MCID: RRM016
MIFTS: 19

Rare Movement Disorder

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Rare Movement Disorder

MalaCards integrated aliases for Rare Movement Disorder:

Name: Rare Movement Disorder 59

Classifications:

Orphanet: 59  
Rare neurological diseases


External Ids:

UMLS via Orphanet 73 C0026650
Orphanet 59 ORPHA102003

Summaries for Rare Movement Disorder

MalaCards based summary : Rare Movement Disorder is related to parkinsonism-dystonia, infantile, 1 and dystonia 12. An important gene associated with Rare Movement Disorder is GBA (Glucosylceramidase Beta). Affiliated tissues include brain, cervix and endothelial.

Related Diseases for Rare Movement Disorder

Diseases in the Movement Disease family:

Rare Movement Disorder

Diseases related to Rare Movement Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 parkinsonism-dystonia, infantile, 1 11.1
2 dystonia 12 11.0
3 dystonia 11, myoclonic 11.0
4 chorea, benign hereditary 10.9
5 choreoathetosis and congenital hypothyroidism with or without pulmonary dysfunction 10.9
6 propriospinal myoclonus 10.9
7 movement disease 10.0
8 huntington disease 9.7
9 multiple system atrophy 1 9.7
10 parkinson disease, late-onset 9.7
11 choreoacanthocytosis 9.7
12 wilson disease 9.7
13 supranuclear palsy, progressive, 1 9.7
14 chorea, childhood-onset, with psychomotor retardation 9.7
15 choreatic disease 9.7
16 endometriosis 9.7
17 dystonia 9.7
18 aminoacidopathies 9.7
19 bobble-head doll syndrome 9.7
20 corticobasal degeneration 9.7
21 myoclonus 9.7

Graphical network of the top 20 diseases related to Rare Movement Disorder:



Diseases related to Rare Movement Disorder

Symptoms & Phenotypes for Rare Movement Disorder

Drugs & Therapeutics for Rare Movement Disorder

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Clinical, Genetic, and Cellular Consequences of Mutations in the NA,K-ATPase ATP1A3 Recruiting NCT00682513

Search NIH Clinical Center for Rare Movement Disorder

Genetic Tests for Rare Movement Disorder

Anatomical Context for Rare Movement Disorder

MalaCards organs/tissues related to Rare Movement Disorder:

41
Brain, Cervix, Endothelial, Subthalamic Nucleus

Publications for Rare Movement Disorder

Articles related to Rare Movement Disorder:

(show top 50) (show all 100)
# Title Authors PMID Year
1
An unusual presentation of bobble-head doll syndrome in a patient with hydranencephaly and Chiari 3 malformation. 38
30726525 2019
2
Hemi Masticatory Spasm: Series of 7 Cases and Review of Literature. 38
31061840 2019
3
Psychiatric and Behavioral Complications of GPi DBS in an Adolescent with Myoclonus Dystonia. 38
31275687 2019
4
The use of smartphone in measuring stance and gait patterns in patients with orthostatic tremor. 38
31318952 2019
5
Reproducible network and regional topographies of abnormal glucose metabolism associated with progressive supranuclear palsy: Multivariate and univariate analyses in American and Chinese patient cohorts. 38
29536636 2018
6
Hemiballismus in Uncontrolled Diabetes Mellitus. 38
29788710 2018
7
Belly dancer's dyskinesia: A rare movement disorder. 38
29503345 2018
8
Successful Treatment of Holmes Tremor With Deep Brain Stimulation of the Prelemniscal Radiations. 38
29904635 2018
9
Hyperglycaemic Hemichorea. 38
30756023 2018
10
Paroxysmal Dyskinesias in a PRRT2 Mutation Carrier. 38
30622840 2018
11
Misdiagnosed atypical paroxysmal kinesigenic dyskinesia: a case report. 38
29892195 2018
12
Depression, anxiety, and quality of life in paroxysmal kinesigenic dyskinesia patients. 38
28836553 2017
13
Measuring Disability in Patients With Cervical Dystonia According to the International Classification of Functioning, Disability and Health. 38
28621218 2017
14
Oculogyric crises: A review of phenomenology, etiology, pathogenesis, and treatment. 38
28218460 2017
15
Sporadic hyperekplexia due to self-limiting brainstem encephalopathy. 38
29062233 2017
16
Palatal and Oromandibular Tremor Secondary to Degenerative Olivary Hypertrophy After Ependymoma Surgery. 38
27564077 2016
17
Essential rhythmic palatal myoclonus in a 51-year-old man. 38
29497553 2016
18
Patience is the key: Contraceptive induced chorea in a girl with Down Syndrome. 38
27053142 2016
19
Early deep brain stimulation in patients with myoclonus-dystonia syndrome. 38
26810467 2016
20
Painful leg and moving toes syndrome in secondary tethered cord syndrome. 38
25664587 2016
21
The role of mutations in COL6A3 in isolated dystonia. 38
26872670 2016
22
A Case of Painless Legs and Moving Toes Syndrome in Parkinson's Disease Responsive to Dopaminergic Therapy. 38
27648321 2016
23
An Unusual Startling. 38
26702184 2015
24
New insights into the genetics of X-linked dystonia-parkinsonism (XDP, DYT3). 38
25604858 2015
25
The CACNA1B R1389H variant is not associated with myoclonus-dystonia in a large European multicentric cohort. 38
26157024 2015
26
Clinical presentation and management of proatlas segmentation defect presenting with palatal myoclonus: case report. 38
26023804 2015
27
A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia. 38
25983243 2015
28
Increased interhemispheric resting-state functional connectivity in paroxysmal kinesigenic dyskinesia: a resting-state fMRI study. 38
25783010 2015
29
Hemiballism with leg predominance caused by contralateral subthalamic haemorrhage. 38
25858962 2015
30
A family with paroxysmal nonkinesigenic dyskinesias (PNKD): evidence of mitochondrial dysfunction. 38
25453601 2015
31
Suprasellar arachnoid cyst presenting with bobble-head doll syndrome: Report of three cases. 38
25878736 2015
32
Opsoclonus-myoclonus syndrome after adenovirus infection. 38
26543770 2015
33
Low dose of clonazepam is effective in the treatment of painless legs and moving toes syndrome: a case report. 38
25873890 2015
34
Chorea-ballism associated with ketotic hyperglycemia. 38
25262066 2014
35
Visual signs and symptoms of multiple system atrophy. 38
25256122 2014
36
Severe familial paroxysmal exercise-induced dyskinesia. 38
25099510 2014
37
Bilateral gluteal dyskinesia: discussion of a rare movement disorder. 38
24678444 2014
38
Hemimasticatory spasm: report of a case and review of the literature†. 38
24757582 2014
39
Clinical diagnosis of propriospinal myoclonus is unreliable: an electrophysiologic study. 38
24105950 2013
40
Bilateral deep brain stimulation of the subthalamic nucleus effectively relieves dystonia secondary to Fahr's disease: a case report. 38
23384486 2013
41
Teaching Video NeuroImages: a teenager with a rare movement disorder. 38
23817523 2013
42
Essential palatal tremor treated with botulinum toxin. 38
23583064 2013
43
PRRT2 mutation causes paroxysmal kinesigenic dyskinesia and hemiplegic migraine in monozygotic twins. 38
23182655 2013
44
Non-ketotic hyperglycaemia hemichorea-hemiballismus and acute ischaemic stroke. 38
23470671 2013
45
α3Na+/K+-ATPase deficiency causes brain ventricle dilation and abrupt embryonic motility in zebrafish. 38
23400780 2013
46
[Antiphospolipid syndrome related chorea gravidarum case with psychotic symptoms misdiagnosed as conversion disorder: case report]. 38
24310096 2013
47
A point mutation in ε-sarcoglycan induces inherited myoclonus dystonia syndrome in a Chinese family. 38
23641306 2013
48
Dystonia in a patient with melanoma metastatic to the brain treated with high-dose interleukin-2, radiation therapy, and levetiracetam. 38
23467479 2013
49
Propriospinal myoclonus associated with gluten sensitivity in a young woman. 38
22225790 2012
50
Hemiballismus: current concepts and review. 38
21930415 2012

Variations for Rare Movement Disorder

ClinVar genetic disease variations for Rare Movement Disorder:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 GBA NM_001005741.3(GBA): c.1448T> C (p.Leu483Pro) single nucleotide variant Pathogenic/Likely pathogenic,risk factor rs421016 1:155205043-155205043 1:155235252-155235252
2 46;XY;t(1;6)(q23;q13)dn Translocation Uncertain significance
3 ITPR1 NM_001168272.1(ITPR1): c.2432C> T (p.Ser811Phe) single nucleotide variant Uncertain significance rs1553686424 3:4715906-4715906 3:4674222-4674222

Expression for Rare Movement Disorder

Search GEO for disease gene expression data for Rare Movement Disorder.

Pathways for Rare Movement Disorder

GO Terms for Rare Movement Disorder

Sources for Rare Movement Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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