{"orpha":569,"name":"Familial or sporadic hemiplegic migraine","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":[],"definition":"A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM).","note":null,"url":"https://raremap.alftech.space/d/ORPHA-569/","orphanet_url":"https://www.orpha.net/en/disease/detail/569","names":{"fr":{"name":"Migraine hémiplégique familiale ou sporadique","definition":"La migraine hémiplégique (MH) est une variété rare de migraine avec aura motrice. L'histoire familiale permet de distinguer les cas de migraine hémiplégique familiale (MHF) qui ont au moins un apparenté au premier ou au deuxième degré ayant les mêmes crises et les cas de migraine hémiplégique sporadique (MHS) qui n'ont aucun apparenté atteint."},"de":{"name":"Migräne, hemiplegische, familiäre oder sporadische Form","definition":"Die Hemiplegische Migräne (HM) ist eine seltene Migräneform, mit Aura und Muskelschwäche während der Aura. Patienten mit mindestens 1 Verwandten I. oder II. Grades, der Migräne mit Aura und Muskelschwäche manifestiert, werden der Familiären hemiplegischen Migräne (FHM) zugeordnet, Patienten ohne eine solche Familiengeschichte der Sporadischen hemiplegischen Migräne (SHM)."},"es":{"name":"Migraña hemipléjica familiar o esporádica","definition":"Es una variedad poco frecuente de la migraña con aura, caracterizada por la presencia de debilidad motora durante el aura. Los antecedentes familiares permiten distinguir dos formas principales: la migraña hemipléjica familiar (MHF) en pacientes que poseen al menos un familiar de primer o segundo grado que presente aura con debilidad motora; mientras que los pacientes sin antecedentes familiares son casos de migraña hemipléjica esporádica (MHS)."},"it":{"name":"Emicrania emiplegica familiare o sporadica"},"nl":{"name":"Familiale of sporadische hemiplegische migraine","definition":"Een zeldzame variant van migraine met aura, gekenmerkt door de aanwezigheid van motorische zwakte tijdens de aura. Afhankelijk van de familiegeschiedenis worden twee voorname vormen onderscheiden: patiënten met minstens één eerste- of tweedegraadsverwant die een aura inclusief motorische zwakte heeft, hebben familiale hemiplegische migraine (FHM); patiënten zonder dergelijke familiegeschiedenis hebben sporadische hemiplegische migraine (SHM)."},"pt":{"name":"Enxaqueca hemiplégica familiar ou esporádica","definition":"A enxaqueca hemiplégica (HM) é uma variante rara de enxaqueca com aura caracterizada pela presença de fraqueza motora durante a aura. A enxaqueca hemiplégica tem duas formas principais dependendo da história familiar: doentes com pelo menos um familiar em primeiro ou segundo grau que tenham aura incluindo fraqueza muscular, têm enxaqueca hemiplégica familiar (FHM); doentes sem tal história familiar têm enxaqueca hemiplégica esporádica (SHM)."},"pl":{"name":"Rodzinna lub sporadyczna migrena połowiczo-porażenna"},"cs":{"name":"Familiární nebo sporadická hemiplegická migréna"},"uk":{"name":"Сімейна або спорадична геміплегічна мігрень","definition":"A rare variety of migraine with aura characterized by the presence of a motor weakness during the aura. There are two main forms depending on the familial history: patients with at least one first- or second-degree relative who has aura including motor weakness have familial hemiplegic migraine (FHM); patients without such familial history have sporadic hemiplegic migraine (SHM)."},"zh":{"name":"家族性或散发性偏瘫型偏头痛"},"tr":{"name":"Ailesel veya sporadik hemiplejik migren"}},"xrefs":[{"source":"OMIM","code":"141500","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"602481","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"607516","qualifier":"NTBT","icd_relation":null,"validated":true},{"source":"OMIM","code":"609634","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G43.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8A80.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"1957063016"},{"source":"MONDO","code":"0018925","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0270862","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"10768","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":183503,"name":"Genetic central nervous system and retinal vascular disease","classifications":[156]},{"orpha":98745,"name":"Neurological channelopathy of the central nervous system due to a genetic calcium channel defect","classifications":[156]},{"orpha":98744,"name":"Neurological channelopathy of the central nervous system due to a genetic sodium channel defect","classifications":[156]},{"orpha":71281,"name":"Rare central nervous system and retinal vascular disease","classifications":[181]},{"orpha":183509,"name":"Rare genetic headache","classifications":[156]},{"orpha":98022,"name":"Rare headache","classifications":[181]}],"children":[],"genes":[{"symbol":"ATP1A2","name":"ATPase Na+/K+ transporting subunit alpha 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301562[PMID]","hgnc":"800","ensembl":"ENSG00000018625","omim":"182340","loci":["1q23.2"]},{"symbol":"CACNA1A","name":"calcium voltage-gated channel subunit alpha1 A","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301562[PMID]","hgnc":"1388","ensembl":"ENSG00000141837","omim":"601011","loci":["19p13.13"]},{"symbol":"PRRT2","name":"proline rich transmembrane protein 2","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"23077016[PMID]_23077024[PMID]_22845787[PMID]","hgnc":"30500","ensembl":"ENSG00000167371","omim":"614386","loci":["16p11.2"]},{"symbol":"SCN1A","name":"sodium voltage-gated channel alpha subunit 1","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"20301562[PMID]","hgnc":"10585","ensembl":"ENSG00000144285","omim":"182389","loci":["2q24.3"]}],"genes_via_subtypes":[],"inheritance":["Autosomal dominant"],"onset":["Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.0,"area":"Denmark","status":"Validated","source":"12023326[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-05-26","source":"29334453[PMID]_29343472[PMID]_21458376[PMID]","terms":[{"hpo":"HP:0002167","label":"Abnormality of speech or vocalization","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002353","label":"EEG abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011153","label":"Focal motor seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0011157","label":"Focal sensory seizure","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002077","label":"Migraine with aura","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0200149","label":"CSF lymphocytic pleiocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012229","label":"CSF pleocytosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002181","label":"Cerebral edema","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011172","label":"Complex febrile seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001289","label":"Confusion","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000651","label":"Diplopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010835","label":"Dissociated sensory loss","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011468","label":"Facial tics","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032900","label":"Focal manual automatism seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032901","label":"Focal pedal automatism seizure","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001269","label":"Hemiparesis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002922","label":"Increased CSF protein concentration","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004305","label":"Involuntary movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012508","label":"Metamorphopsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003401","label":"Paresthesia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030786","label":"Photopsia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002172","label":"Postural instability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007240","label":"Progressive gait ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000575","label":"Scotoma","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001308","label":"Tongue fasciculations","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002321","label":"Vertigo","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0032506","label":"Alien limb phenomenon","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002381","label":"Aphasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001259","label":"Coma","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0032044","label":"Decreased vigilance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008959","label":"Distal upper limb muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011199","label":"EEG with generalized sharp slow waves","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007209","label":"Facial paralysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007979","label":"Gaze-evoked horizontal nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002301","label":"Hemiplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010829","label":"Impaired temperature sensition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002463","label":"Language impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0031179","label":"Nuchal rigidity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012044","label":"Seesaw nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010833","label":"Spontaneous pain sensation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000360","label":"Tinnitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010544","label":"Vertical nystagmus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100576","label":"Amaurosis fugax","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0011196","label":"EEG with focal sharp waves","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003392","label":"First dorsal interossei muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002133","label":"Status epilepticus","frequency":"Very rare (<4-1%)","criteria":null}]}}