KEGG   DISEASE: Congenital mirror movementsHelp
Entry
H01287                      Disease                                

Name
Congenital mirror movements
Description
Mirror movements (MRMV) are involuntary movements of one side of the body that mirror intentional movements on the opposite side. While mirror movements are occasionally found in young children, persistence beyond the age of 10 is abnormal. Congenital mirror movements is a rare disorder that is mainly inherited in an autosomal-dominant fashion. Mutations in DCC, the gene encoding receptor for netrin 1 have been identified in MRMV patients. It has also been reported that RAD51 haploinsufficiency causes the heterogeneous MRMV.
Category
Nervous system disease
Brite
Human diseases [BR:br08402]
 Nervous system diseases
  Other nervous and sensory system diseases
   H01287  Congenital mirror movements
Human diseases in ICD-11 classification [BR:br08403]
 08 Diseases of the nervous system
  Movement disorders
   8A07  Certain specified movement disorder
    H01287  Congenital mirror movements
BRITE hierarchy
Pathway
hsa04360  Axon guidance
hsa03440  Homologous recombination
Gene
(MRMV1) DCC [HSA:1630] [KO:K06765]
(MRMV2) RAD51A [HSA:5888] [KO:K04482]
(MRMV3) DNAL4 [HSA:10126] [KO:K10412]
Other DBs
ICD-11: 8A07.Y
ICD-10: G25.8
OMIM: 157600 614508 616059
Reference
  Authors
Srour M, Riviere JB, Pham JM, Dube MP, Girard S, Morin S, Dion PA, Asselin G, Rochefort D, Hince P, Diab S, Sharafaddinzadeh N, Chouinard S, Theoret H, Charron F, Rouleau GA
  Title
Mutations in DCC cause congenital mirror movements.
  Journal
Science 328:592 (2010)
DOI:10.1126/science.1186463
Reference
  Authors
Depienne C, Bouteiller D, Meneret A, Billot S, Groppa S, Klebe S, Charbonnier-Beaupel F, Corvol JC, Saraiva JP, Brueggemann N, Bhatia K, Cincotta M, Brochard V, Flamand-Roze C, Carpentier W, Meunier S, Marie Y, Gaussen M, Stevanin G, Wehrle R, Vidailhet M, Klein C, Dusart I, Brice A, Roze E
  Title
RAD51 haploinsufficiency causes congenital mirror movements in humans.
  Journal
Am J Hum Genet 90:301-7 (2012)
DOI:10.1016/j.ajhg.2011.12.002
Reference
  Authors
Ahmed I, Mittal K, Sheikh TI, Vasli N, Rafiq MA, Mikhailov A, Ohadi M, Mahmood H, Rouleau GA, Bhatti A, Ayub M, Srour M, John P, Vincent JB
  Title
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder.
  Journal
Hum Genet 133:1419-29 (2014)
DOI:10.1007/s00439-014-1475-8

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