MRMV1
MCID: MRR011
MIFTS: 30

Mirror Movements 1 (MRMV1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases

Aliases & Classifications for Mirror Movements 1

Aliases & Descriptions for Mirror Movements 1:

Name: Mirror Movements 1 54 24 66 29 13
Congenital Mirror Movements 23 50 25 66
Bimanual Synergia 50 24 25 66
Congenital Mirror Movement Disorder 23 50 25
Hereditary Congenital Controlateral Synkinesia 50 56
Familial Congenital Controlateral Synkinesia 50 56
Isolated Congenital Controlateral Synkinesia 50 56
Hereditary Congenital Mirror Movements 50 56
Familial Congenital Mirror Movements 50 56
Isolated Congenital Mirror Movements 50 56
Bimanual Synkinesis 50 25
Mirror Movements 50 25
Cmm 50 25
Mirror Movements, Congenital 24
Mrmv1 66

Characteristics:

Orphanet epidemiological data:

56
familial congenital mirror movements
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy; Age of death: normal life expectancy;

GeneReviews:

23
mirror movements 1:
Inheritance autosomal dominant inheritance
Onset and clinical course incomplete penetrance


GeneReviews:

23
Penetrance Penetrance does not appear to be sex-related or age-related, as mirror movements are present from early childhood in all symptomatic individuals...

Classifications:

Orphanet: 56  
Rare neurological diseases


External Ids:

OMIM 54 157600
Orphanet 56 ORPHA238722
MedGen 40 C1834870
MeSH 42 D020820

Summaries for Mirror Movements 1

NIH Rare Diseases : 50 congenital mirror movement disorder (cmm) is a rare condition that is characterized by mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side). affected people generally develop these movements in infancy or early childhood, which usually persist throughout their life without any related signs or symptoms. in most cases, the involuntary movements are noticeable but less pronounced than the corresponding voluntary movements; however, the severity of symptoms can vary significantly, even among family members. cmm can be caused by changes (mutations) in the dcc or rad51 genes and inherited in an autosomal dominant manner. in some families, the exact underlying cause of cmm is unknown. last updated: 5/4/2015

MalaCards based summary : Mirror Movements 1, also known as congenital mirror movements, is related to mirror movements 2 and mirror movements 3, and has symptoms including bimanual synkinesia An important gene associated with Mirror Movements 1 is DCC (DCC Netrin 1 Receptor), and among its related pathways/superpathways is Pathways in cancer. The drugs Benzocaine and tannic acid have been mentioned in the context of this disorder. Related phenotype is Synthetic lethal with MLN4924 (a NAE inhibitor).

Genetics Home Reference : 25 Congenital mirror movement disorder is a condition in which intentional movements of one side of the body are mirrored by involuntary movements of the other side. For example, when an affected individual makes a fist with the right hand, the left hand makes a similar movement. The mirror movements in this disorder primarily involve the upper limbs, especially the hands and fingers. This pattern of movements is present from infancy or early childhood and usually persists throughout life, without other associated signs and symptoms. Intelligence and lifespan are not affected.

OMIM : 54 Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are... (157600) more...

UniProtKB/Swiss-Prot : 66 Mirror movements 1: A disorder characterized by contralateral involuntary movements that mirror voluntary ones. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Mirror movements occur more commonly in the upper extremities.

GeneReviews: NBK279760

Related Diseases for Mirror Movements 1

Diseases in the Mirror Movements 1 family:

Mirror Movements 2 Mirror Movements 3

Diseases related to Mirror Movements 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
id Related Disease Score Top Affiliating Genes
1 mirror movements 2 12.4
2 mirror movements 3 12.3
3 malignant melanoma, somatic 11.4
4 klippel-feil syndrome 10.1
5 kallmann syndrome 10.0
6 melanoma 10.0
7 cervicitis 9.9
8 polymicrogyria 9.9
9 nail disorder, nonsyndromic congenital, 3, 9.8 DCC RAD51
10 dysplastic nevus syndrome 9.8
11 cerebral palsy 9.8
12 porencephaly 9.8
13 meningocele 9.7
14 meningitis 9.7
15 colpocephaly 9.7
16 attention deficit-hyperactivity disorder 9.7
17 neurenteric cyst 9.7
18 seckel syndrome 9.7
19 microphthalmia, isolated 3 9.7 DCC RAD51

Graphical network of the top 20 diseases related to Mirror Movements 1:



Diseases related to Mirror Movements 1

Symptoms & Phenotypes for Mirror Movements 1

Symptoms by clinical synopsis from OMIM:

157600

Clinical features from OMIM:

157600

Human phenotypes related to Mirror Movements 1:

32
id Description HPO Frequency HPO Source Accession
1 bimanual synkinesia 32 HP:0001335

GenomeRNAi Phenotypes related to Mirror Movements 1 according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 8.8 DCC
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 8.8 DCC RAD51

Drugs & Therapeutics for Mirror Movements 1

Drugs for Mirror Movements 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
2 tannic acid Approved, Nutraceutical Phase 3
3
Mirabegron Approved Phase 1 223673-61-8
4 Adrenergic Agents Phase 1
5 Adrenergic Agonists Phase 1
6 Adrenergic beta-3 Receptor Agonists Phase 1
7 Adrenergic beta-Agonists Phase 1
8 Neurotransmitter Agents Phase 1
9
Salicylic acid Approved, Vet_approved 69-72-7 338
10
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
11
Alginic acid 9005-32-7
12 Dermatologic Agents
13 Anti-Infective Agents
14 Antifungal Agents
15 Keratolytic Agents

Interventional clinical trials:

(show all 33)
id Name Status NCT ID Phase
1 Effectiveness of Mirror Therapy in Stroke Patients With Unilateral Neglect - A Randomized Controlled Trial Completed NCT01735877 Phase 3
2 Early Independent Adaptive Arm and Hand Rehab Not yet recruiting NCT02749500 Phase 3
3 Use of Tendon Vibration and Mirror for the Improvement of Upper Limb Function and Pain Reduction Unknown status NCT01010607 Phase 1, Phase 2
4 Physiotherapy on the Airway of Bruxist Children Completed NCT01178229 Phase 1, Phase 2
5 Robot Assisted Upper Limb Neuro-Rehabilitation Completed NCT00011583 Phase 2
6 The Influence of Head and Neck Position About Oropharyngeal Leak Pressure and Sealing Between the Laryngeal Mask and Vocal Cord Using Different Types of Supraglottic Airway Device Completed NCT01960673 Phase 1, Phase 2
7 Physiological Responses and Adaptation of Brown Adipose Tissue to Chronic Treatment With Beta 3-Adrenergic Receptor Agonists Recruiting NCT03049462 Phase 1
8 Physical Therapy and Deep Brain Stimulation in Parkinson Disease Recruiting NCT03181282 Phase 1
9 Robot- Versus Mirror-Assisted Rehabilitation in Stroke Patients Unknown status NCT01724164
10 Effects of RR and MT on Patient With Stroke Unknown status NCT01655446
11 Study to Assess the Efficacy of Direct Observation and Mental Visualization of Foot Movements to Treat Bilateral Lower Limb Phantom Limb Pain Unknown status NCT00639431
12 Robot-Assisted Therapy in Stroke Patients Unknown status NCT00917605
13 Effectiveness of a Jaw Exercise Program in Temporomandibular Disorders Patients Unknown status NCT02397070
14 Role of the SMA During Unimanual and Bimanual Movements Preparation: the Mirror Movements Paradigm Completed NCT02073604
15 Study of a Large Family With Congenital Mirror Movements : From Underlying Pathophysiology to Culprit Gene Identification PROJET " MOMIC " Completed NCT01075061
16 Effect of Motor Relearning Programme and Mirror Therapy Along for Improving Hand Function In Patients With Stroke. Completed NCT02338557
17 Effects and Mechanisms of Treatment Intensity of Mirror Therapy in Patients With Subacute Stroke Completed NCT01655160
18 Exploring a Motor Learning Technique Based on the Mirror Motor Neuron System Completed NCT00872183
19 Effects of Intensive Robot-assisted Therapy in Patients With Subacute Stroke Completed NCT01767480
20 Walking Adaptability Post-Spinal Cord Injury Completed NCT01851629
21 Effects of Motor Cognitive Training on Functional Loss After Osteoporotic Wrist Fractures Completed NCT01394809
22 Observed Actions in Chronic Neck Pain Completed NCT02553759
23 Short-term Outcomes of Iridoplasty for Persistent Angle Closure Despite Patent Iridotomies Completed NCT02199158
24 The Effects of Mirror Therapy on Upper Extremity in Stroke Patients Completed NCT01656876
25 Effects of Home-based Mirror Therapy Combined With Task-oriented Training for Patients With Stroke Completed NCT02432755
26 Differences in Brain Processing of First and Second Languages (Korean and English) Completed NCT00016510
27 Comparative Efficacy Research of Uni- vs Bi-lateral Arm Training Poststroke Completed NCT01525979
28 Reaching Training Based on Robotic Hybrid Assistance for Stroke Patients Recruiting NCT03171649
29 PC MIROIR : Effects of Mirror Therapy in Children With Hemiplegic Cerebral Palsy Recruiting NCT02131909
30 Hybrid Approach to Mirror Therapy and Transcranial Direct Current Stimulation for Stroke Recovery Recruiting NCT02254616
31 Comparative Efficacy Study of Action Observation Therapy and Mirror Therapy After Stroke Recruiting NCT02871700
32 Graded Motor Imagery for Women at Risk for Developing Type I CRPS Following Closed Treatment of Distal Radius Fractures Not yet recruiting NCT02957240
33 Efficacy of Unilateral Versus Bilateral Approach to Robot-Assisted Rehabilitation in Patients With Subacute Stroke Withdrawn NCT01939041

Search NIH Clinical Center for Mirror Movements 1

Genetic Tests for Mirror Movements 1

Genetic tests related to Mirror Movements 1:

id Genetic test Affiliating Genes
1 Mirror Movements 1 29 24 DCC

Anatomical Context for Mirror Movements 1

Publications for Mirror Movements 1

Variations for Mirror Movements 1

ClinVar genetic disease variations for Mirror Movements 1:

6 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1 DCC DCC, IVS6, G-A, +1 single nucleotide variant Pathogenic
2 DCC DCC, 1-BP INS, 571G insertion Pathogenic
3 DCC DCC, 2-BP DEL, 3835CT deletion Pathogenic
4 DCC NM_005215.3(DCC): c.2871_2875dupAGGGA (p.Pro960Glyfs) duplication Pathogenic rs797044555 GRCh38 Chromosome 18, 53402829: 53402833
5 DCC NM_005215.3(DCC): c.3835_3836delCT (p.Leu1279Profs) deletion Pathogenic rs797044556 GRCh38 Chromosome 18, 53486895: 53486896
6 DCC NM_005215.3(DCC): c.377C> A (p.Ser126Ter) single nucleotide variant Pathogenic rs797044551 GRCh38 Chromosome 18, 52752339: 52752339
7 DCC NM_005215.3(DCC): c.571dupG (p.Val191Glyfs) duplication Pathogenic rs797044552 GRCh38 Chromosome 18, 52906202: 52906202
8 DCC NM_005215.3(DCC): c.823C> T (p.Arg275Ter) single nucleotide variant Pathogenic rs754914260 GRCh38 Chromosome 18, 52923832: 52923832
9 DCC NM_005215.3(DCC): c.1140+1G> A (p.V329GfsTer15) single nucleotide variant Pathogenic rs797044553 GRCh38 Chromosome 18, 53063460: 53063460
10 DCC NM_005215.3(DCC): c.1336_1337insAGCC (p.Arg446Glnfs) insertion Pathogenic rs797044554 GRCh38 Chromosome 18, 53157430: 53157431
11 DCC NM_005215.3(DCC): c.698-?_985+?del (p.Asp233_Leu328del) deletion Pathogenic

Expression for Mirror Movements 1

Search GEO for disease gene expression data for Mirror Movements 1.

Pathways for Mirror Movements 1

Pathways related to Mirror Movements 1 according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 11.22 DCC RAD51

GO Terms for Mirror Movements 1

Sources for Mirror Movements 1

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 Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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