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Mirror movements 1(MRMV1)

MedGen UID:
320461
Concept ID:
C1834870
Finding
Synonym: MRMV1
 
Gene (location): DCC (18q21.2)
 
Monarch Initiative: MONDO:0008002
OMIM®: 157600

Disease characteristics

Excerpted from the GeneReview: Congenital Mirror Movements
The disorder of congenital mirror movements (CMM) is characterized by early-onset, obvious mirror movements (involuntary movements of one side of the body that mirror intentional movements on the opposite side) in individuals who typically have no other clinical signs or symptoms. Although mirror movements vary in severity, most affected individuals have strong and sustained mirror movements of a lesser amplitude than the corresponding voluntary movements. Mirror movements usually persist throughout life, without deterioration or improvement, and are not usually associated with subsequent onset of additional neurologic manifestations. However, a subset of affected individuals with a heterozygous pathogenic variant in DCC may have CMM with abnormalities of the corpus callosum and concomitant cognitive and/or neuropsychiatric issues. [from GeneReviews]
Authors:
Aurélie Méneret  |  Oriane Trouillard  |  Margaux Dunoyer, et. al.   view full author information

Additional description

From OMIM
Mirror movements are contralateral involuntary movements that mirror voluntary ones. Whereas mirror movements are occasionally found in normal young children, persistence beyond the age of 10 years is abnormal. Congenital mirror movements tend to persist throughout adulthood and tend to occur more commonly in the upper extremities (summary by Sharafaddinzadeh et al., 2008 and Srour et al., 2010). Some patients with DCC mutations have agenesis of the corpus callosum (Marsh et al., 2017). Genetic Heterogeneity of Mirror Movements See also MRMV2 (614508), caused by mutation in the RAD51 gene (179617) on chromosome 15q15; MRMV3 (606059), caused by mutation in the DNAL4 gene (610565) on chromosome 22q13; and MRMV4 (618264), caused by mutation in the NTN1 gene (601614) on chromosome 17p13.  http://www.omim.org/entry/157600

Clinical features

From HPO
Intellectual disability, mild
MedGen UID:
10044
Concept ID:
C0026106
Mental or Behavioral Dysfunction
Mild intellectual disability is defined as an intelligence quotient (IQ) in the range of 50-69.
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
Bimanual synkinesia
MedGen UID:
473166
Concept ID:
C0454455
Disease or Syndrome
Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.

Professional guidelines

PubMed

Guémann M, Olié E, Raquin L, Courtet P, Risch N
Eur J Pain 2023 Jan;27(1):3-13. Epub 2022 Sep 19 doi: 10.1002/ejp.2035. PMID: 36094758Free PMC Article
Albanese A, Di Giovanni M, Lalli S
Eur J Neurol 2019 Jan;26(1):5-17. Epub 2018 Aug 18 doi: 10.1111/ene.13762. PMID: 30035844
McCabe CS, Haigh RC, Blake DR
Curr Pain Headache Rep 2008 Apr;12(2):103-7. doi: 10.1007/s11916-008-0020-7. PMID: 18474189

Recent clinical studies

Etiology

Borges LR, Fernandes AB, Oliveira Dos Passos J, Rego IAO, Campos TF
Cochrane Database Syst Rev 2022 Aug 5;8(8):CD011887. doi: 10.1002/14651858.CD011887.pub3. PMID: 35930301Free PMC Article
Xie HM, Zhang KX, Wang S, Wang N, Wang N, Li X, Huang LP
Arch Phys Med Rehabil 2022 May;103(5):988-997. Epub 2021 Aug 28 doi: 10.1016/j.apmr.2021.07.810. PMID: 34461084
Zaheer A, Malik AN, Masood T, Fatima S
BMC Neurol 2021 Oct 27;21(1):416. doi: 10.1186/s12883-021-02441-z. PMID: 34706654Free PMC Article
Thieme H, Morkisch N, Mehrholz J, Pohl M, Behrens J, Borgetto B, Dohle C
Cochrane Database Syst Rev 2018 Jul 11;7(7):CD008449. doi: 10.1002/14651858.CD008449.pub3. PMID: 29993119Free PMC Article
Pollock A, Farmer SE, Brady MC, Langhorne P, Mead GE, Mehrholz J, van Wijck F
Cochrane Database Syst Rev 2014 Nov 12;2014(11):CD010820. doi: 10.1002/14651858.CD010820.pub2. PMID: 25387001Free PMC Article

Diagnosis

Albanese A, Di Giovanni M, Lalli S
Eur J Neurol 2019 Jan;26(1):5-17. Epub 2018 Aug 18 doi: 10.1111/ene.13762. PMID: 30035844
Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW; IRC5 Consortium, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ
Hum Mutat 2018 Jan;39(1):23-39. Epub 2017 Nov 11 doi: 10.1002/humu.23361. PMID: 29068161Free PMC Article
Dunkel L, Quinton R
Eur J Endocrinol 2014 Jun;170(6):R229-39. Epub 2014 May 17 doi: 10.1530/EJE-13-0894. PMID: 24836550
Szirmai I
Ideggyogy Sz 2010 Jan 30;63(1-2):13-23. PMID: 20420120
Moseley GL
Neurology 2006 Dec 26;67(12):2129-34. Epub 2006 Nov 2 doi: 10.1212/01.wnl.0000249112.56935.32. PMID: 17082465

Therapy

Zhang Y, Xing Y, Li C, Hua Y, Hu J, Wang Y, Ya R, Meng Q, Bai Y
Eur J Neurol 2022 Jan;29(1):358-371. Epub 2021 Oct 5 doi: 10.1111/ene.15122. PMID: 34558762
Xie HM, Zhang KX, Wang S, Wang N, Wang N, Li X, Huang LP
Arch Phys Med Rehabil 2022 May;103(5):988-997. Epub 2021 Aug 28 doi: 10.1016/j.apmr.2021.07.810. PMID: 34461084
Aternali A, Katz J
F1000Res 2019;8 Epub 2019 Jul 23 doi: 10.12688/f1000research.19355.1. PMID: 31354940Free PMC Article
Thieme H, Morkisch N, Mehrholz J, Pohl M, Behrens J, Borgetto B, Dohle C
Cochrane Database Syst Rev 2018 Jul 11;7(7):CD008449. doi: 10.1002/14651858.CD008449.pub3. PMID: 29993119Free PMC Article
Pollock A, Farmer SE, Brady MC, Langhorne P, Mead GE, Mehrholz J, van Wijck F
Cochrane Database Syst Rev 2014 Nov 12;2014(11):CD010820. doi: 10.1002/14651858.CD010820.pub2. PMID: 25387001Free PMC Article

Prognosis

Brown DD, Bosga J, Meulenbroek RGJ
Motor Control 2020 Oct 29;25(1):75-88. doi: 10.1123/mc.2020-0012. PMID: 33120357
Tisseyre J, Amarantini D, Chalard A, Marque P, Gasq D, Tallet J
Neuroscience 2018 May 21;379:246-256. Epub 2018 Mar 26 doi: 10.1016/j.neuroscience.2018.03.027. PMID: 29592842
Marsh APL, Edwards TJ, Galea C, Cooper HM, Engle EC, Jamuar SS, Méneret A, Moutard ML, Nava C, Rastetter A, Robinson G, Rouleau G, Roze E, Spencer-Smith M, Trouillard O, Billette de Villemeur T, Walsh CA, Yu TW; IRC5 Consortium, Heron D, Sherr EH, Richards LJ, Depienne C, Leventer RJ, Lockhart PJ
Hum Mutat 2018 Jan;39(1):23-39. Epub 2017 Nov 11 doi: 10.1002/humu.23361. PMID: 29068161Free PMC Article
Keyser J, Medendorp WP, Selen LPJ
J Neurophysiol 2017 Jul 1;118(1):84-92. Epub 2017 Mar 29 doi: 10.1152/jn.00112.2017. PMID: 28356472Free PMC Article
Bonini L, Ferrari PF
Ann N Y Acad Sci 2011 Apr;1225(1):166-75. doi: 10.1111/j.1749-6632.2011.06002.x. PMID: 21535003Free PMC Article

Clinical prediction guides

Borges LR, Fernandes AB, Oliveira Dos Passos J, Rego IAO, Campos TF
Cochrane Database Syst Rev 2022 Aug 5;8(8):CD011887. doi: 10.1002/14651858.CD011887.pub3. PMID: 35930301Free PMC Article
Rajendram C, Ken-Dror G, Han T, Sharma P
BMJ Mil Health 2022 Apr;168(2):173-177. Epub 2022 Jan 18 doi: 10.1136/bmjmilitary-2021-002018. PMID: 35042760
Xie HM, Zhang KX, Wang S, Wang N, Wang N, Li X, Huang LP
Arch Phys Med Rehabil 2022 May;103(5):988-997. Epub 2021 Aug 28 doi: 10.1016/j.apmr.2021.07.810. PMID: 34461084
Zaheer A, Malik AN, Masood T, Fatima S
BMC Neurol 2021 Oct 27;21(1):416. doi: 10.1186/s12883-021-02441-z. PMID: 34706654Free PMC Article
Thieme H, Mehrholz J, Pohl M, Behrens J, Dohle C
Cochrane Database Syst Rev 2012 Mar 14;2012(3):CD008449. doi: 10.1002/14651858.CD008449.pub2. PMID: 22419334Free PMC Article

Recent systematic reviews

Guémann M, Olié E, Raquin L, Courtet P, Risch N
Eur J Pain 2023 Jan;27(1):3-13. Epub 2022 Sep 19 doi: 10.1002/ejp.2035. PMID: 36094758Free PMC Article
Zhang Y, Xing Y, Li C, Hua Y, Hu J, Wang Y, Ya R, Meng Q, Bai Y
Eur J Neurol 2022 Jan;29(1):358-371. Epub 2021 Oct 5 doi: 10.1111/ene.15122. PMID: 34558762
Xie HM, Zhang KX, Wang S, Wang N, Wang N, Li X, Huang LP
Arch Phys Med Rehabil 2022 May;103(5):988-997. Epub 2021 Aug 28 doi: 10.1016/j.apmr.2021.07.810. PMID: 34461084
Thieme H, Morkisch N, Mehrholz J, Pohl M, Behrens J, Borgetto B, Dohle C
Cochrane Database Syst Rev 2018 Jul 11;7(7):CD008449. doi: 10.1002/14651858.CD008449.pub3. PMID: 29993119Free PMC Article
Pollock A, Farmer SE, Brady MC, Langhorne P, Mead GE, Mehrholz J, van Wijck F
Cochrane Database Syst Rev 2014 Nov 12;2014(11):CD010820. doi: 10.1002/14651858.CD010820.pub2. PMID: 25387001Free PMC Article

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