{"Name":"Bimanual synkinesia","DiseaseID__c":"GARD:0012551","id":12551,"encodedName":"bimanual-synkinesia","IsDeleted":false,"Disease_Name_Full__c":"Bimanual synkinesia","Xref_IDs__c":"229247004; C0454455; DOID:0111153; HP:0001335; MEDGEN:473166; MONDO:0016558; OMIMPS:157600; ORPHA:238722","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016558","Disease_Description__c":"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.","GARD_Name__c":"Bimanual synkinesia","GARD_Synonym__c":"familial congenital controlateral synkinesia; familial congenital mirror movements; hand mirror movements; hereditary congenital controlateral synkinesia; hereditary congenital mirror movements; isolated congenital controlateral synkinesia; isolated congenital mirror movements; mirror hand movements; mirror movements; mirror movements, congenital","Curated_Disease_Description_Source__c":"GARD:0012551","Curated_Disease_Description__c":"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. Mirror movements that do not disappear and persist into adulthood are considered abnormal. In people with CMM, no other neurologic abnormalities are present, distinguishing CMM from other neurologic disorders that cause abnormal mirror movements. CMM can be caused by genetic changes in the RAD51 or DCC genes. In some cases, the cause is unknown, but it is likely that genetic changes in other, unidentified genes are also responsible for CMM. The genetic changes 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. Not all people who inherit genetic changes that cause CMM will have the disorder (a phenomenon known as reduced penetrance). The diagnosis can be made based on the symptoms (a clinical diagnosis) which may be confirmed with genetic testing if a responsible genetic change is found.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:238722","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016558","ORPHANET_ID__c":"ORPHA:238722","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Movimientos en espejo congénitos familiares","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"movimientos en espejo congénitos familiares","Spanish_GARD_Synonym__c":"movimientos en espejo congénitos aislados; movimientos en espejo congénitos hereditarios; sincinesia contralateral congénita aislada; sincinesia contralateral congénita familiar; sincinesia contralateral congénita hereditaria","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"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. Mirror movements that do not disappear and persist into adulthood are considered abnormal. In people with CMM, no other neurologic abnormalities are present, distinguishing CMM from other neurologic disorders that cause abnormal mirror movements. CMM can be caused by genetic changes in the RAD51 or DCC genes. In some cases, the cause is unknown, but it is likely that genetic changes in other, unidentified genes are also responsible for CMM. The genetic changes 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. Not all people who inherit genetic changes that cause CMM will have the disorder (a phenomenon known as reduced penetrance). The diagnosis can be made based on the symptoms (a clinical diagnosis) which may be confirmed with genetic testing if a responsible genetic change is found.","Curated_Disease_Description_Source__c":"GARD:0012551","GARD_Synonym__c":"familial congenital controlateral synkinesia; familial congenital mirror movements; hand mirror movements; hereditary congenital controlateral synkinesia; hereditary congenital mirror movements; isolated congenital controlateral synkinesia; isolated congenital mirror movements; mirror hand movements; mirror movements; mirror movements, congenital","Name":"Bimanual synkinesia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:238722"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:238722"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0012551","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK279760","Source__c":"Gene Review","Xref__c":"NBK279760"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=473166","Source__c":"C0454455","Xref__c":"MEDGEN:473166"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111153","Source__c":"MONDO:0016558","Xref__c":"DOID:0111153"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS157600","Source__c":"MONDO:0016558","Xref__c":"OMIMPS:157600"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0454455","Source__c":"C0454455","Xref__c":"C0454455"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=229247004","Source__c":"C0454455; MONDO:0016558","Xref__c":"229247004"},{"URL__c":"https://www.orpha.net/en/disease/detail/238722","Source__c":"C0454455; MONDO:0016558","Xref__c":"ORPHA:238722"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0001335","Source__c":"C0454455","Xref__c":"HP:0001335"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016558","Source__c":"GARD:0012551","Xref__c":"MONDO:0016558"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"DNAL4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"NTN1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ntn1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"DCC","GHR_URL__c":"https://medlineplus.gov/genetics/gene/dcc","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"RAD51","GHR_URL__c":"https://medlineplus.gov/genetics/gene/rad51","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive","Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Hypogonadotropic hypogonadism is characterized by reduced function of the gonads (testes in males or ovaries in females) and results from the absence of the gonadal stimulating pituitary hormones: follicle stimulating hormone (FSH) and luteinizing hormone (LH).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000044","HPO_Synonym__c":"Hypogonadotrophic hypogonadism; Low gonadotropins (secondary hypogonadism)","HPO_Name__c":"Hypogonadotropic hypogonadism","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002312","HPO_Synonym__c":"Clumsiness","HPO_Name__c":"Clumsiness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behavior, by epilepsy, and by secondary musculoskeletal problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100021","HPO_Synonym__c":"Cerebral paralysis; CP","HPO_Name__c":"Cerebral palsy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to fatigue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003388","HPO_Name__c":"Easy fatigability","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the ability (skills) to perform a precise movement of small muscles with the intent to perform a specific act. Fine motor skills are required to mediate movements of the wrists, hands, fingers, feet, and toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007010","HPO_Synonym__c":"Fine motor disability; Fine motor impairment; Fine motor skill dysfunction; Impaired fine motor skills","HPO_Name__c":"Poor fine motor coordination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Structural abnormality of the hippocampus related to defective development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025101","HPO_Synonym__c":"Hippocampal dysgenesis","HPO_Name__c":"Dysgenesis of the hippocampus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the corticospinal tract, which is the chief element of the pyramidal system (the principle motor tract) and is the only direct connection between the cerebrum and the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002492","HPO_Synonym__c":"Morphological abnormality of the corticospinal tract","HPO_Name__c":"Abnormal corticospinal tract morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A congenital anomaly characterized by a joining (fusion) of two or more cervical vertebral bodies with one another.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002949","HPO_Synonym__c":"Cervical spine fusion; Cervical vertebral fusion; Fused neck; Fusion of cervical vertebrae","HPO_Name__c":"Fused cervical vertebrae","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pain in muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003326","HPO_Synonym__c":"Muscle ache; Muscle pain","HPO_Name__c":"Myalgia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence of the corpus callosum as a result of the failure of the corpus callosum to develop, which can be the result of a failure in any one of the multiple steps of callosal development including cellular proliferation and migration, axonal growth or glial patterning at the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001274","HPO_Synonym__c":"Absence of corpus callosum; Absent corpus callosum; Agenesis of the corpus callosum; Callosal agenesis; Corpus callosum agenesis; Dysplastic or absent corpus callosum","HPO_Name__c":"Agenesis of corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:238722","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Involuntary movements of one hand that accompany and mirror intentional movements of the opposite hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001335","HPO_Synonym__c":"Hand mirror movements; Mirror hand movements; Mirror movements","HPO_Name__c":"Bimanual synkinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["familial congenital controlateral synkinesia"," familial congenital mirror movements"," hand mirror movements"," hereditary congenital controlateral synkinesia"," hereditary congenital mirror movements"," isolated congenital controlateral synkinesia"," isolated congenital mirror movements"," mirror hand movements"," mirror movements"," mirror movements, congenital"]}