MCID: MYC078
MIFTS: 35

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 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

Summaries for Myoclonus and Ataxia

NINDS : 54 Herpes zoster oticus, also called Ramsay Hunt Syndrome or Ramsay Hunt Syndrome type II, is a common complication of shingles. Shingles is an infection caused by the varicella-zoster virus, which is the virus that causes chickenpox. Shingles occurs in people who have had chickenpox and represents a reactivation of the dormant varicella-zoster virus. Herpes zoster oticus, which is caused by the spread of the varicella-zoster virus to facial nerves, is characterized by intense ear pain, a rash around the ear, mouth, face, neck, and scalp, and paralysis of facial nerves. Other symptoms may include hearing loss, vertigo (abnormal sensation of movement), and tinnitus (abnormal sounds). Taste loss in the tongue and dry mouth and eyes may also occur.

MalaCards based summary : Myoclonus and Ataxia, also known as ramsay hunt syndrome, is related to ramsay hunt syndrome i and geniculate ganglionitis, 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 Antirheumatic Agents have been mentioned in the context of this disorder. Affiliated tissues include eye, tongue and brain, 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 top 50) (show all 63)
# Related Disease Score Top Affiliating Genes
1 ramsay hunt syndrome i 12.6
2 geniculate ganglionitis 11.3
3 myoclonic epilepsy of unverricht and lundborg 11.2
4 myoclonic cerebellar dyssynergia 11.1
5 geniculate herpes zoster 11.1
6 galactosialidosis 11.0
7 herpes zoster 10.7
8 bell's palsy 10.6
9 polyneuropathy 10.5
10 facial paralysis 10.5
11 viral infectious disease 10.4
12 encephalitis 10.4
13 myoclonus 10.3
14 acoustic neuroma 10.3
15 neuritis 10.3
16 epilepsy 10.3
17 neuroma 10.3
18 laryngitis 10.3
19 meningitis 10.3
20 dysphagia 10.3
21 rheumatoid arthritis 10.2
22 lung cancer 10.2
23 arthritis 10.2
24 osteonecrosis 10.2
25 lymphocytic leukemia 10.2
26 chickenpox 10.2
27 leukemia, chronic lymphocytic 2 10.0
28 dentatorubral-pallidoluysian atrophy 10.0
29 leukemia, chronic lymphocytic 10.0
30 mitochondrial myopathy 10.0
31 immunodysregulation, polyendocrinopathy, and enteropathy, x-linked 10.0
32 stroke, ischemic 10.0
33 focal segmental glomerulosclerosis 1 10.0
34 leukemia, acute lymphoblastic 10.0
35 crohn's disease 10.0
36 diabetes mellitus 10.0
37 focal segmental glomerulosclerosis 10.0
38 leukemia 10.0
39 atrial fibrillation 10.0
40 osteomyelitis 10.0
41 petrositis 10.0
42 gastroparesis 10.0
43 aseptic meningitis 10.0
44 brain stem infarction 10.0
45 myopathy 10.0
46 infertility 10.0
47 human immunodeficiency virus infectious disease 10.0
48 influenza 10.0
49 herpes simplex 10.0
50 neuropathy 10.0

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 abnormality of the mitochondrion 32 HP:0012103
6 abnormality of the dentate nucleus 32 HP:0100321
7 pallidal degeneration 32 HP:0007132
8 generalized-onset seizure 32 occasional (7.5%) HP:0002197

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 Antirheumatic Agents Phase 2
3 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)

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
Eye, Tongue, Brain, Globus Pallidus, Kidney, Lung, B Cells

Publications for Myoclonus and Ataxia

Articles related to Myoclonus and Ataxia:

(show top 50) (show all 279)
# 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
Trigeminal herpes zoster and Ramsay Hunt syndrome in an elderly adult: Presentation with prodromal toothache. ( 30465330 )
2018
4
Ramsay Hunt syndrome: a rare complication of herpes zoster infection in a lung cancer patient. ( 30189789 )
2018
5
Mandibular Osteomyelitis as a Complication of Ramsay Hunt Syndrome in an Elderly Patient. ( 29544592 )
2018
6
Direction-fixed and Direction-changing Positional Nystagmus in Ramsay Hunt Syndrome. ( 29342047 )
2018
7
Ramsay Hunt Syndrome with Multiple Cranial Neuropathy in an Human Immunodeficiency Virus (HIV) Patient. ( 29343679 )
2018
8
Bilateral taste disorders in patients with Ramsay Hunt syndrome and Bell palsy. ( 29537615 )
2018
9
Delayed transmastoid facial nerve decompression surgery in patients with Ramsay-Hunt syndrome presenting with neurophysiologically complete paralysis. ( 29764274 )
2018
10
Ramsay Hunt Syndrome type II. ( 30137483 )
2018
11
Ramsay Hunt syndrome associated with solitary nucleus, spinal trigeminal nucleus and tract, and vestibular nucleus involvement on sequential magnetic resonance imaging. ( 30168017 )
2018
12
Typical or Atypical Ramsay-Hunt Syndrome in Delayed Facial Palsy After Stapedectomy? ( 30256197 )
2018
13
Usefulness of High-Resolution 3D Multi-Sequences for Peripheral Facial Palsy: Differentiation Between Bell's Palsy and Ramsay Hunt Syndrome. ( 29135869 )
2017
14
Facial paralysis due to Ramsay Hunt syndrome - A rare condition. ( 28614529 )
2017
15
Prognostic factors of Bell's palsy and Ramsay Hunt syndrome. ( 28079835 )
2017
16
Clinical Reasoning: A 54-year-old woman with dementia, myoclonus, and ataxia. ( 28696937 )
2017
17
Slowly progressing varicella zoster brainstem encephalitis complicating Ramsay Hunt syndrome in an immunocompetent patient: case report and review of the literature. ( 28905216 )
2017
18
Simultaneous occurrence of trigeminal herpes zoster and Ramsay Hunt syndrome presenting sudden prolonged vertigo. ( 28681308 )
2017
19
Vestibular Restoration and Adaptation in Vestibular Neuritis and Ramsay Hunt Syndrome With Vertigo. ( 28570417 )
2017
20
Ramsay Hunt syndrome with cranial polyneuropathy with features of supraglottitis. ( 28784901 )
2017
21
Comparison of Acyclovir and Famciclovir for Ramsay Hunt Syndrome. ( 28221283 )
2017
22
Ramsay Hunt syndrome. ( 28246227 )
2017
23
Facial diplegia resembling bilateral Ramsay Hunt Syndrome. ( 28431592 )
2017
24
Ramsay Hunt syndrome in a patient with human immunodeficiency virus infection. ( 28442812 )
2017
25
Ramsay Hunt syndrome following middle ear surgery. ( 28472355 )
2017
26
Facial palsy and atrial fibrillation: a special case of Ramsay Hunt syndrome. ( 28705842 )
2017
27
Teaching NeuroImages: Classic Ramsay Hunt syndrome and associated MRI findings. ( 28808175 )
2017
28
Ramsay Hunt Syndrome: A Diagnostic Challenge for General Dental Practitioners. ( 28839425 )
2017
29
Response to Letter to the Editor: "Comparison of Acyclovir and Famciclovir for Ramsay Hunt Syndrome". ( 29065091 )
2017
30
Letter to the Editor Comment on "Ramsay Hunt Syndrome". ( 29065092 )
2017
31
A case study of Ramsay Hunt Syndrome in conjunction with cranial polyneuritis. ( 29381990 )
2017
32
Herpes Zoster Infection Involving Mandibular Division of Trigeminal Nerve and Ramsay Hunt Syndrome with Meningitis in an Immunocompetent Patient: A Rare Association. ( 27504334 )
2016
33
Herpetic cranial polyneuritis mimicking brain stem infarction-an atypical presentation of Ramsay Hunt syndrome. ( 27251418 )
2016
34
Ramsay Hunt Syndrome Associated with Central Nervous System Involvement in an Adult. ( 27366189 )
2016
35
Man With Facial Nerve Palsy and Ear Pain. Ramsay Hunt Syndrome. ( 26707524 )
2016
36
Cerebrospinal fluid viral load and biomarkers of neuronal and glial cells in Ramsay Hunt syndrome. ( 27643680 )
2016
37
Magnetic Resonance Imaging Evidence of Varicella Zoster Virus Polyneuropathy: Involvement of the Glossopharyngeal and Vagus Nerves Associated With Ramsay Hunt Syndrome. ( 27092925 )
2016
38
Concurrent Ramsay Hunt syndrome and disseminated herpes zoster in a patient with relapsed chronic lymphocytic leukemia. ( 27757380 )
2016
39
Ramsay Hunt syndrome. ( 26864575 )
2016
40
Ramsay Hunt syndrome. ( 27497069 )
2016
41
Treatment and Prognosis of Facial Palsy on Ramsay Hunt Syndrome: Results Based on a Review of the Literature. ( 27746846 )
2016
42
A rare case of Ramsay Hunt syndrome following temporomandibular joint surgery. ( 25864001 )
2015
43
Vibration- and Hyperventilation-Induced Nystagmus in Patients with Ramsay Hunt Syndrome with Vertigo. ( 25672836 )
2015
44
A case of Ramsay Hunt syndrome diagnosed after kidney transplantation. ( 26779429 )
2015
45
Trigeminal herpes zoster complicated by Ramsay Hunt syndrome. ( 25607330 )
2015
46
Ramsay Hunt Syndrome Complicated by Brainstem Encephalitis in Varicella-zoster Virus Infection. ( 26612307 )
2015
47
Ramsay Hunt syndrome and zoster laryngitis with multiple cranial nerve involvement. ( 26793453 )
2015
48
Pediatric Ramsay Hunt Syndrome: Analysis of Three Cases. ( 26435868 )
2015
49
Ramsay hunt syndrome. ( 25743481 )
2015
50
Management of ramsay hunt syndrome in an acute palliative care setting. ( 25709192 )
2015

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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