Rare Cardiology News

Disease Profile

Congenital mirror movement disorder

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
<1 / 1 000 000

< 331

US Estimated

< 514

Europe Estimated

Age of onset

Infancy

ageofonset-infancy.svg

ICD-10

-

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

rnn-autosomaldominant.svg

Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

rnn-autosomalrecessive.svg

X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

no.svg

X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

no.svg

Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

no.svg

Not applicable

no.svg

Other names (AKA)

Congenital mirror movements; Bimanual synergia; Bimanual synkinesis;

Categories

Congenital and Genetic Diseases; Nervous System Diseases

Summary

Congenital mirror movement disorder (CMM) is a rare disorder characterized by persistent, involuntary movements on one side of the body that mirror intentional movements on the opposite side of the body.[1][2][3] Mirroring movements are common in early stages of life during development, but they typically disappear during childhood when neurologic development of motor pathways is complete. Mirror movements that do not disappear and persist into adulthood are considered abnormal.[3] In people with CMM, no other neurologic abnormalities are present, distinguishing CMM from other neurologic disorders that cause abnormal mirror movements.[3] CMM can be caused by mutations in the RAD51 or DCC genes.[2][3][4] In some cases, the cause is unknown, but it is likely that mutations in other, unidentified genes are also responsible for CMM.[1] The mutations that cause CMM may be inherited from a parent (familial CMM) or may occur for the first time in a person with no family history of CMM (sporadic CMM). Inheritance of familial CMM usually is autosomal dominant but may be autosomal recessive in rare cases.[1][2][3] Not all people who inherit mutations that cause CMM will have the disorder (a phenomenon known as reduced penetrance).[2] The diagnosis can be made based on the symptoms (a clinical diagnosis) which may be confirmed with genetic testing if a responsible mutation is found.[2] Management of CMM in childhood may include special accommodations in school (such as allowing extra time to complete work and limiting the amount of handwriting), but it should be made clear to teachers that intellectual disability is not associated with CMM.[2] To reduce the risk of pain or discomfort in the hands and arms, people with CMM may benefit from limiting complex movements involving both hands and sustained or repetitive hand activity.[2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
30%-79% of people have these symptoms
Clumsiness
0002312
Easy fatigability
0003388
Morphological abnormality of the corticospinal tract
0002492
Poor fine motor coordination
0007010
5%-29% of people have these symptoms
Agenesis of corpus callosum
0001274
Dysgenesis of the hippocampus
0025101
Myalgia
Muscle ache
Muscle pain

[ more ]

0003326
Specific learning disability
0001328
1%-4% of people have these symptoms
Cerebral palsy
0100021
Fused cervical vertebrae
Fused neck
0002949
Hypogonadotropic hypogonadism
0000044
Incomplete penetrance
0003829
Intellectual disability, mild
Mental retardation, borderline-mild
Mild and nonprogressive mental retardation
Mild mental retardation

[ more ]

0001256
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance
0000006
Autosomal recessive inheritance
0000007
Bimanual synkinesia
Hand mirror movements
Mirror hand movements
Mirror movements

[ more ]

0001335

Diagnosis

Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.

Testing Resources

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

    Organizations

    Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

    Organizations Supporting this Disease

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

      • Genetics Home Reference (GHR) contains information on Congenital mirror movement disorder. This website is maintained by the National Library of Medicine.

        In-Depth Information

        • GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
          Mirror Movements 1
          Mirror Movements 2
          Mirror Movements 3
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital mirror movement disorder. Click on the link to view a sample search on this topic.

          References

          1. Congenital mirror movement disorder. Genetics Home Reference (GHR). April, 2015; https://ghr.nlm.nih.gov/condition/congenital-mirror-movement-disorder.
          2. Méneret A, Trouillard O, Depienne C, Roze E. Congenital Mirror Movements. GeneReviews. March, 2015; https://www.ncbi.nlm.nih.gov/books/NBK279760/.
          3. Demirayak P, Onat OE, Gevrekci AÖ, Gülsüner S, Uysal H, Bilgen RS, Doerschner K, et al. Abnormal subcortical activity in congenital mirror movement disorder with RAD51 mutation. Diagn Interv Radiol. November, 2018; 24(6):392-401. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6223827/.
          4. Srour M, Rivière JB, Pham JM, et al. Mutations in DCC cause congenital mirror movements. Science. 2010; 328:592. https://www.ncbi.nlm.nih.gov/pubmed/20431009.
          5. Depienne C, Bouteiller D, Méneret A, et al. RAD51 haploinsufficiency causes congenital mirror movements in humans. Am J Hum Genet. 2012; 90:301–307. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276668/.