value of the blink reflex test in Bell's palsy and Ramsay-Hunt syndrome. 61
29402606 2018
43
Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old child. 61
29951721 2018
44
Trigeminal herpes zoster and Ramsay Hunt syndrome in an elderly adult: Presentation with prodromal toothache. 61
30465330 2018
45
Delayed transmastoid facial nerve decompression surgery in patients with Ramsay-Hunt syndrome presenting with neurophysiologically complete paralysis. 61
29764274 2018
46
Typical or Atypical Ramsay-Hunt Syndrome in Delayed Facial Palsy After Stapedectomy? 61
30256197 2018
47
Progressive myoclonus ataxia: Time for a new definition? 61
30145808 2018
48
Clinical Characteristics of Dizziness Associated with Acute Peripheral Facial Palsy. 61
29656635 2018
49
Varicella-Zoster Virus Infection and Osteomyelitis of the Skull. 61
29733991 2018
50
Hemorrhagic Stroke and Cerebral Venous Thrombosis: Rare Neurological Sequelae of Chickenpox Infection. 61
30258269 2018

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 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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