{"orpha":95,"name":"Friedreich ataxia","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["FA","FRDA"],"definition":"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-95/","orphanet_url":"https://www.orpha.net/en/disease/detail/95","names":{"fr":{"name":"Ataxie de Friedreich","synonyms":["AF","FRDA"],"definition":"L'ataxie de Friedreich (AF) est une maladie neurodégénérative héréditaire caractérisée habituellement par une ataxie progressive des membres et une démarche ataxique, une dysarthrie, une dysphagie, un trouble oculomoteur, une perte des réflexes tendineux profonds, des signes du faisceau pyramidal, une scoliose, et dans certains cas, une cardiomyopathie, un diabète sucré, une cécité et un trouble de l'audition."},"de":{"name":"Friedreich-Ataxie","synonyms":["FA","FRDA","Friedreichsche Ataxie"],"definition":"Friedreich-Ataxie (FRDA) ist eine vererbte neurodegenerative Erkrankung, die klassischerweise durch fortschreitende Gang- und Gliedmaßenataxie, Dysarthrie, Dysphagie, okulomotorische Dysfunktion, Verlust der tiefen Sehnenreflexe, Pyramidenbahnzeichen, Skoliose und in einigen Fällen auch durch Kardiomyopathie, Diabetes mellitus, Seh- und Hörstörungen gekennzeichnet ist."},"es":{"name":"Ataxia de Friedreich","synonyms":["FA","FRDA"],"definition":"La ataxia de Friedrich (FRDA) es un trastorno neurodegenerativo hereditario que se caracteriza clásicamente por una ataxia progresiva de la marcha, disartria, disfagia, disfunción oculomotora, pérdida de los reflejos tendinosos profundos, signos de afectación del tracto piramidal, escoliosis, y en algunos casos, miocardiopatía, diabetes mellitus, pérdida visual y audición defectuosa."},"it":{"name":"Atassia di Friedreich","synonyms":["FA","FRDA"],"definition":"L'atassia di Friedreich (FRDA) è una malattia neurodegenerativa ereditaria, per lo più caratterizzata da atassia progressiva dell'andatura e degli arti, disartria, disfagia, disfunzione oculomotoria, perdita dei riflessi tendinei profondi, segni piramidali, scoliosi e, in alcuni casi, cardiomiopatia, diabete mellito, perdita della vista e deficit dell'udito."},"nl":{"name":"Ataxie van Friedreich","synonyms":["FA","FRDA"],"definition":"Friedreichataxie (FRDA) is een erfelijke neurodegeneratieve aandoening die doorgaans gekarakteriseerd wordt door progressieve ataxie van de gang en de ledematen, dysartrie, dysfagie, oculomotorische stoornissen, verlies van spierrekkingsreflexen, indicaties van het piramidaal systeem, scoliose, en in sommige gevallen cardiomyopathie, diabetes mellitus, visuele handicap en gebrekkig gehoor."},"pt":{"name":"Ataxia de Friedreich","definition":"A ataxia Friedreich (AFFR) é uma doença neurodegenerativa hereditária classicamente caracterizada por ataxia progressiva da marcha e dos membros, disartria, disfagia, disfunção oculomotora, perda dos reflexos tendinosos profundos, sinais do trato piramidal, escoliose e, em alguns casos, cardiomiopatia, diabetes mellitus, perda visual e deficiência auditiva."},"pl":{"name":"Ataksja Friedreicha","synonyms":["FA","FRDA"],"definition":"Ataksja Friedreicha (ang. Friedreich ataxia, FRDA) jest dziedziczną chorobą neurodegeneracyjną, którąinf brsup cechują postępująca ataksja chodu i kończyn, dyzartria, dysfagia, dysfunkcja okoruchowa, zanik głębokichinf brsup odruchów ścięgnistych, objawy piramidowe, skolioza oraz - u niektórych chorych - kardiomiopatia,inf brsup cukrzyca, utrata wzroku i upośledzony słuch."},"cs":{"name":"FRDA","synonyms":["FA","Friedreichova ataxie"]},"uk":{"name":"Атаксія Фрідрейха","synonyms":["FA","FRDA"],"definition":"Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing."},"zh":{"name":"弗里德赖希共济失调","synonyms":["FRDA"]},"tr":{"name":"Friedreich ataksisi","synonyms":["FA","FRDA"]}},"xrefs":[{"source":"OMIM","code":"229300","qualifier":"E","icd_relation":null,"validated":true},{"source":"OMIM","code":"601992","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G11.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8A03.10","qualifier":"E","icd_relation":"specific","validated":true,"icd11_uri":"980686666"},{"source":"MONDO","code":"0100339","qualifier":"E","icd_relation":null,"validated":true},{"source":"MONDO","code":"100339","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D005621","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0016719","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"6468","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10017374","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98098,"name":"Autosomal recessive degenerative and progressive cerebellar ataxia","classifications":[156,181]},{"orpha":207028,"name":"Cerebellar ataxia with peripheral neuropathy","classifications":[156,181]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":519341,"name":"Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[189]},{"orpha":522506,"name":"Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature","classifications":[156]},{"orpha":217595,"name":"Syndrome associated with hypertrophic cardiomyopathy","classifications":[146,156,233]}],"children":[],"genes":[{"symbol":"FXN","name":"frataxin","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"21776984[PMID]","hgnc":"3951","ensembl":"ENSG00000165060","omim":"606829","loci":["9q21.11"]}],"genes_via_subtypes":[],"inheritance":["Autosomal recessive"],"onset":["Adolescent","Childhood"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Greece","status":"Validated","source":"24209901[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.0,"area":"Europe","status":"Validated","source":"20301458[PMID]_23859338[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.3,"area":"France","status":"Validated","source":"9207112 [PMID]_23859338[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.8,"area":"Italy","status":"Validated","source":"2225525[PMID]_7793232[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.1,"area":"Italy","status":"Validated","source":"2225525[PMID]_7793232[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":6.2,"area":"Spain","status":"Validated","source":"2043954[PMID]_7898602[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":4.3,"area":"Spain","status":"Not yet validated","source":"2043954[PMID]_7898602[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Finland","status":"Validated","source":"11810294[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.13,"area":"Finland","status":"Validated","source":"11810294[PMID]_23859338[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Denmark","status":"Not yet validated","source":"2096315[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.9,"area":"Portugal","status":"Validated","source":"23609960[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.8,"area":"United Kingdom","status":"Validated","source":"19347027[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.0,"area":"Norway","status":"Validated","source":"1126051[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":2.1,"area":"Germany","status":"Validated","source":"9187683[PMID]_23859338[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.24,"area":"Sweden","status":"Validated","source":"11810294[PMID]_23859338[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.27,"area":"Czech Republic","status":"Validated","source":"15726025[PMID]_23859338[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":3.03,"area":"Russian Federation","status":"Validated","source":"15559155[PMID]_23859338[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2024-03-25","source":"29053830[PMID]_35766110[PMID]_20301458[PMID]_10633128[PMID]_18852343[PMID]_8149209[PMID]","terms":[{"hpo":"HP:0002066","label":"Gait ataxia","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0003487","label":"Babinski sign","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002141","label":"Gait imbalance","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0009130","label":"Hand muscle atrophy","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010831","label":"Impaired proprioception","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002070","label":"Limb ataxia","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003115","label":"Abnormal EKG","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001760","label":"Abnormal foot morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000570","label":"Abnormal saccadic eye movements","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012079","label":"Abnormality of central motor conduction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002270","label":"Abnormality of the autonomic nervous system","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001063","label":"Acrocyanosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002522","label":"Areflexia of lower limbs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001638","label":"Cardiomyopathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0010873","label":"Cervical spinal cord atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002312","label":"Clumsiness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001310","label":"Dysmetria","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002495","label":"Impaired vibratory sensation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030183","label":"Impaired visually enhanced vestibulo-ocular reflex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002037","label":"Inflammation of the large intestine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002080","label":"Intention tremor","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003394","label":"Muscle spasm","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000639","label":"Nystagmus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001761","label":"Pes cavus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012452","label":"Restless legs","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003390","label":"Sensory axonal neuropathy","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002839","label":"Urinary bladder sphincter dysfunction","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000012","label":"Urinary urgency","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001272","label":"Cerebellar atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003431","label":"Decreased motor nerve conduction velocity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002075","label":"Dysdiadochokinesis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001618","label":"Dysphonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001332","label":"Dystonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002546","label":"Incomprehensible speech","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010535","label":"Sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025402","label":"Square-wave jerks","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002072","label":"Chorea","frequency":"Very rare (<4-1%)","criteria":null}]}}